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<div id="Pill-react-component-ea46f779-83d1-4e81-b885-d33101bb740f"></div> </a><a data-click-track="profile-user-info-expand-research-interests" data-has-card-for-ri-list="37824418" href="https://www.academia.edu/Documents/in/Gene_Silencing"><div class="js-react-on-rails-component" style="display:none" data-component-name="Pill" data-props="{"color":"gray","children":["Gene Silencing"]}" data-trace="false" data-dom-id="Pill-react-component-8caa23a8-47b4-4a9e-b68b-d9ab9abad535"></div> <div id="Pill-react-component-8caa23a8-47b4-4a9e-b68b-d9ab9abad535"></div> </a></div></div></div></div><div class="right-panel-container"><div class="user-content-wrapper"><div class="uploads-container" id="social-redesign-work-container"><div class="upload-header"><h2 class="ds2-5-heading-sans-serif-xs">Uploads</h2></div><div class="documents-container backbone-social-profile-documents" style="width: 100%;"><div class="u-taCenter"></div><div class="profile--tab_content_container js-tab-pane tab-pane active" id="all"><div class="profile--tab_heading_container js-section-heading" data-section="Papers" id="Papers"><h3 class="profile--tab_heading_container">Papers by Raffaella Melfi</h3></div><div class="js-work-strip profile--work_container" data-work-id="116513487"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" rel="nofollow" href="https://www.academia.edu/116513487/Homeobox_genes_and_sea_urchin_development"><img alt="Research paper thumbnail of Homeobox genes and sea urchin development" class="work-thumbnail" src="https://a.academia-assets.com/images/blank-paper.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" rel="nofollow" href="https://www.academia.edu/116513487/Homeobox_genes_and_sea_urchin_development">Homeobox genes and sea urchin development</a></div><div class="wp-workCard_item"><span>PubMed</span><span>, 2000</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">We describe the expression of three Paracentrotus lividus homeobox-containing genes of the disper...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">We describe the expression of three Paracentrotus lividus homeobox-containing genes of the dispersed class during sea urchin embryogenesis and discuss their possible roles in the mechanisms of cell specification and embryo morphogenesis. PlHbox12 represents the first regulator identified in sea urchin that belongs to the zygotic class of transcription factors. Its early and transient expression and the localization of transcripts suggests that PlHbox12 is involved in cell fate specification of the oral or aboral ectodermal territories at the early cleavage stages. PlHbox9 is expressed just after the completion of gastrulation in a narrow stripe of cells at the ectoderm-endoderm boundary. It probably organizes a novel spatial boundary which definitely separates the archenteron and the aboral ectoderm. Finally, the spatial and temporal expression of the PlOtp gene strongly indicate that this regulator is conditionally activated in few cells of the oral ectoderm and is involved in patterning of this territory at late stages. Furthermore, our data indicate that PlOtp acts upstream of signaling systems that lead to the activation of the primary mesenchyme cell gene expression program and skeletal morphogenesis.</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="116513487"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="116513487"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 116513487; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=116513487]").text(description); $(".js-view-count[data-work-id=116513487]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 116513487; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='116513487']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 116513487, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (false){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "-1" } } $('.js-work-strip[data-work-id=116513487]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":116513487,"title":"Homeobox genes and sea urchin development","translated_title":"","metadata":{"abstract":"We describe the expression of three Paracentrotus lividus homeobox-containing genes of the dispersed class during sea urchin embryogenesis and discuss their possible roles in the mechanisms of cell specification and embryo morphogenesis. PlHbox12 represents the first regulator identified in sea urchin that belongs to the zygotic class of transcription factors. Its early and transient expression and the localization of transcripts suggests that PlHbox12 is involved in cell fate specification of the oral or aboral ectodermal territories at the early cleavage stages. PlHbox9 is expressed just after the completion of gastrulation in a narrow stripe of cells at the ectoderm-endoderm boundary. It probably organizes a novel spatial boundary which definitely separates the archenteron and the aboral ectoderm. Finally, the spatial and temporal expression of the PlOtp gene strongly indicate that this regulator is conditionally activated in few cells of the oral ectoderm and is involved in patterning of this territory at late stages. Furthermore, our data indicate that PlOtp acts upstream of signaling systems that lead to the activation of the primary mesenchyme cell gene expression program and skeletal morphogenesis.","publication_date":{"day":null,"month":null,"year":2000,"errors":{}},"publication_name":"PubMed"},"translated_abstract":"We describe the expression of three Paracentrotus lividus homeobox-containing genes of the dispersed class during sea urchin embryogenesis and discuss their possible roles in the mechanisms of cell specification and embryo morphogenesis. PlHbox12 represents the first regulator identified in sea urchin that belongs to the zygotic class of transcription factors. Its early and transient expression and the localization of transcripts suggests that PlHbox12 is involved in cell fate specification of the oral or aboral ectodermal territories at the early cleavage stages. PlHbox9 is expressed just after the completion of gastrulation in a narrow stripe of cells at the ectoderm-endoderm boundary. It probably organizes a novel spatial boundary which definitely separates the archenteron and the aboral ectoderm. Finally, the spatial and temporal expression of the PlOtp gene strongly indicate that this regulator is conditionally activated in few cells of the oral ectoderm and is involved in patterning of this territory at late stages. Furthermore, our data indicate that PlOtp acts upstream of signaling systems that lead to the activation of the primary mesenchyme cell gene expression program and skeletal morphogenesis.","internal_url":"https://www.academia.edu/116513487/Homeobox_genes_and_sea_urchin_development","translated_internal_url":"","created_at":"2024-03-21T07:13:36.921-07:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":37824418,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[],"downloadable_attachments":[],"slug":"Homeobox_genes_and_sea_urchin_development","translated_slug":"","page_count":null,"language":"en","content_type":"Work","owner":{"id":37824418,"first_name":"Raffaella","middle_initials":null,"last_name":"Melfi","page_name":"RaffaellaMelfi","domain_name":"independent","created_at":"2015-11-07T07:23:52.005-08:00","display_name":"Raffaella Melfi","url":"https://independent.academia.edu/RaffaellaMelfi"},"attachments":[],"research_interests":[{"id":1083,"name":"Developmental Biology","url":"https://www.academia.edu/Documents/in/Developmental_Biology"},{"id":7710,"name":"Biology","url":"https://www.academia.edu/Documents/in/Biology"},{"id":13827,"name":"Cell Biology","url":"https://www.academia.edu/Documents/in/Cell_Biology"},{"id":23323,"name":"Transcription Factors","url":"https://www.academia.edu/Documents/in/Transcription_Factors"},{"id":24124,"name":"Morphogenesis","url":"https://www.academia.edu/Documents/in/Morphogenesis"},{"id":26327,"name":"Medicine","url":"https://www.academia.edu/Documents/in/Medicine"},{"id":37836,"name":"In Situ Hybridization","url":"https://www.academia.edu/Documents/in/In_Situ_Hybridization"},{"id":47884,"name":"Biological Sciences","url":"https://www.academia.edu/Documents/in/Biological_Sciences"},{"id":98939,"name":"Pubmed","url":"https://www.academia.edu/Documents/in/Pubmed"},{"id":118047,"name":"Gastrulation","url":"https://www.academia.edu/Documents/in/Gastrulation"},{"id":229847,"name":"Sea Urchins","url":"https://www.academia.edu/Documents/in/Sea_Urchins"},{"id":295728,"name":"Molecular cloning","url":"https://www.academia.edu/Documents/in/Molecular_cloning"},{"id":413195,"name":"Time Factors","url":"https://www.academia.edu/Documents/in/Time_Factors"},{"id":560354,"name":"Sea Urchin","url":"https://www.academia.edu/Documents/in/Sea_Urchin"},{"id":1256683,"name":"Bone and Bones","url":"https://www.academia.edu/Documents/in/Bone_and_Bones"},{"id":3024887,"name":"Strongylocentrotus purpuratus","url":"https://www.academia.edu/Documents/in/Strongylocentrotus_purpuratus"},{"id":3653812,"name":"endoderm","url":"https://www.academia.edu/Documents/in/endoderm"},{"id":3763225,"name":"Medical and Health Sciences","url":"https://www.academia.edu/Documents/in/Medical_and_Health_Sciences"},{"id":4116893,"name":"ectoderm","url":"https://www.academia.edu/Documents/in/ectoderm"}],"urls":[{"id":40494670,"url":"https://pubmed.ncbi.nlm.nih.gov/11061427"}]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="116513486"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" rel="nofollow" href="https://www.academia.edu/116513486/The_sea_urchin_histone_H2A_enhancer_binding_protein_MBF_1_is_needed_for_maximal_expression_also_for_the_H3_gene_while_is_buffered_by_the_sns5_insulator_on_its_interaction_with_the_downstream_H1_promoter"><img alt="Research paper thumbnail of The sea urchin histone H2A enhancer-binding protein MBF-1 is needed for maximal expression also for the H3 gene, while is buffered by the sns5 insulator on its interaction with the downstream H1 promoter" class="work-thumbnail" src="https://a.academia-assets.com/images/blank-paper.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" rel="nofollow" href="https://www.academia.edu/116513486/The_sea_urchin_histone_H2A_enhancer_binding_protein_MBF_1_is_needed_for_maximal_expression_also_for_the_H3_gene_while_is_buffered_by_the_sns5_insulator_on_its_interaction_with_the_downstream_H1_promoter">The sea urchin histone H2A enhancer-binding protein MBF-1 is needed for maximal expression also for the H3 gene, while is buffered by the sns5 insulator on its interaction with the downstream H1 promoter</a></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">Enhancers are DNA elements which increase the transcription of associated gene in a position and ...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">Enhancers are DNA elements which increase the transcription of associated gene in a position and distance independent manner relative to the transcription initiation site. Molecular mechanisms must operate to direct enhancers to specific promoters in complex genetic loci. The sea urchin a-histone genes are organized in several hundred tandem repeated units, each containing one copy of the five histone genes in the order 5\u2019-H4-H2B-H3-H2A-H1-3\u2019. Transcription is limited to the early cleavage and reaches its maximum at morula stage. After hatching these genes are repressed and maintained in the silenced state for whole life cycle of the animal. In Paracentrotus lividus, the MBF-1 activator binds to a 30 bp sequence of the H2A modulator, the only cis-acting element of the histone unit for which an enhancer activity has unambiguously demonstrated. Here we assessed the specificity of the MBF-1 factor and the molecular mechanisms that eventually limit its interaction with the adjacent promoters. We find by Chromatin ImmunePrecipitation and in vivo functional studies that the MBF-1 activator binds both the H3 and H2A regulatory sequences, suggesting that this activator is needed for the maximal expression of both genes. In addition, we find that the enhancer blocking activity of the sns5 insulator buffers the downstream H1 promoter from the H2A enhancer bound MBF-1 factor. These results suggest that the block of the H2A enhancer by the sns5 insulator might be the mechanism that regulate the ratio of 2 to 1 of core to linker histones during early development of the sea urchin embryo</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="116513486"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="116513486"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 116513486; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=116513486]").text(description); $(".js-view-count[data-work-id=116513486]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 116513486; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='116513486']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 116513486, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (false){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "-1" } } $('.js-work-strip[data-work-id=116513486]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":116513486,"title":"The sea urchin histone H2A enhancer-binding protein MBF-1 is needed for maximal expression also for the H3 gene, while is buffered by the sns5 insulator on its interaction with the downstream H1 promoter","translated_title":"","metadata":{"abstract":"Enhancers are DNA elements which increase the transcription of associated gene in a position and distance independent manner relative to the transcription initiation site. Molecular mechanisms must operate to direct enhancers to specific promoters in complex genetic loci. The sea urchin a-histone genes are organized in several hundred tandem repeated units, each containing one copy of the five histone genes in the order 5\\u2019-H4-H2B-H3-H2A-H1-3\\u2019. Transcription is limited to the early cleavage and reaches its maximum at morula stage. After hatching these genes are repressed and maintained in the silenced state for whole life cycle of the animal. In Paracentrotus lividus, the MBF-1 activator binds to a 30 bp sequence of the H2A modulator, the only cis-acting element of the histone unit for which an enhancer activity has unambiguously demonstrated. Here we assessed the specificity of the MBF-1 factor and the molecular mechanisms that eventually limit its interaction with the adjacent promoters. We find by Chromatin ImmunePrecipitation and in vivo functional studies that the MBF-1 activator binds both the H3 and H2A regulatory sequences, suggesting that this activator is needed for the maximal expression of both genes. In addition, we find that the enhancer blocking activity of the sns5 insulator buffers the downstream H1 promoter from the H2A enhancer bound MBF-1 factor. These results suggest that the block of the H2A enhancer by the sns5 insulator might be the mechanism that regulate the ratio of 2 to 1 of core to linker histones during early development of the sea urchin embryo","publication_date":{"day":null,"month":null,"year":2009,"errors":{}}},"translated_abstract":"Enhancers are DNA elements which increase the transcription of associated gene in a position and distance independent manner relative to the transcription initiation site. Molecular mechanisms must operate to direct enhancers to specific promoters in complex genetic loci. The sea urchin a-histone genes are organized in several hundred tandem repeated units, each containing one copy of the five histone genes in the order 5\\u2019-H4-H2B-H3-H2A-H1-3\\u2019. Transcription is limited to the early cleavage and reaches its maximum at morula stage. After hatching these genes are repressed and maintained in the silenced state for whole life cycle of the animal. In Paracentrotus lividus, the MBF-1 activator binds to a 30 bp sequence of the H2A modulator, the only cis-acting element of the histone unit for which an enhancer activity has unambiguously demonstrated. Here we assessed the specificity of the MBF-1 factor and the molecular mechanisms that eventually limit its interaction with the adjacent promoters. We find by Chromatin ImmunePrecipitation and in vivo functional studies that the MBF-1 activator binds both the H3 and H2A regulatory sequences, suggesting that this activator is needed for the maximal expression of both genes. In addition, we find that the enhancer blocking activity of the sns5 insulator buffers the downstream H1 promoter from the H2A enhancer bound MBF-1 factor. These results suggest that the block of the H2A enhancer by the sns5 insulator might be the mechanism that regulate the ratio of 2 to 1 of core to linker histones during early development of the sea urchin embryo","internal_url":"https://www.academia.edu/116513486/The_sea_urchin_histone_H2A_enhancer_binding_protein_MBF_1_is_needed_for_maximal_expression_also_for_the_H3_gene_while_is_buffered_by_the_sns5_insulator_on_its_interaction_with_the_downstream_H1_promoter","translated_internal_url":"","created_at":"2024-03-21T07:13:36.664-07:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":37824418,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[],"downloadable_attachments":[],"slug":"The_sea_urchin_histone_H2A_enhancer_binding_protein_MBF_1_is_needed_for_maximal_expression_also_for_the_H3_gene_while_is_buffered_by_the_sns5_insulator_on_its_interaction_with_the_downstream_H1_promoter","translated_slug":"","page_count":null,"language":"en","content_type":"Work","owner":{"id":37824418,"first_name":"Raffaella","middle_initials":null,"last_name":"Melfi","page_name":"RaffaellaMelfi","domain_name":"independent","created_at":"2015-11-07T07:23:52.005-08:00","display_name":"Raffaella Melfi","url":"https://independent.academia.edu/RaffaellaMelfi"},"attachments":[],"research_interests":[{"id":523,"name":"Chemistry","url":"https://www.academia.edu/Documents/in/Chemistry"},{"id":7710,"name":"Biology","url":"https://www.academia.edu/Documents/in/Biology"},{"id":13827,"name":"Cell Biology","url":"https://www.academia.edu/Documents/in/Cell_Biology"},{"id":541820,"name":"Enhancer","url":"https://www.academia.edu/Documents/in/Enhancer"},{"id":560354,"name":"Sea Urchin","url":"https://www.academia.edu/Documents/in/Sea_Urchin"},{"id":910660,"name":"Histone","url":"https://www.academia.edu/Documents/in/Histone"}],"urls":[{"id":40494669,"url":"https://pure.unipa.it/it/publications/the-sea-urchin-histone-h2a-enhancer-binding-protein-mbf-1-is-need-2"}]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="116513485"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" rel="nofollow" href="https://www.academia.edu/116513485/Readthrough_approach_by_NV_translational_readthrough_inducing_drugs_TRIDs_a_study_of_the_possible_off_target_effects_on_natural_termination_codons_NTCs_on_TP53_and_housekeeping_genes_expression"><img alt="Research paper thumbnail of Readthrough approach by NV translational readthrough inducing drugs (TRIDs): a study of the possible off-target effects on natural termination codons (NTCs) on TP53 and housekeeping genes expression" class="work-thumbnail" src="https://a.academia-assets.com/images/blank-paper.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" rel="nofollow" href="https://www.academia.edu/116513485/Readthrough_approach_by_NV_translational_readthrough_inducing_drugs_TRIDs_a_study_of_the_possible_off_target_effects_on_natural_termination_codons_NTCs_on_TP53_and_housekeeping_genes_expression">Readthrough approach by NV translational readthrough inducing drugs (TRIDs): a study of the possible off-target effects on natural termination codons (NTCs) on TP53 and housekeeping genes expression</a></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">Nonsense mutations cause several genetic diseases such as Cystic fibrosis, Duchenne muscular dyst...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">Nonsense mutations cause several genetic diseases such as Cystic fibrosis, Duchenne muscular dystrophy, β-thalassemia, and Shwachman-Diamond syndrome. These mutations induce the formation of a premature termination codon (PTC) inside the mRNA sequence that leads to the aberrant translation, resulting in the synthesis of truncated polypeptides. Nonsense suppression therapy mediated by translational readthrough-inducing drugs (TRIDs) is a promising approach to correct these genetic defects. TRIDs generate a ribosome miscoding of the PTC named “translational readthrough” and restore the synthesis of full-length and potentially functional protein. The new oxadiazole-core TRIDs NV848, NV914, and NV930 showed translational readthrough activity in nonsense-related in vitro systems. In this work, the possible off-target effect of NV molecules on natural termination codons (NTCs) was investigated. Two different in vitro approaches were used to assess if the NV molecules treatment induce NTCs...</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="116513485"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="116513485"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 116513485; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=116513485]").text(description); $(".js-view-count[data-work-id=116513485]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 116513485; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='116513485']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 116513485, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (false){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "-1" } } $('.js-work-strip[data-work-id=116513485]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":116513485,"title":"Readthrough approach by NV translational readthrough inducing drugs (TRIDs): a study of the possible off-target effects on natural termination codons (NTCs) on TP53 and housekeeping genes expression","translated_title":"","metadata":{"abstract":"Nonsense mutations cause several genetic diseases such as Cystic fibrosis, Duchenne muscular dystrophy, β-thalassemia, and Shwachman-Diamond syndrome. These mutations induce the formation of a premature termination codon (PTC) inside the mRNA sequence that leads to the aberrant translation, resulting in the synthesis of truncated polypeptides. Nonsense suppression therapy mediated by translational readthrough-inducing drugs (TRIDs) is a promising approach to correct these genetic defects. TRIDs generate a ribosome miscoding of the PTC named “translational readthrough” and restore the synthesis of full-length and potentially functional protein. The new oxadiazole-core TRIDs NV848, NV914, and NV930 showed translational readthrough activity in nonsense-related in vitro systems. In this work, the possible off-target effect of NV molecules on natural termination codons (NTCs) was investigated. Two different in vitro approaches were used to assess if the NV molecules treatment induce NTCs...","publisher":"MDPI AG"},"translated_abstract":"Nonsense mutations cause several genetic diseases such as Cystic fibrosis, Duchenne muscular dystrophy, β-thalassemia, and Shwachman-Diamond syndrome. These mutations induce the formation of a premature termination codon (PTC) inside the mRNA sequence that leads to the aberrant translation, resulting in the synthesis of truncated polypeptides. Nonsense suppression therapy mediated by translational readthrough-inducing drugs (TRIDs) is a promising approach to correct these genetic defects. TRIDs generate a ribosome miscoding of the PTC named “translational readthrough” and restore the synthesis of full-length and potentially functional protein. The new oxadiazole-core TRIDs NV848, NV914, and NV930 showed translational readthrough activity in nonsense-related in vitro systems. In this work, the possible off-target effect of NV molecules on natural termination codons (NTCs) was investigated. Two different in vitro approaches were used to assess if the NV molecules treatment induce NTCs...","internal_url":"https://www.academia.edu/116513485/Readthrough_approach_by_NV_translational_readthrough_inducing_drugs_TRIDs_a_study_of_the_possible_off_target_effects_on_natural_termination_codons_NTCs_on_TP53_and_housekeeping_genes_expression","translated_internal_url":"","created_at":"2024-03-21T07:13:36.526-07:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":37824418,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[],"downloadable_attachments":[],"slug":"Readthrough_approach_by_NV_translational_readthrough_inducing_drugs_TRIDs_a_study_of_the_possible_off_target_effects_on_natural_termination_codons_NTCs_on_TP53_and_housekeeping_genes_expression","translated_slug":"","page_count":null,"language":"en","content_type":"Work","owner":{"id":37824418,"first_name":"Raffaella","middle_initials":null,"last_name":"Melfi","page_name":"RaffaellaMelfi","domain_name":"independent","created_at":"2015-11-07T07:23:52.005-08:00","display_name":"Raffaella Melfi","url":"https://independent.academia.edu/RaffaellaMelfi"},"attachments":[],"research_interests":[{"id":156,"name":"Genetics","url":"https://www.academia.edu/Documents/in/Genetics"},{"id":7710,"name":"Biology","url":"https://www.academia.edu/Documents/in/Biology"},{"id":181936,"name":"Gene","url":"https://www.academia.edu/Documents/in/Gene"},{"id":1748403,"name":"Nonsense Mutation","url":"https://www.academia.edu/Documents/in/Nonsense_Mutation"},{"id":3458393,"name":"stop codon","url":"https://www.academia.edu/Documents/in/stop_codon"}],"urls":[]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="116513484"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" rel="nofollow" href="https://www.academia.edu/116513484/WS17_01_Novel_approaches_based_on_sequence_specific_RNA_editing_by_ADARs_to_correct_CFTR_nonsense_mutations_causing_cystic_fibrosis"><img alt="Research paper thumbnail of WS17.01 Novel approaches based on sequence-specific RNA editing by ADARs to correct CFTR nonsense mutations causing cystic fibrosis" class="work-thumbnail" src="https://a.academia-assets.com/images/blank-paper.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" rel="nofollow" href="https://www.academia.edu/116513484/WS17_01_Novel_approaches_based_on_sequence_specific_RNA_editing_by_ADARs_to_correct_CFTR_nonsense_mutations_causing_cystic_fibrosis">WS17.01 Novel approaches based on sequence-specific RNA editing by ADARs to correct CFTR nonsense mutations causing cystic fibrosis</a></div><div class="wp-workCard_item"><span>Journal of Cystic Fibrosis</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="116513484"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="116513484"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 116513484; 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$(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="116513411"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" rel="nofollow" href="https://www.academia.edu/116513411/Valutazione_dellazione_readthorough_della_molecola_PTC124_su_sistemi_modello_cellulari_contenenti_mutazioni_non_senso_e_in_cellule_epiteliali_bronchiali_IB3_1_delF508_W1282X_derivate_da_pazienti_affetti_da_fibrosi_cistica"><img alt="Research paper thumbnail of Valutazione dell'azione readthorough della molecola PTC124 su sistemi modello cellulari contenenti mutazioni non senso e in cellule epiteliali bronchiali IB3.1 (delF508/W1282X) derivate da pazienti affetti da fibrosi cistica" class="work-thumbnail" src="https://a.academia-assets.com/images/blank-paper.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" rel="nofollow" href="https://www.academia.edu/116513411/Valutazione_dellazione_readthorough_della_molecola_PTC124_su_sistemi_modello_cellulari_contenenti_mutazioni_non_senso_e_in_cellule_epiteliali_bronchiali_IB3_1_delF508_W1282X_derivate_da_pazienti_affetti_da_fibrosi_cistica">Valutazione dell'azione readthorough della molecola PTC124 su sistemi modello cellulari contenenti mutazioni non senso e in cellule epiteliali bronchiali IB3.1 (delF508/W1282X) derivate da pazienti affetti da fibrosi cistica</a></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">Circa il 10% dei pazienti affetti da fibrosi cistica (FC) presenta nel gene CFTR mutazioni non se...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">Circa il 10% dei pazienti affetti da fibrosi cistica (FC) presenta nel gene CFTR mutazioni non senso (o &#39;stop&#39;: UGA, UAG or UAA, mutazioni di classe I) che bloccano prematuramente la sintesi della proteina. Attualmente non esiste una cura per questo tipo di mutazioni ma si sta cercando di individuare delle molecole che siano in grado di indurre la traduzione di codoni di stop prematuri (readthrough) che, rispetto a molecole gi\ue0 note come il G418, abbiano effetti collaterali ridotti ed una maggiore specificit\ue0 per uno specifico codone. Una piccola molecola che sembra possedere una tale attivit\ue0 \ue8 il PTC124 (Welch, 2007). Ad oggi per\uf2 non c\u2019\ue8 ancora un consenso generale sul meccanismo di azione di questa molecola (stabilizzazione proteica, superamento del codone stop o altri meccanismi) (Welch, 2007; Auld, 2009). Al fine di chiarirlo abbiamo introdotto nel gene codificante la proteina GFP del plasmide pBOS-H2BGFP un codone di stop TGA mediante mutagenesi sito diretta. Cellule HeLa trasfettate con questo vettore e cellule IB3.1 (FC) sono state utilizzate per valutare la capacit\ue0 di indurre readthrough del PTC124</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="116513411"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="116513411"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 116513411; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=116513411]").text(description); $(".js-view-count[data-work-id=116513411]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 116513411; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='116513411']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 116513411, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (false){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "-1" } } $('.js-work-strip[data-work-id=116513411]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":116513411,"title":"Valutazione dell'azione readthorough della molecola PTC124 su sistemi modello cellulari contenenti mutazioni non senso e in cellule epiteliali bronchiali IB3.1 (delF508/W1282X) derivate da pazienti affetti da fibrosi cistica","translated_title":"","metadata":{"abstract":"Circa il 10% dei pazienti affetti da fibrosi cistica (FC) presenta nel gene CFTR mutazioni non senso (o \u0026#39;stop\u0026#39;: UGA, UAG or UAA, mutazioni di classe I) che bloccano prematuramente la sintesi della proteina. Attualmente non esiste una cura per questo tipo di mutazioni ma si sta cercando di individuare delle molecole che siano in grado di indurre la traduzione di codoni di stop prematuri (readthrough) che, rispetto a molecole gi\\ue0 note come il G418, abbiano effetti collaterali ridotti ed una maggiore specificit\\ue0 per uno specifico codone. Una piccola molecola che sembra possedere una tale attivit\\ue0 \\ue8 il PTC124 (Welch, 2007). Ad oggi per\\uf2 non c\\u2019\\ue8 ancora un consenso generale sul meccanismo di azione di questa molecola (stabilizzazione proteica, superamento del codone stop o altri meccanismi) (Welch, 2007; Auld, 2009). Al fine di chiarirlo abbiamo introdotto nel gene codificante la proteina GFP del plasmide pBOS-H2BGFP un codone di stop TGA mediante mutagenesi sito diretta. Cellule HeLa trasfettate con questo vettore e cellule IB3.1 (FC) sono state utilizzate per valutare la capacit\\ue0 di indurre readthrough del PTC124","publication_date":{"day":null,"month":null,"year":2013,"errors":{}}},"translated_abstract":"Circa il 10% dei pazienti affetti da fibrosi cistica (FC) presenta nel gene CFTR mutazioni non senso (o \u0026#39;stop\u0026#39;: UGA, UAG or UAA, mutazioni di classe I) che bloccano prematuramente la sintesi della proteina. Attualmente non esiste una cura per questo tipo di mutazioni ma si sta cercando di individuare delle molecole che siano in grado di indurre la traduzione di codoni di stop prematuri (readthrough) che, rispetto a molecole gi\\ue0 note come il G418, abbiano effetti collaterali ridotti ed una maggiore specificit\\ue0 per uno specifico codone. Una piccola molecola che sembra possedere una tale attivit\\ue0 \\ue8 il PTC124 (Welch, 2007). 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About 10% of patient affected by CF show a nonsense mutation. A potential treatment of this alteration is to promote translational readthrough of premature termination codons (PTCs) by translational readthrough inducing drugs such as Ataluren. In this context we aimed to compare the 1,2,4-oxadiazole core of Ataluren with a slightly different scaffold, the 1,3,4oxadiazole core. By a validated protocol consisting of computational screening, synthesis and biological tests we identified, a new small molecule with 1,3,4-oxadiazole core (2a/NV2445) showing high readthrough activity. Moreover, we evaluated quantitatively the CFTR functionality after 2a/NV2445 treatment in CF model systems and in cells expressing a nonsense-CFTR-mRNA. Finally, we studied the supramolecular interactions among readthrough inducing drugs and CFTR mRNA to assess the biological target/mechanism and further we used the QikProp program to compare the ADME properties of 2a/NV2445 and Ataluren</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="107630486"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="107630486"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 107630486; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=107630486]").text(description); $(".js-view-count[data-work-id=107630486]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 107630486; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='107630486']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 107630486, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (false){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "-1" } } $('.js-work-strip[data-work-id=107630486]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":107630486,"title":"Identification of a new molecule with readthrough activity to rescue CFTR protein function","translated_title":"","metadata":{"abstract":"In Cystic fibrosis (CF) disease nonsense mutations in the CFTR gene cause absence of the CFTR protein expression and a more severe form of the disease. About 10% of patient affected by CF show a nonsense mutation. A potential treatment of this alteration is to promote translational readthrough of premature termination codons (PTCs) by translational readthrough inducing drugs such as Ataluren. In this context we aimed to compare the 1,2,4-oxadiazole core of Ataluren with a slightly different scaffold, the 1,3,4oxadiazole core. By a validated protocol consisting of computational screening, synthesis and biological tests we identified, a new small molecule with 1,3,4-oxadiazole core (2a/NV2445) showing high readthrough activity. Moreover, we evaluated quantitatively the CFTR functionality after 2a/NV2445 treatment in CF model systems and in cells expressing a nonsense-CFTR-mRNA. 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$(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="104688110"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/104688110/Site_Specific_RNA_Editing_of_Stop_Mutations_in_the_CFTR_mRNA_of_Human_Bronchial_Cultured_Cells"><img alt="Research paper thumbnail of Site-Specific RNA Editing of Stop Mutations in the CFTR mRNA of Human Bronchial Cultured Cells" class="work-thumbnail" src="https://attachments.academia-assets.com/104350055/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/104688110/Site_Specific_RNA_Editing_of_Stop_Mutations_in_the_CFTR_mRNA_of_Human_Bronchial_Cultured_Cells">Site-Specific RNA Editing of Stop Mutations in the CFTR mRNA of Human Bronchial Cultured Cells</a></div><div class="wp-workCard_item"><span>International Journal of Molecular Sciences</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">It is reported that about 10% of cystic fibrosis (CF) patients worldwide have nonsense (stop) mut...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">It is reported that about 10% of cystic fibrosis (CF) patients worldwide have nonsense (stop) mutations in the CFTR gene, which cause the premature termination of CFTR protein synthesis, leading to a truncated and non-functional protein. To address this issue, we investigated the possibility of rescuing the CFTR nonsense mutation (UGA) by sequence-specific RNA editing in CFTR mutant CFF-16HBEge, W1282X, and G542X human bronchial cells. We used two different base editor tools that take advantage of ADAR enzymes (adenosine deaminase acting on RNA) to edit adenosine to inosine (A-to-I) within the mRNA: the REPAIRv2 (RNA Editing for Programmable A to I Replacement, version 2) and the minixABE (A to I Base Editor). Immunofluorescence experiments show that both approaches were able to recover the CFTR protein in the CFTR mutant cells. In addition, RT-qPCR confirmed the rescue of the CFTR full transcript. These findings suggest that site-specific RNA editing may efficiently correct the UGA...</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="72e31dab0aa71dff90c1d4faf91c5d7c" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":104350055,"asset_id":104688110,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/104350055/download_file?st=MTczMzM0MDI1Niw4LjIyMi4yMDguMTQ2&s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="104688110"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="104688110"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 104688110; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=104688110]").text(description); $(".js-view-count[data-work-id=104688110]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 104688110; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='104688110']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 104688110, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (true){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "72e31dab0aa71dff90c1d4faf91c5d7c" } } $('.js-work-strip[data-work-id=104688110]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":104688110,"title":"Site-Specific RNA Editing of Stop Mutations in the CFTR mRNA of Human Bronchial Cultured Cells","translated_title":"","metadata":{"abstract":"It is reported that about 10% of cystic fibrosis (CF) patients worldwide have nonsense (stop) mutations in the CFTR gene, which cause the premature termination of CFTR protein synthesis, leading to a truncated and non-functional protein. To address this issue, we investigated the possibility of rescuing the CFTR nonsense mutation (UGA) by sequence-specific RNA editing in CFTR mutant CFF-16HBEge, W1282X, and G542X human bronchial cells. We used two different base editor tools that take advantage of ADAR enzymes (adenosine deaminase acting on RNA) to edit adenosine to inosine (A-to-I) within the mRNA: the REPAIRv2 (RNA Editing for Programmable A to I Replacement, version 2) and the minixABE (A to I Base Editor). Immunofluorescence experiments show that both approaches were able to recover the CFTR protein in the CFTR mutant cells. In addition, RT-qPCR confirmed the rescue of the CFTR full transcript. These findings suggest that site-specific RNA editing may efficiently correct the UGA...","publisher":"MDPI AG","publication_name":"International Journal of Molecular Sciences"},"translated_abstract":"It is reported that about 10% of cystic fibrosis (CF) patients worldwide have nonsense (stop) mutations in the CFTR gene, which cause the premature termination of CFTR protein synthesis, leading to a truncated and non-functional protein. To address this issue, we investigated the possibility of rescuing the CFTR nonsense mutation (UGA) by sequence-specific RNA editing in CFTR mutant CFF-16HBEge, W1282X, and G542X human bronchial cells. We used two different base editor tools that take advantage of ADAR enzymes (adenosine deaminase acting on RNA) to edit adenosine to inosine (A-to-I) within the mRNA: the REPAIRv2 (RNA Editing for Programmable A to I Replacement, version 2) and the minixABE (A to I Base Editor). Immunofluorescence experiments show that both approaches were able to recover the CFTR protein in the CFTR mutant cells. In addition, RT-qPCR confirmed the rescue of the CFTR full transcript. These findings suggest that site-specific RNA editing may efficiently correct the UGA...","internal_url":"https://www.academia.edu/104688110/Site_Specific_RNA_Editing_of_Stop_Mutations_in_the_CFTR_mRNA_of_Human_Bronchial_Cultured_Cells","translated_internal_url":"","created_at":"2023-07-18T04:47:26.726-07:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":37824418,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[],"downloadable_attachments":[{"id":104350055,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/104350055/thumbnails/1.jpg","file_name":"pdf.pdf","download_url":"https://www.academia.edu/attachments/104350055/download_file?st=MTczMzM0MDI1Niw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"Site_Specific_RNA_Editing_of_Stop_Mutati.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/104350055/pdf-libre.pdf?1689683783=\u0026response-content-disposition=attachment%3B+filename%3DSite_Specific_RNA_Editing_of_Stop_Mutati.pdf\u0026Expires=1733328419\u0026Signature=OPoSN0I26~Fkk22DorJMR865Ut3DMsAkSNQXiJ10c6wJiPcNnBy8WQ0-vxqigQFslSIWPdnRbhMnXfYKuPrQCASuDkyfTYDkWewTNI9ZXlGQUnDzDUY3Lh8ow72XKUMU4Td4Zyi3GejMJlJ5DLguyt9bY0SabRF2mz2Ij9kYIX4o1woRsCDoV4JaqFBSUzjRHnUF6oiNKBrTXsbHXl71b6KX9cdSqwWP9~6zTrfdtl1kAQSpd4uRtzp9HbVNgTAT8HYPPXprBUbH9Ik-H93a3N67br1z9wl9~WLT~O~q-op6bAIBwhkItljrSKM1SNKP5803LYIeklZaGLxrZ8SQCg__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"slug":"Site_Specific_RNA_Editing_of_Stop_Mutations_in_the_CFTR_mRNA_of_Human_Bronchial_Cultured_Cells","translated_slug":"","page_count":11,"language":"en","content_type":"Work","owner":{"id":37824418,"first_name":"Raffaella","middle_initials":null,"last_name":"Melfi","page_name":"RaffaellaMelfi","domain_name":"independent","created_at":"2015-11-07T07:23:52.005-08:00","display_name":"Raffaella Melfi","url":"https://independent.academia.edu/RaffaellaMelfi"},"attachments":[{"id":104350055,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/104350055/thumbnails/1.jpg","file_name":"pdf.pdf","download_url":"https://www.academia.edu/attachments/104350055/download_file?st=MTczMzM0MDI1Niw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"Site_Specific_RNA_Editing_of_Stop_Mutati.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/104350055/pdf-libre.pdf?1689683783=\u0026response-content-disposition=attachment%3B+filename%3DSite_Specific_RNA_Editing_of_Stop_Mutati.pdf\u0026Expires=1733328419\u0026Signature=OPoSN0I26~Fkk22DorJMR865Ut3DMsAkSNQXiJ10c6wJiPcNnBy8WQ0-vxqigQFslSIWPdnRbhMnXfYKuPrQCASuDkyfTYDkWewTNI9ZXlGQUnDzDUY3Lh8ow72XKUMU4Td4Zyi3GejMJlJ5DLguyt9bY0SabRF2mz2Ij9kYIX4o1woRsCDoV4JaqFBSUzjRHnUF6oiNKBrTXsbHXl71b6KX9cdSqwWP9~6zTrfdtl1kAQSpd4uRtzp9HbVNgTAT8HYPPXprBUbH9Ik-H93a3N67br1z9wl9~WLT~O~q-op6bAIBwhkItljrSKM1SNKP5803LYIeklZaGLxrZ8SQCg__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"},{"id":104350056,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/104350056/thumbnails/1.jpg","file_name":"pdf.pdf","download_url":"https://www.academia.edu/attachments/104350056/download_file","bulk_download_file_name":"Site_Specific_RNA_Editing_of_Stop_Mutati.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/104350056/pdf-libre.pdf?1689683785=\u0026response-content-disposition=attachment%3B+filename%3DSite_Specific_RNA_Editing_of_Stop_Mutati.pdf\u0026Expires=1733328419\u0026Signature=Aw5Y3yWbXG2VaP4T-EX9eTem1nYiOhGjIcs1QllWwK~c1tT6t5A0QtDNn8OlSuCc5V45hsqFEqejlvqOlogu5XMje-nds1wwX4MaehqlYcfct1Cglj0QlNKXyXOPQyXCYjTRNWNbBCm0VLbldtfLcHmO9yzfsgde1ZtjKaaKQwvuH2IdcaJ9F~Koqdzy3jv4jj7DUs4KBlytOhsfQUi5QP6I0ODGmVlUVwJLlo~5KAvV0Qzlu4tsplHL8AUcBxJSa1PLSO~GtNYPGWmWoZ7EaSReWhSCmKmP5ysv7zHuJrte3NJ1isp8t-lZe7HlETC2Ii9jhpSM2Ce7fXN8ASpqHw__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"research_interests":[{"id":156,"name":"Genetics","url":"https://www.academia.edu/Documents/in/Genetics"},{"id":276821,"name":"Molecular sciences","url":"https://www.academia.edu/Documents/in/Molecular_sciences"}],"urls":[{"id":32951981,"url":"https://www.mdpi.com/1422-0067/24/13/10940/pdf"}]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="104688097"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/104688097/Investigating_the_Inhibition_of_FTSJ1_a_Tryptophan_tRNA_Specific_2_O_Methyltransferase_by_NV_TRIDs_as_a_Mechanism_of_Readthrough_in_Nonsense_Mutated_CFTR"><img alt="Research paper thumbnail of Investigating the Inhibition of FTSJ1 a Tryptophan tRNA-Specific 2′-O-Methyltransferase by NV TRIDs, as a Mechanism of Readthrough in Nonsense Mutated CFTR" class="work-thumbnail" src="https://attachments.academia-assets.com/104350071/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/104688097/Investigating_the_Inhibition_of_FTSJ1_a_Tryptophan_tRNA_Specific_2_O_Methyltransferase_by_NV_TRIDs_as_a_Mechanism_of_Readthrough_in_Nonsense_Mutated_CFTR">Investigating the Inhibition of FTSJ1 a Tryptophan tRNA-Specific 2′-O-Methyltransferase by NV TRIDs, as a Mechanism of Readthrough in Nonsense Mutated CFTR</a></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">Cystic Fibrosis (CF) is an autosomal recessive genetic disease caused by mutations in the CFTR ge...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">Cystic Fibrosis (CF) is an autosomal recessive genetic disease caused by mutations in the CFTR gene, coding for the CFTR chloride channel. About 10% of the CFTR gene mutations are &quot;stop&quot; mutations, which generate a Premature Termination Codon (PTC), thus synthesizing a truncated CFTR protein. A way to bypass PTC relies on ribosome readthrough, which is the ribosome’s capacity to skip a PTC, thus generating a full-length protein. “TRIDs” are molecules exerting ribosome readthrough; for some, the mechanism of action is still under debate. We investigate a possible mechanism of action (MOA) by which our recently synthesized TRIDs, namely NV848, NV914, and NV930, could exert their readthrough activity by in silico analysis and in vitro studies. Our results suggest a likely inhibition of FTSJ1, a tryptophan tRNA-specific 2’-O-methyltransferase.</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="480662024445237b116e0c47a029efb7" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":104350071,"asset_id":104688097,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/104350071/download_file?st=MTczMzM0MDI1Niw4LjIyMi4yMDguMTQ2&s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="104688097"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="104688097"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 104688097; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=104688097]").text(description); $(".js-view-count[data-work-id=104688097]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 104688097; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='104688097']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 104688097, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (true){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "480662024445237b116e0c47a029efb7" } } $('.js-work-strip[data-work-id=104688097]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":104688097,"title":"Investigating the Inhibition of FTSJ1 a Tryptophan tRNA-Specific 2′-O-Methyltransferase by NV TRIDs, as a Mechanism of Readthrough in Nonsense Mutated CFTR","translated_title":"","metadata":{"abstract":"Cystic Fibrosis (CF) is an autosomal recessive genetic disease caused by mutations in the CFTR gene, coding for the CFTR chloride channel. About 10% of the CFTR gene mutations are \u0026quot;stop\u0026quot; mutations, which generate a Premature Termination Codon (PTC), thus synthesizing a truncated CFTR protein. A way to bypass PTC relies on ribosome readthrough, which is the ribosome’s capacity to skip a PTC, thus generating a full-length protein. “TRIDs” are molecules exerting ribosome readthrough; for some, the mechanism of action is still under debate. We investigate a possible mechanism of action (MOA) by which our recently synthesized TRIDs, namely NV848, NV914, and NV930, could exert their readthrough activity by in silico analysis and in vitro studies. Our results suggest a likely inhibition of FTSJ1, a tryptophan tRNA-specific 2’-O-methyltransferase.","publisher":"MDPI AG"},"translated_abstract":"Cystic Fibrosis (CF) is an autosomal recessive genetic disease caused by mutations in the CFTR gene, coding for the CFTR chloride channel. About 10% of the CFTR gene mutations are \u0026quot;stop\u0026quot; mutations, which generate a Premature Termination Codon (PTC), thus synthesizing a truncated CFTR protein. A way to bypass PTC relies on ribosome readthrough, which is the ribosome’s capacity to skip a PTC, thus generating a full-length protein. “TRIDs” are molecules exerting ribosome readthrough; for some, the mechanism of action is still under debate. We investigate a possible mechanism of action (MOA) by which our recently synthesized TRIDs, namely NV848, NV914, and NV930, could exert their readthrough activity by in silico analysis and in vitro studies. Our results suggest a likely inhibition of FTSJ1, a tryptophan tRNA-specific 2’-O-methyltransferase.","internal_url":"https://www.academia.edu/104688097/Investigating_the_Inhibition_of_FTSJ1_a_Tryptophan_tRNA_Specific_2_O_Methyltransferase_by_NV_TRIDs_as_a_Mechanism_of_Readthrough_in_Nonsense_Mutated_CFTR","translated_internal_url":"","created_at":"2023-07-18T04:46:50.735-07:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":37824418,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[],"downloadable_attachments":[{"id":104350071,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/104350071/thumbnails/1.jpg","file_name":"pdf.pdf","download_url":"https://www.academia.edu/attachments/104350071/download_file?st=MTczMzM0MDI1Niw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"Investigating_the_Inhibition_of_FTSJ1_a.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/104350071/pdf-libre.pdf?1689683790=\u0026response-content-disposition=attachment%3B+filename%3DInvestigating_the_Inhibition_of_FTSJ1_a.pdf\u0026Expires=1733328419\u0026Signature=YMth53LP9EXhicEJHeKuatwEKg4Wxzawulrh7HU62IDtI0zdGrXdzEPEG3~IkdfGBWTqZgNIZPFVkEOMYYZLxLFwT00BKpQxUw-D8oYcXSXJ-bfJsAExZwOyeuV1R913NGW~BlZ2BpEKgiMSnifufMCwzmqKdk9yyMUdUEoMcCPtV6G6KNv1I~xfbEDJu4Ry2UXNGyoK3o89Sxbu2foYcr3KhoMh4AuZGu~nEE6VyIu8pRoyQihgbpAUKIj1-Z-~WTRXC4kKjHbWKdjPhvkgqY-at~e~iTfM7SsoEOnQ55IxyiXfAxo-bok1molPAC8vGmsAYD3DBtGGr-uroNEKxg__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"slug":"Investigating_the_Inhibition_of_FTSJ1_a_Tryptophan_tRNA_Specific_2_O_Methyltransferase_by_NV_TRIDs_as_a_Mechanism_of_Readthrough_in_Nonsense_Mutated_CFTR","translated_slug":"","page_count":19,"language":"en","content_type":"Work","owner":{"id":37824418,"first_name":"Raffaella","middle_initials":null,"last_name":"Melfi","page_name":"RaffaellaMelfi","domain_name":"independent","created_at":"2015-11-07T07:23:52.005-08:00","display_name":"Raffaella Melfi","url":"https://independent.academia.edu/RaffaellaMelfi"},"attachments":[{"id":104350071,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/104350071/thumbnails/1.jpg","file_name":"pdf.pdf","download_url":"https://www.academia.edu/attachments/104350071/download_file?st=MTczMzM0MDI1Niw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"Investigating_the_Inhibition_of_FTSJ1_a.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/104350071/pdf-libre.pdf?1689683790=\u0026response-content-disposition=attachment%3B+filename%3DInvestigating_the_Inhibition_of_FTSJ1_a.pdf\u0026Expires=1733328419\u0026Signature=YMth53LP9EXhicEJHeKuatwEKg4Wxzawulrh7HU62IDtI0zdGrXdzEPEG3~IkdfGBWTqZgNIZPFVkEOMYYZLxLFwT00BKpQxUw-D8oYcXSXJ-bfJsAExZwOyeuV1R913NGW~BlZ2BpEKgiMSnifufMCwzmqKdk9yyMUdUEoMcCPtV6G6KNv1I~xfbEDJu4Ry2UXNGyoK3o89Sxbu2foYcr3KhoMh4AuZGu~nEE6VyIu8pRoyQihgbpAUKIj1-Z-~WTRXC4kKjHbWKdjPhvkgqY-at~e~iTfM7SsoEOnQ55IxyiXfAxo-bok1molPAC8vGmsAYD3DBtGGr-uroNEKxg__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"research_interests":[{"id":156,"name":"Genetics","url":"https://www.academia.edu/Documents/in/Genetics"},{"id":181936,"name":"Gene","url":"https://www.academia.edu/Documents/in/Gene"},{"id":219562,"name":"Ribosome","url":"https://www.academia.edu/Documents/in/Ribosome"},{"id":276821,"name":"Molecular sciences","url":"https://www.academia.edu/Documents/in/Molecular_sciences"},{"id":1748403,"name":"Nonsense Mutation","url":"https://www.academia.edu/Documents/in/Nonsense_Mutation"},{"id":3458393,"name":"stop codon","url":"https://www.academia.edu/Documents/in/stop_codon"},{"id":4181301,"name":"Transfer-RNA","url":"https://www.academia.edu/Documents/in/Transfer_RNA"}],"urls":[]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="101104689"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/101104689/Preliminary_genetic_characterisation_of_Southern_Smooth_Snake_Coronella_girondica_Serpentes_Colubridae_populations_in_Italy_with_some_considerations_on_their_alpine_distribution"><img alt="Research paper thumbnail of Preliminary genetic characterisation of Southern Smooth Snake Coronella girondica (Serpentes, Colubridae) populations in Italy, with some considerations on their alpine distribution" class="work-thumbnail" src="https://attachments.academia-assets.com/101736432/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/101104689/Preliminary_genetic_characterisation_of_Southern_Smooth_Snake_Coronella_girondica_Serpentes_Colubridae_populations_in_Italy_with_some_considerations_on_their_alpine_distribution">Preliminary genetic characterisation of Southern Smooth Snake Coronella girondica (Serpentes, Colubridae) populations in Italy, with some considerations on their alpine distribution</a></div><div class="wp-workCard_item"><span>Acta Herpetologica</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">The Southern smooth snake, Coronella girondica, is a small-sized colubrid found in Northwest Afri...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">The Southern smooth snake, Coronella girondica, is a small-sized colubrid found in Northwest Africa and Southwest Europe. Mitochondrial DNA-based studies showed that the species can be split into five clades: two from Northwest Africa (one Moroccan and one Tunisian-Algerian) and three from Europe (one in the south-west of the Iberian Peninsula, one in the south-east of Spain and one in the rest of the European range). With regards to Italy, to date, only two samples have been analysed both from the Province of Pisa, Tuscany, pointing at that fact that genetic characterisation of Italian populations is still lacking. Accordingly, we have increased the sampling coverage with 19 new samples from northern and central regions of Italy, including two populations, apparently disconnected from the rest of the known range, and analysed their phylogenetic relationships using a portion of the mitochondrial cytochrome b gene. Our results confirm the general phylogenetic arrangement detected in ...</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="67686525170f05f9d4e9ebc5c2143d11" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":101736432,"asset_id":101104689,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/101736432/download_file?st=MTczMzM0MDI1Niw4LjIyMi4yMDguMTQ2&s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="101104689"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="101104689"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 101104689; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=101104689]").text(description); $(".js-view-count[data-work-id=101104689]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 101104689; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='101104689']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 101104689, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (true){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "67686525170f05f9d4e9ebc5c2143d11" } } $('.js-work-strip[data-work-id=101104689]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":101104689,"title":"Preliminary genetic characterisation of Southern Smooth Snake Coronella girondica (Serpentes, Colubridae) populations in Italy, with some considerations on their alpine distribution","translated_title":"","metadata":{"abstract":"The Southern smooth snake, Coronella girondica, is a small-sized colubrid found in Northwest Africa and Southwest Europe. 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$(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="101104688"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/101104688/Controlled_uptake_of_PFOA_in_adult_specimens_of_Paracentrotus_lividus_and_evaluation_of_gene_expression_in_their_gonads_and_embryos"><img alt="Research paper thumbnail of Controlled uptake of PFOA in adult specimens of Paracentrotus lividus and evaluation of gene expression in their gonads and embryos" class="work-thumbnail" src="https://attachments.academia-assets.com/101736430/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/101104688/Controlled_uptake_of_PFOA_in_adult_specimens_of_Paracentrotus_lividus_and_evaluation_of_gene_expression_in_their_gonads_and_embryos">Controlled uptake of PFOA in adult specimens of Paracentrotus lividus and evaluation of gene expression in their gonads and embryos</a></div><div class="wp-workCard_item"><span>Environmental Science and Pollution Research</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">Perfluorooctanoic acid (PFOA) has been largely used in the manufacturing industry but a few years...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">Perfluorooctanoic acid (PFOA) has been largely used in the manufacturing industry but a few years ago it turned out to be a dangerous pollutant which is now of concern for terrestrial and aquatic environments. Here, we investigated the bioaccumulation of PFOA in the sea urchin Paracentrotus lividus after exposure to different concentrations of the pollutant for 28 days. We observed rapid uptake of PFOA in the coelomic fluid collected weekly during the exposure period and high bioaccumulation in gonads at the end of the experiment. Interestingly, animals were also able to fast depurate when relocated to a clean environment. In addition, to assess the effect of PFOA on sea urchins’ physiological pathways, we analysed the expression profile of some marker genes both in the gonads and in the embryos obtained from parents exposed to PFOA. Our results suggest that PFOA is a persistent, bioaccumulative compound that adversely affects the health of the exposed organisms and their offspring ...</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="a35f84ffb673b5ff244c314750fbdf77" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":101736430,"asset_id":101104688,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/101736430/download_file?st=MTczMzM0MDI1Niw4LjIyMi4yMDguMTQ2&s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="101104688"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="101104688"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 101104688; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=101104688]").text(description); $(".js-view-count[data-work-id=101104688]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 101104688; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='101104688']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 101104688, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (true){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "a35f84ffb673b5ff244c314750fbdf77" } } $('.js-work-strip[data-work-id=101104688]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":101104688,"title":"Controlled uptake of PFOA in adult specimens of Paracentrotus lividus and evaluation of gene expression in their gonads and embryos","translated_title":"","metadata":{"abstract":"Perfluorooctanoic acid (PFOA) has been largely used in the manufacturing industry but a few years ago it turned out to be a dangerous pollutant which is now of concern for terrestrial and aquatic environments. 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Our results suggest that PFOA is a persistent, bioaccumulative compound that adversely affects the health of the exposed organisms and their offspring ...","publisher":"Springer Science and Business Media LLC","publication_name":"Environmental Science and Pollution Research"},"translated_abstract":"Perfluorooctanoic acid (PFOA) has been largely used in the manufacturing industry but a few years ago it turned out to be a dangerous pollutant which is now of concern for terrestrial and aquatic environments. Here, we investigated the bioaccumulation of PFOA in the sea urchin Paracentrotus lividus after exposure to different concentrations of the pollutant for 28 days. We observed rapid uptake of PFOA in the coelomic fluid collected weekly during the exposure period and high bioaccumulation in gonads at the end of the experiment. Interestingly, animals were also able to fast depurate when relocated to a clean environment. In addition, to assess the effect of PFOA on sea urchins’ physiological pathways, we analysed the expression profile of some marker genes both in the gonads and in the embryos obtained from parents exposed to PFOA. 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PNAS USA, 91, 12322-6 5. Di Caro, D, Melfi, R, Alessandro, C, Serio, G, Di Caro, V, Cavalieri...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">... PNAS USA, 91, 12322-6 5. Di Caro, D, Melfi, R, Alessandro, C, Serio, G, Di Caro, V, Cavalieri, V, Palla, F, Spinelli, G (2004). J Mol Biol, 342, 1367-77 6. D&amp;#x27;Apolito, D, Baiamonte, E, Bagliesi, M, Di Marzo, R, Calzolari, R, Ferro, L, Franco, V, Spinelli, G, Maggio, A, Acuto, S (2009). ...</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="101104607"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="101104607"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 101104607; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=101104607]").text(description); $(".js-view-count[data-work-id=101104607]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 101104607; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='101104607']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 101104607, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (false){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "-1" } } $('.js-work-strip[data-work-id=101104607]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":101104607,"title":"Enhancer, chromatin insulator, non-coding RNA and α-histone gene expression during embryogenesis of the sea urchin Paracentrotus lividus","translated_title":"","metadata":{"abstract":"... 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D\u0026amp;#x27;Apolito, D, Baiamonte, E, Bagliesi, M, Di Marzo, R, Calzolari, R, Ferro, L, Franco, V, Spinelli, G, Maggio, A, Acuto, S (2009). ...","internal_url":"https://www.academia.edu/101104607/Enhancer_chromatin_insulator_non_coding_RNA_and_%CE%B1_histone_gene_expression_during_embryogenesis_of_the_sea_urchin_Paracentrotus_lividus","translated_internal_url":"","created_at":"2023-05-02T03:53:18.406-07:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":37824418,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[],"downloadable_attachments":[],"slug":"Enhancer_chromatin_insulator_non_coding_RNA_and_α_histone_gene_expression_during_embryogenesis_of_the_sea_urchin_Paracentrotus_lividus","translated_slug":"","page_count":null,"language":"it","content_type":"Work","owner":{"id":37824418,"first_name":"Raffaella","middle_initials":null,"last_name":"Melfi","page_name":"RaffaellaMelfi","domain_name":"independent","created_at":"2015-11-07T07:23:52.005-08:00","display_name":"Raffaella Melfi","url":"https://independent.academia.edu/RaffaellaMelfi"},"attachments":[],"research_interests":[{"id":523,"name":"Chemistry","url":"https://www.academia.edu/Documents/in/Chemistry"},{"id":13827,"name":"Cell Biology","url":"https://www.academia.edu/Documents/in/Cell_Biology"},{"id":238813,"name":"Chromatin","url":"https://www.academia.edu/Documents/in/Chromatin"},{"id":541820,"name":"Enhancer","url":"https://www.academia.edu/Documents/in/Enhancer"},{"id":560354,"name":"Sea Urchin","url":"https://www.academia.edu/Documents/in/Sea_Urchin"},{"id":771480,"name":"Paracentrotus lividus","url":"https://www.academia.edu/Documents/in/Paracentrotus_lividus"},{"id":910660,"name":"Histone","url":"https://www.academia.edu/Documents/in/Histone"}],"urls":[]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="97006454"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/97006454/Uptake_and_photoinduced_degradation_of_phthalic_acid_esters_PAEs_in_Ulva_lactuca_highlight_its_potential_application_in_environmental_bioremediation"><img alt="Research paper thumbnail of Uptake and photoinduced degradation of phthalic acid esters (PAEs) in Ulva lactuca highlight its potential application in environmental bioremediation" class="work-thumbnail" src="https://attachments.academia-assets.com/98747713/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/97006454/Uptake_and_photoinduced_degradation_of_phthalic_acid_esters_PAEs_in_Ulva_lactuca_highlight_its_potential_application_in_environmental_bioremediation">Uptake and photoinduced degradation of phthalic acid esters (PAEs) in Ulva lactuca highlight its potential application in environmental bioremediation</a></div><div class="wp-workCard_item"><span>Environmental Science and Pollution Research</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">The bioaccumulation of phthalates was studied in fragments of Ulva lactuca exposed for a maximum ...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">The bioaccumulation of phthalates was studied in fragments of Ulva lactuca exposed for a maximum of 31 days at different concentrations of a solution of six phthalic acid esters (PAEs). The algal matrix showed rapid uptake since the first sampling, which increased over the time of the experimental period, at the end of which seaweed’s bioaccumulation potential was also evaluated. After the uptake, the algal matrix was subjected to UV irradiation in order to verify the removal of the phthalates. PAEs with higher octanol–water partition coefficients (logKow) and molecular weights were preferentially uptaken by U. lactuca in all the exposure experiments. It was observed that both accumulation (biota-sediment accumulation factor (log10BSAF) ranging from 3.75 to 4.02) and photodegradation (higher than 70% removal for all phthalates in 8 h) are more efficient at lower concentration levels. 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$a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="97006453"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/97006453/Pharmacophore_Based_Design_of_New_Chemical_Scaffolds_as_Translational_Readthrough_Inducing_Drugs_TRIDs_"><img alt="Research paper thumbnail of Pharmacophore-Based Design of New Chemical Scaffolds as Translational Readthrough-Inducing Drugs (TRIDs)" class="work-thumbnail" src="https://attachments.academia-assets.com/98747800/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/97006453/Pharmacophore_Based_Design_of_New_Chemical_Scaffolds_as_Translational_Readthrough_Inducing_Drugs_TRIDs_">Pharmacophore-Based Design of New Chemical Scaffolds as Translational Readthrough-Inducing Drugs (TRIDs)</a></div><div class="wp-workCard_item"><span>ACS Medicinal Chemistry Letters</span><span>, 2020</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="14523ad1dfb75e711617e14d4c1305ed" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":98747800,"asset_id":97006453,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/98747800/download_file?st=MTczMzM0MDI1Niw4LjIyMi4yMDguMTQ2&s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span 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Small molecules have been developed as TRIDs to trick the ribosomal machinery during recognition of the PTC. Herein we report a computational study to identify new TRID scaffolds. A pharmacophore approach was carried out on compounds that showed readthrough activity. The pharmacophore model applied to screen different libraries containing more than 87000 compounds identified four hit-compounds presenting scaffolds with diversity from the oxadiazole lead. These compounds have been synthesized and tested using the Fluc reporter harboring the UGA PTC. Moreover, the cytotoxic effect and the expression of the CFTR protein were evaluated. These compounds, a benzimidazole derivative (NV2899), a benzoxazole derivative (NV2913), a thiazole derivative (NV2909), and a benzene-1,3-disulfonate derivative (NV2907), were shown to be potential new lead compounds as TRIDs, boosting further efforts to address the optimization of the chemical scaffolds.","publication_date":{"day":null,"month":null,"year":2020,"errors":{}},"publication_name":"ACS Medicinal Chemistry Letters","grobid_abstract_attachment_id":98747800},"translated_abstract":null,"internal_url":"https://www.academia.edu/97006453/Pharmacophore_Based_Design_of_New_Chemical_Scaffolds_as_Translational_Readthrough_Inducing_Drugs_TRIDs_","translated_internal_url":"","created_at":"2023-02-16T06:28:57.115-08:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":37824418,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[],"downloadable_attachments":[{"id":98747800,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/98747800/thumbnails/1.jpg","file_name":"pdf.pdf","download_url":"https://www.academia.edu/attachments/98747800/download_file?st=MTczMzM0MDI1Niw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"Pharmacophore_Based_Design_of_New_Chemic.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/98747800/pdf-libre.pdf?1676559302=\u0026response-content-disposition=attachment%3B+filename%3DPharmacophore_Based_Design_of_New_Chemic.pdf\u0026Expires=1733328420\u0026Signature=K2pb0ogBdFZSdzkZy7PA7~55rzFQ7ZBet9HJGkJmlouCh7WDcfSUqGBD6PO62pWrzkz8qFFttLGT6PTyq-wPWyKvlYh24TcZV3k628bd9xBu6hfLJCzLa7dmopGK~qrQsEMIwJKMu-aJuWKs3HkXNoVIYM20CIP5gs~hYqIdd1SP-0WrzfMBYtbPh7PJb-2x0GODhvzXvArD8qpZCWIgWNKEwFW0a6x1xtHyvg-C3RU0nSmu7jq3Xkx5~G0aV3vOvXYiA-H~f3~BUsMeJ2alkqILuj0Ks-a8XLGsrGjiIia0aLABoarKFH6~9MJaPFKSu~Z3vx5tFTGclJ58mBNCwg__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"slug":"Pharmacophore_Based_Design_of_New_Chemical_Scaffolds_as_Translational_Readthrough_Inducing_Drugs_TRIDs_","translated_slug":"","page_count":7,"language":"en","content_type":"Work","owner":{"id":37824418,"first_name":"Raffaella","middle_initials":null,"last_name":"Melfi","page_name":"RaffaellaMelfi","domain_name":"independent","created_at":"2015-11-07T07:23:52.005-08:00","display_name":"Raffaella Melfi","url":"https://independent.academia.edu/RaffaellaMelfi"},"attachments":[{"id":98747800,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/98747800/thumbnails/1.jpg","file_name":"pdf.pdf","download_url":"https://www.academia.edu/attachments/98747800/download_file?st=MTczMzM0MDI1Niw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"Pharmacophore_Based_Design_of_New_Chemic.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/98747800/pdf-libre.pdf?1676559302=\u0026response-content-disposition=attachment%3B+filename%3DPharmacophore_Based_Design_of_New_Chemic.pdf\u0026Expires=1733328420\u0026Signature=K2pb0ogBdFZSdzkZy7PA7~55rzFQ7ZBet9HJGkJmlouCh7WDcfSUqGBD6PO62pWrzkz8qFFttLGT6PTyq-wPWyKvlYh24TcZV3k628bd9xBu6hfLJCzLa7dmopGK~qrQsEMIwJKMu-aJuWKs3HkXNoVIYM20CIP5gs~hYqIdd1SP-0WrzfMBYtbPh7PJb-2x0GODhvzXvArD8qpZCWIgWNKEwFW0a6x1xtHyvg-C3RU0nSmu7jq3Xkx5~G0aV3vOvXYiA-H~f3~BUsMeJ2alkqILuj0Ks-a8XLGsrGjiIia0aLABoarKFH6~9MJaPFKSu~Z3vx5tFTGclJ58mBNCwg__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"research_interests":[{"id":523,"name":"Chemistry","url":"https://www.academia.edu/Documents/in/Chemistry"},{"id":531,"name":"Organic Chemistry","url":"https://www.academia.edu/Documents/in/Organic_Chemistry"},{"id":4233,"name":"Computational Biology","url":"https://www.academia.edu/Documents/in/Computational_Biology"},{"id":6946,"name":"Cystic Fibrosis","url":"https://www.academia.edu/Documents/in/Cystic_Fibrosis"},{"id":26327,"name":"Medicine","url":"https://www.academia.edu/Documents/in/Medicine"},{"id":1337586,"name":"Pharmacophore","url":"https://www.academia.edu/Documents/in/Pharmacophore"},{"id":3789884,"name":"Pharmacology and pharmaceutical sciences","url":"https://www.academia.edu/Documents/in/Pharmacology_and_pharmaceutical_sciences"}],"urls":[{"id":29031017,"url":"https://pubs.acs.org/doi/pdf/10.1021/acsmedchemlett.9b00609"}]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="97006452"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" rel="nofollow" href="https://www.academia.edu/97006452/PTC124_Derivatives_as_a_Novel_Approach_to_Improve_the_Readthrough_of_Premature_Amber_and_Ochre_Stop_Codons"><img alt="Research paper thumbnail of PTC124 Derivatives as a Novel Approach to Improve the Readthrough of Premature Amber and Ochre Stop Codons" class="work-thumbnail" src="https://a.academia-assets.com/images/blank-paper.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" rel="nofollow" href="https://www.academia.edu/97006452/PTC124_Derivatives_as_a_Novel_Approach_to_Improve_the_Readthrough_of_Premature_Amber_and_Ochre_Stop_Codons">PTC124 Derivatives as a Novel Approach to Improve the Readthrough of Premature Amber and Ochre Stop Codons</a></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">The presence of Premature Stop Codons (PTCs) in mRNA results in protein truncation that is respon...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">The presence of Premature Stop Codons (PTCs) in mRNA results in protein truncation that is responsible for inherited (genetic) diseases. Approximately 10% (worldwide) of patients affected by cystic fibrosis (CF) have nonsense mutations (UAA, UAG or UGA) in the CF trans-membrane regulator (CFTR) gene. CFTR mutations in the two genes (alleles) of a patient can be different, with one mutation being delta-F508 and the other a nonsense mutation. Pharmacological approaches aimed to rescue protein function have been proposed to directly overcome nonsense mutations. PTC124 (Ataluren) a small molecule that mimic the activity of aminoglycosides has been suggested to allow PTCs readthrough (Welch EM et al. Nature. 2007 May 3;447(7140):87-91.). However, despite the results obtained from &quot;in vitro&quot; and &quot;in vivo&quot; experiments as well the advanced clinical trials done with Ataluren, some caveats exist. In fact Ataluren has a lower activity against UAA and UAG than UGA nonsense mutations and also there is no general consensus about its mechanism of action. We think that is very important to develop drugs capable of promoting better PTCs read-through found in CF patients. Our project is aimed to design and synthesize new small molecules possessing wider activity towards PTCs than Ataluren. To this end Ataluren derivatives with the geometrical requirements to match the hydrogen bonding of the PTCs present in the mRNA will be synthesized. To evaluate these small molecules we will use human cultured cells engineerized with plasmids harboring PTCs in the H2BGFP, FLuc and RLuc reporter genes (Auld DS et al. Proc Natl Acad Sci U S A. 2009 Mar 3;106(9):3585-90.). Ability of the new molecules to promote PTCs read-through will be assessed by detecting fluorescence of the H2BGFP reporter gene by microscopy and by luminometer, and at molecular level by immunoblotting and Real time RT-PCR. Validation will consist in assessing CFTR status showed by IB3-1epithelial cells after treatment with the newly synthesized small molecules. We expect to obtain newly synthesized compounds displaying, in preclinical settings, better bioavailability and better activity than Ataluren to restore expression of the full-length proteins. The project deals with innovative research and its results could open up new avenues for the understanding of the mechanism of action of these small molecules as well for the development of new drugs for PTCs caused pathology</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="97006452"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="97006452"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 97006452; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=97006452]").text(description); $(".js-view-count[data-work-id=97006452]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 97006452; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='97006452']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 97006452, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (false){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "-1" } } $('.js-work-strip[data-work-id=97006452]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":97006452,"title":"PTC124 Derivatives as a Novel Approach to Improve the Readthrough of Premature Amber and Ochre Stop Codons","translated_title":"","metadata":{"abstract":"The presence of Premature Stop Codons (PTCs) in mRNA results in protein truncation that is responsible for inherited (genetic) diseases. Approximately 10% (worldwide) of patients affected by cystic fibrosis (CF) have nonsense mutations (UAA, UAG or UGA) in the CF trans-membrane regulator (CFTR) gene. CFTR mutations in the two genes (alleles) of a patient can be different, with one mutation being delta-F508 and the other a nonsense mutation. Pharmacological approaches aimed to rescue protein function have been proposed to directly overcome nonsense mutations. PTC124 (Ataluren) a small molecule that mimic the activity of aminoglycosides has been suggested to allow PTCs readthrough (Welch EM et al. Nature. 2007 May 3;447(7140):87-91.). However, despite the results obtained from \u0026quot;in vitro\u0026quot; and \u0026quot;in vivo\u0026quot; experiments as well the advanced clinical trials done with Ataluren, some caveats exist. In fact Ataluren has a lower activity against UAA and UAG than UGA nonsense mutations and also there is no general consensus about its mechanism of action. We think that is very important to develop drugs capable of promoting better PTCs read-through found in CF patients. Our project is aimed to design and synthesize new small molecules possessing wider activity towards PTCs than Ataluren. To this end Ataluren derivatives with the geometrical requirements to match the hydrogen bonding of the PTCs present in the mRNA will be synthesized. To evaluate these small molecules we will use human cultured cells engineerized with plasmids harboring PTCs in the H2BGFP, FLuc and RLuc reporter genes (Auld DS et al. Proc Natl Acad Sci U S A. 2009 Mar 3;106(9):3585-90.). Ability of the new molecules to promote PTCs read-through will be assessed by detecting fluorescence of the H2BGFP reporter gene by microscopy and by luminometer, and at molecular level by immunoblotting and Real time RT-PCR. Validation will consist in assessing CFTR status showed by IB3-1epithelial cells after treatment with the newly synthesized small molecules. We expect to obtain newly synthesized compounds displaying, in preclinical settings, better bioavailability and better activity than Ataluren to restore expression of the full-length proteins. The project deals with innovative research and its results could open up new avenues for the understanding of the mechanism of action of these small molecules as well for the development of new drugs for PTCs caused pathology"},"translated_abstract":"The presence of Premature Stop Codons (PTCs) in mRNA results in protein truncation that is responsible for inherited (genetic) diseases. Approximately 10% (worldwide) of patients affected by cystic fibrosis (CF) have nonsense mutations (UAA, UAG or UGA) in the CF trans-membrane regulator (CFTR) gene. CFTR mutations in the two genes (alleles) of a patient can be different, with one mutation being delta-F508 and the other a nonsense mutation. Pharmacological approaches aimed to rescue protein function have been proposed to directly overcome nonsense mutations. PTC124 (Ataluren) a small molecule that mimic the activity of aminoglycosides has been suggested to allow PTCs readthrough (Welch EM et al. Nature. 2007 May 3;447(7140):87-91.). However, despite the results obtained from \u0026quot;in vitro\u0026quot; and \u0026quot;in vivo\u0026quot; experiments as well the advanced clinical trials done with Ataluren, some caveats exist. In fact Ataluren has a lower activity against UAA and UAG than UGA nonsense mutations and also there is no general consensus about its mechanism of action. We think that is very important to develop drugs capable of promoting better PTCs read-through found in CF patients. Our project is aimed to design and synthesize new small molecules possessing wider activity towards PTCs than Ataluren. To this end Ataluren derivatives with the geometrical requirements to match the hydrogen bonding of the PTCs present in the mRNA will be synthesized. To evaluate these small molecules we will use human cultured cells engineerized with plasmids harboring PTCs in the H2BGFP, FLuc and RLuc reporter genes (Auld DS et al. Proc Natl Acad Sci U S A. 2009 Mar 3;106(9):3585-90.). Ability of the new molecules to promote PTCs read-through will be assessed by detecting fluorescence of the H2BGFP reporter gene by microscopy and by luminometer, and at molecular level by immunoblotting and Real time RT-PCR. Validation will consist in assessing CFTR status showed by IB3-1epithelial cells after treatment with the newly synthesized small molecules. We expect to obtain newly synthesized compounds displaying, in preclinical settings, better bioavailability and better activity than Ataluren to restore expression of the full-length proteins. The project deals with innovative research and its results could open up new avenues for the understanding of the mechanism of action of these small molecules as well for the development of new drugs for PTCs caused pathology","internal_url":"https://www.academia.edu/97006452/PTC124_Derivatives_as_a_Novel_Approach_to_Improve_the_Readthrough_of_Premature_Amber_and_Ochre_Stop_Codons","translated_internal_url":"","created_at":"2023-02-16T06:28:56.927-08:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":37824418,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[],"downloadable_attachments":[],"slug":"PTC124_Derivatives_as_a_Novel_Approach_to_Improve_the_Readthrough_of_Premature_Amber_and_Ochre_Stop_Codons","translated_slug":"","page_count":null,"language":"en","content_type":"Work","owner":{"id":37824418,"first_name":"Raffaella","middle_initials":null,"last_name":"Melfi","page_name":"RaffaellaMelfi","domain_name":"independent","created_at":"2015-11-07T07:23:52.005-08:00","display_name":"Raffaella Melfi","url":"https://independent.academia.edu/RaffaellaMelfi"},"attachments":[],"research_interests":[{"id":7710,"name":"Biology","url":"https://www.academia.edu/Documents/in/Biology"},{"id":181936,"name":"Gene","url":"https://www.academia.edu/Documents/in/Gene"}],"urls":[]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="97006380"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/97006380/The_genetic_identity_of_the_only_Italian_population_of_the_genus_Macroprotodon_Guichenot_1850_on_the_island_of_Lampedusa_Sicily"><img alt="Research paper thumbnail of The genetic identity of the only Italian population of the genus Macroprotodon Guichenot, 1850 on the island of Lampedusa, Sicily" class="work-thumbnail" src="https://attachments.academia-assets.com/98747731/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/97006380/The_genetic_identity_of_the_only_Italian_population_of_the_genus_Macroprotodon_Guichenot_1850_on_the_island_of_Lampedusa_Sicily">The genetic identity of the only Italian population of the genus Macroprotodon Guichenot, 1850 on the island of Lampedusa, Sicily</a></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">The only Italian population of false smooth snakes is found on Lampedusa, a small island located ...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">The only Italian population of false smooth snakes is found on Lampedusa, a small island located in the Sicilian Channel and part of the African continental shelf. The taxonomic identity of this population is currently uncertain, although it is most often attributed to Macroprotodon cucullatus textilis on a morphological basis. We present here the first genetic data on this population. The analysis carried out on the mitochondrial cytochrome b gene shows that the Lampedusan false smooth snake belongs to a clade shared with a single sample from central Tunisia. The genetic distance between this lineage and its sister group (M. abubakeri) is comparable to or higher than that found among many reptile species. To define the identity of this distinctive lineage, as well as the Macroprotodon taxonomic structure, further sampling efforts within the undersampled distribution area of this genus and more extensive analyses will be necessary.</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="cd612ba331289ce89a1ad29d1e5442aa" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":98747731,"asset_id":97006380,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/98747731/download_file?st=MTczMzM0MDI1Niw4LjIyMi4yMDguMTQ2&s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="97006380"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="97006380"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 97006380; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=97006380]").text(description); $(".js-view-count[data-work-id=97006380]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 97006380; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='97006380']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 97006380, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (true){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "cd612ba331289ce89a1ad29d1e5442aa" } } $('.js-work-strip[data-work-id=97006380]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":97006380,"title":"The genetic identity of the only Italian population of the genus Macroprotodon Guichenot, 1850 on the island of Lampedusa, Sicily","translated_title":"","metadata":{"abstract":"The only Italian population of false smooth snakes is found on Lampedusa, a small island located in the Sicilian Channel and part of the African continental shelf. The taxonomic identity of this population is currently uncertain, although it is most often attributed to Macroprotodon cucullatus textilis on a morphological basis. We present here the first genetic data on this population. The analysis carried out on the mitochondrial cytochrome b gene shows that the Lampedusan false smooth snake belongs to a clade shared with a single sample from central Tunisia. The genetic distance between this lineage and its sister group (M. abubakeri) is comparable to or higher than that found among many reptile species. To define the identity of this distinctive lineage, as well as the Macroprotodon taxonomic structure, further sampling efforts within the undersampled distribution area of this genus and more extensive analyses will be necessary.","publisher":"Senckenberg Gesellschaft für Naturforschung","ai_title_tag":"Genetic Analysis of Italian Macroprotodon on Lampedusa Island","publication_date":{"day":null,"month":null,"year":2020,"errors":{}}},"translated_abstract":"The only Italian population of false smooth snakes is found on Lampedusa, a small island located in the Sicilian Channel and part of the African continental shelf. The taxonomic identity of this population is currently uncertain, although it is most often attributed to Macroprotodon cucullatus textilis on a morphological basis. We present here the first genetic data on this population. The analysis carried out on the mitochondrial cytochrome b gene shows that the Lampedusan false smooth snake belongs to a clade shared with a single sample from central Tunisia. The genetic distance between this lineage and its sister group (M. abubakeri) is comparable to or higher than that found among many reptile species. To define the identity of this distinctive lineage, as well as the Macroprotodon taxonomic structure, further sampling efforts within the undersampled distribution area of this genus and more extensive analyses will be necessary.","internal_url":"https://www.academia.edu/97006380/The_genetic_identity_of_the_only_Italian_population_of_the_genus_Macroprotodon_Guichenot_1850_on_the_island_of_Lampedusa_Sicily","translated_internal_url":"","created_at":"2023-02-16T06:27:57.718-08:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":37824418,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[],"downloadable_attachments":[{"id":98747731,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/98747731/thumbnails/1.jpg","file_name":"VZ_article_30068.pdf","download_url":"https://www.academia.edu/attachments/98747731/download_file?st=MTczMzM0MDI1Niw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"The_genetic_identity_of_the_only_Italian.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/98747731/VZ_article_30068-libre.pdf?1676559311=\u0026response-content-disposition=attachment%3B+filename%3DThe_genetic_identity_of_the_only_Italian.pdf\u0026Expires=1733328420\u0026Signature=Y2drnjiInItBdx1Mf7TJcTMe6cUoXatNpzAMR9hJOjIaspP8PSwUqWZVYREA~6UNL5FhgcOMfofAZ0TM5T7noXVTumZ1SmPN1fjzm92FTQSeKFlYzAK3toCHvcnfBWKedRZFh748ALYLuxFXaDsemQvWK1k1C5HpGa83FqwL3XfDZxtMMWmO-2ajjtB3lnGrUo1p4gibzMA2OQ4ypU1KrWvgq8mlauWM4SnkIYsQILl-NYNJT5bd4Ulm2ByPcV2~lMbtT0rvkXQWZvg9QOtAKauwOfEkwnrNZBbxKBZwtIs~Q8OcZC6MLCLj-0cWnNYoYu4QZlPrhkT1Lh05dWcHQA__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"slug":"The_genetic_identity_of_the_only_Italian_population_of_the_genus_Macroprotodon_Guichenot_1850_on_the_island_of_Lampedusa_Sicily","translated_slug":"","page_count":6,"language":"en","content_type":"Work","owner":{"id":37824418,"first_name":"Raffaella","middle_initials":null,"last_name":"Melfi","page_name":"RaffaellaMelfi","domain_name":"independent","created_at":"2015-11-07T07:23:52.005-08:00","display_name":"Raffaella Melfi","url":"https://independent.academia.edu/RaffaellaMelfi"},"attachments":[{"id":98747731,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/98747731/thumbnails/1.jpg","file_name":"VZ_article_30068.pdf","download_url":"https://www.academia.edu/attachments/98747731/download_file?st=MTczMzM0MDI1Niw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"The_genetic_identity_of_the_only_Italian.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/98747731/VZ_article_30068-libre.pdf?1676559311=\u0026response-content-disposition=attachment%3B+filename%3DThe_genetic_identity_of_the_only_Italian.pdf\u0026Expires=1733328420\u0026Signature=Y2drnjiInItBdx1Mf7TJcTMe6cUoXatNpzAMR9hJOjIaspP8PSwUqWZVYREA~6UNL5FhgcOMfofAZ0TM5T7noXVTumZ1SmPN1fjzm92FTQSeKFlYzAK3toCHvcnfBWKedRZFh748ALYLuxFXaDsemQvWK1k1C5HpGa83FqwL3XfDZxtMMWmO-2ajjtB3lnGrUo1p4gibzMA2OQ4ypU1KrWvgq8mlauWM4SnkIYsQILl-NYNJT5bd4Ulm2ByPcV2~lMbtT0rvkXQWZvg9QOtAKauwOfEkwnrNZBbxKBZwtIs~Q8OcZC6MLCLj-0cWnNYoYu4QZlPrhkT1Lh05dWcHQA__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"research_interests":[{"id":261,"name":"Geography","url":"https://www.academia.edu/Documents/in/Geography"},{"id":17018,"name":"Music and identity","url":"https://www.academia.edu/Documents/in/Music_and_identity"},{"id":45213,"name":"Italy","url":"https://www.academia.edu/Documents/in/Italy"},{"id":64336,"name":"Population","url":"https://www.academia.edu/Documents/in/Population"},{"id":195890,"name":"Genus","url":"https://www.academia.edu/Documents/in/Genus"},{"id":285947,"name":"Vertebrate Zoology","url":"https://www.academia.edu/Documents/in/Vertebrate_Zoology"},{"id":723582,"name":"Music Teacher Identity","url":"https://www.academia.edu/Documents/in/Music_Teacher_Identity"}],"urls":[]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="86312920"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/86312920/Impact_of_Heavy_Metals_in_Eggs_and_Tissues_of_C_caretta_along_the_Sicilian_Coast_Mediterranean_Sea_"><img alt="Research paper thumbnail of Impact of Heavy Metals in Eggs and Tissues of C. caretta along the Sicilian Coast (Mediterranean Sea)" class="work-thumbnail" src="https://attachments.academia-assets.com/90792057/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/86312920/Impact_of_Heavy_Metals_in_Eggs_and_Tissues_of_C_caretta_along_the_Sicilian_Coast_Mediterranean_Sea_">Impact of Heavy Metals in Eggs and Tissues of C. caretta along the Sicilian Coast (Mediterranean Sea)</a></div><div class="wp-workCard_item"><span>Environments</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">In this study we compared the heavy metal concentration found in different tissues and eggs of th...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">In this study we compared the heavy metal concentration found in different tissues and eggs of the loggerhead sea turtle and evaluated the potential ecotoxicological risk for this important species. Eighteen heavy metal elements were determined in different tissues (liver, gonads, fat, kidney, heart, brain, and spleen) of nine individuals of Caretta caretta found stranded along the coasts of Messina (Sicily, Italy) and in the shell and yolk of six eggs from the island of Linosa (Sicily, Italy). For the analysis of the heavy metals, we used the analytical procedures in accordance with the EPA 200.8 method supplemented by EPA 6020b with three replicates for each measurement. The elements analysed showed different organotropism even if the liver showed higher levels of bioaccumulation. Turtles’ tissues showed the highest values of iron in the liver, followed by zinc in the heart and arsenic in the kidney. Regarding eggs, zinc, iron, and barium were dominant in the yolk and iron, boron,...</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="d0c25e27c01bee2f956130b065512b1f" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":90792057,"asset_id":86312920,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/90792057/download_file?st=MTczMzM0MDI1Niw4LjIyMi4yMDguMTQ2&s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="86312920"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="86312920"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 86312920; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=86312920]").text(description); $(".js-view-count[data-work-id=86312920]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 86312920; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='86312920']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 86312920, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (true){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "d0c25e27c01bee2f956130b065512b1f" } } $('.js-work-strip[data-work-id=86312920]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":86312920,"title":"Impact of Heavy Metals in Eggs and Tissues of C. caretta along the Sicilian Coast (Mediterranean Sea)","translated_title":"","metadata":{"abstract":"In this study we compared the heavy metal concentration found in different tissues and eggs of the loggerhead sea turtle and evaluated the potential ecotoxicological risk for this important species. Eighteen heavy metal elements were determined in different tissues (liver, gonads, fat, kidney, heart, brain, and spleen) of nine individuals of Caretta caretta found stranded along the coasts of Messina (Sicily, Italy) and in the shell and yolk of six eggs from the island of Linosa (Sicily, Italy). For the analysis of the heavy metals, we used the analytical procedures in accordance with the EPA 200.8 method supplemented by EPA 6020b with three replicates for each measurement. The elements analysed showed different organotropism even if the liver showed higher levels of bioaccumulation. Turtles’ tissues showed the highest values of iron in the liver, followed by zinc in the heart and arsenic in the kidney. Regarding eggs, zinc, iron, and barium were dominant in the yolk and iron, boron,...","publisher":"MDPI AG","ai_title_tag":"Heavy Metal Contamination in C. caretta Tissues and Eggs","publication_name":"Environments"},"translated_abstract":"In this study we compared the heavy metal concentration found in different tissues and eggs of the loggerhead sea turtle and evaluated the potential ecotoxicological risk for this important species. Eighteen heavy metal elements were determined in different tissues (liver, gonads, fat, kidney, heart, brain, and spleen) of nine individuals of Caretta caretta found stranded along the coasts of Messina (Sicily, Italy) and in the shell and yolk of six eggs from the island of Linosa (Sicily, Italy). For the analysis of the heavy metals, we used the analytical procedures in accordance with the EPA 200.8 method supplemented by EPA 6020b with three replicates for each measurement. The elements analysed showed different organotropism even if the liver showed higher levels of bioaccumulation. Turtles’ tissues showed the highest values of iron in the liver, followed by zinc in the heart and arsenic in the kidney. Regarding eggs, zinc, iron, and barium were dominant in the yolk and iron, boron,...","internal_url":"https://www.academia.edu/86312920/Impact_of_Heavy_Metals_in_Eggs_and_Tissues_of_C_caretta_along_the_Sicilian_Coast_Mediterranean_Sea_","translated_internal_url":"","created_at":"2022-09-08T00:51:42.530-07:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":37824418,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[],"downloadable_attachments":[{"id":90792057,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/90792057/thumbnails/1.jpg","file_name":"pdf.pdf","download_url":"https://www.academia.edu/attachments/90792057/download_file?st=MTczMzM0MDI1Niw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"Impact_of_Heavy_Metals_in_Eggs_and_Tissu.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/90792057/pdf-libre.pdf?1662678843=\u0026response-content-disposition=attachment%3B+filename%3DImpact_of_Heavy_Metals_in_Eggs_and_Tissu.pdf\u0026Expires=1733328420\u0026Signature=SgMbdFtX~zaWEVdstDUZ14K2yLc7WMf9RtHQ--NvdIAp1spCMOab4TZIsEvTlGNbowrzjXpRIWPQ8fRy6A9IlPUKl3G-ZpTKGQrzWvmWLqaVHjSfAs5pnRU1tHZHh5d1g7~SRUSpB4S1F6IJ3JDxJ~MKis~k9~CKr3JZoG~AMozncXrQUiwTF9g4IfWaLRgBVvKxGJ6HLbMRpqJ-x-ybR76CNBgFuneJOWmt-Fn7dC8tKluab~QjS7hKpK-ruvhdfLXuFUG8dQqvH1uDA2LpVy4u0ZXT1qmvlMS6xye4CQMbp0sKrLYgHlCLUF8GGRf~awX2M07byhgc7a-CDO~kPg__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"slug":"Impact_of_Heavy_Metals_in_Eggs_and_Tissues_of_C_caretta_along_the_Sicilian_Coast_Mediterranean_Sea_","translated_slug":"","page_count":10,"language":"en","content_type":"Work","owner":{"id":37824418,"first_name":"Raffaella","middle_initials":null,"last_name":"Melfi","page_name":"RaffaellaMelfi","domain_name":"independent","created_at":"2015-11-07T07:23:52.005-08:00","display_name":"Raffaella Melfi","url":"https://independent.academia.edu/RaffaellaMelfi"},"attachments":[{"id":90792057,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/90792057/thumbnails/1.jpg","file_name":"pdf.pdf","download_url":"https://www.academia.edu/attachments/90792057/download_file?st=MTczMzM0MDI1Niw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"Impact_of_Heavy_Metals_in_Eggs_and_Tissu.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/90792057/pdf-libre.pdf?1662678843=\u0026response-content-disposition=attachment%3B+filename%3DImpact_of_Heavy_Metals_in_Eggs_and_Tissu.pdf\u0026Expires=1733328420\u0026Signature=SgMbdFtX~zaWEVdstDUZ14K2yLc7WMf9RtHQ--NvdIAp1spCMOab4TZIsEvTlGNbowrzjXpRIWPQ8fRy6A9IlPUKl3G-ZpTKGQrzWvmWLqaVHjSfAs5pnRU1tHZHh5d1g7~SRUSpB4S1F6IJ3JDxJ~MKis~k9~CKr3JZoG~AMozncXrQUiwTF9g4IfWaLRgBVvKxGJ6HLbMRpqJ-x-ybR76CNBgFuneJOWmt-Fn7dC8tKluab~QjS7hKpK-ruvhdfLXuFUG8dQqvH1uDA2LpVy4u0ZXT1qmvlMS6xye4CQMbp0sKrLYgHlCLUF8GGRf~awX2M07byhgc7a-CDO~kPg__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"research_interests":[{"id":1320175,"name":"Environments","url":"https://www.academia.edu/Documents/in/Environments"}],"urls":[{"id":23687870,"url":"https://www.mdpi.com/2076-3298/9/7/88/pdf"}]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> </div><div class="profile--tab_content_container js-tab-pane tab-pane" data-section-id="3951942" id="papers"><div class="js-work-strip profile--work_container" data-work-id="116513487"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" rel="nofollow" href="https://www.academia.edu/116513487/Homeobox_genes_and_sea_urchin_development"><img alt="Research paper thumbnail of Homeobox genes and sea urchin development" class="work-thumbnail" src="https://a.academia-assets.com/images/blank-paper.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" rel="nofollow" href="https://www.academia.edu/116513487/Homeobox_genes_and_sea_urchin_development">Homeobox genes and sea urchin development</a></div><div class="wp-workCard_item"><span>PubMed</span><span>, 2000</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">We describe the expression of three Paracentrotus lividus homeobox-containing genes of the disper...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">We describe the expression of three Paracentrotus lividus homeobox-containing genes of the dispersed class during sea urchin embryogenesis and discuss their possible roles in the mechanisms of cell specification and embryo morphogenesis. PlHbox12 represents the first regulator identified in sea urchin that belongs to the zygotic class of transcription factors. Its early and transient expression and the localization of transcripts suggests that PlHbox12 is involved in cell fate specification of the oral or aboral ectodermal territories at the early cleavage stages. PlHbox9 is expressed just after the completion of gastrulation in a narrow stripe of cells at the ectoderm-endoderm boundary. It probably organizes a novel spatial boundary which definitely separates the archenteron and the aboral ectoderm. Finally, the spatial and temporal expression of the PlOtp gene strongly indicate that this regulator is conditionally activated in few cells of the oral ectoderm and is involved in patterning of this territory at late stages. Furthermore, our data indicate that PlOtp acts upstream of signaling systems that lead to the activation of the primary mesenchyme cell gene expression program and skeletal morphogenesis.</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="116513487"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="116513487"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 116513487; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=116513487]").text(description); $(".js-view-count[data-work-id=116513487]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 116513487; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='116513487']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 116513487, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (false){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "-1" } } $('.js-work-strip[data-work-id=116513487]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":116513487,"title":"Homeobox genes and sea urchin development","translated_title":"","metadata":{"abstract":"We describe the expression of three Paracentrotus lividus homeobox-containing genes of the dispersed class during sea urchin embryogenesis and discuss their possible roles in the mechanisms of cell specification and embryo morphogenesis. PlHbox12 represents the first regulator identified in sea urchin that belongs to the zygotic class of transcription factors. Its early and transient expression and the localization of transcripts suggests that PlHbox12 is involved in cell fate specification of the oral or aboral ectodermal territories at the early cleavage stages. PlHbox9 is expressed just after the completion of gastrulation in a narrow stripe of cells at the ectoderm-endoderm boundary. It probably organizes a novel spatial boundary which definitely separates the archenteron and the aboral ectoderm. Finally, the spatial and temporal expression of the PlOtp gene strongly indicate that this regulator is conditionally activated in few cells of the oral ectoderm and is involved in patterning of this territory at late stages. Furthermore, our data indicate that PlOtp acts upstream of signaling systems that lead to the activation of the primary mesenchyme cell gene expression program and skeletal morphogenesis.","publication_date":{"day":null,"month":null,"year":2000,"errors":{}},"publication_name":"PubMed"},"translated_abstract":"We describe the expression of three Paracentrotus lividus homeobox-containing genes of the dispersed class during sea urchin embryogenesis and discuss their possible roles in the mechanisms of cell specification and embryo morphogenesis. PlHbox12 represents the first regulator identified in sea urchin that belongs to the zygotic class of transcription factors. Its early and transient expression and the localization of transcripts suggests that PlHbox12 is involved in cell fate specification of the oral or aboral ectodermal territories at the early cleavage stages. PlHbox9 is expressed just after the completion of gastrulation in a narrow stripe of cells at the ectoderm-endoderm boundary. It probably organizes a novel spatial boundary which definitely separates the archenteron and the aboral ectoderm. Finally, the spatial and temporal expression of the PlOtp gene strongly indicate that this regulator is conditionally activated in few cells of the oral ectoderm and is involved in patterning of this territory at late stages. Furthermore, our data indicate that PlOtp acts upstream of signaling systems that lead to the activation of the primary mesenchyme cell gene expression program and skeletal morphogenesis.","internal_url":"https://www.academia.edu/116513487/Homeobox_genes_and_sea_urchin_development","translated_internal_url":"","created_at":"2024-03-21T07:13:36.921-07:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":37824418,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[],"downloadable_attachments":[],"slug":"Homeobox_genes_and_sea_urchin_development","translated_slug":"","page_count":null,"language":"en","content_type":"Work","owner":{"id":37824418,"first_name":"Raffaella","middle_initials":null,"last_name":"Melfi","page_name":"RaffaellaMelfi","domain_name":"independent","created_at":"2015-11-07T07:23:52.005-08:00","display_name":"Raffaella Melfi","url":"https://independent.academia.edu/RaffaellaMelfi"},"attachments":[],"research_interests":[{"id":1083,"name":"Developmental Biology","url":"https://www.academia.edu/Documents/in/Developmental_Biology"},{"id":7710,"name":"Biology","url":"https://www.academia.edu/Documents/in/Biology"},{"id":13827,"name":"Cell Biology","url":"https://www.academia.edu/Documents/in/Cell_Biology"},{"id":23323,"name":"Transcription Factors","url":"https://www.academia.edu/Documents/in/Transcription_Factors"},{"id":24124,"name":"Morphogenesis","url":"https://www.academia.edu/Documents/in/Morphogenesis"},{"id":26327,"name":"Medicine","url":"https://www.academia.edu/Documents/in/Medicine"},{"id":37836,"name":"In Situ Hybridization","url":"https://www.academia.edu/Documents/in/In_Situ_Hybridization"},{"id":47884,"name":"Biological Sciences","url":"https://www.academia.edu/Documents/in/Biological_Sciences"},{"id":98939,"name":"Pubmed","url":"https://www.academia.edu/Documents/in/Pubmed"},{"id":118047,"name":"Gastrulation","url":"https://www.academia.edu/Documents/in/Gastrulation"},{"id":229847,"name":"Sea Urchins","url":"https://www.academia.edu/Documents/in/Sea_Urchins"},{"id":295728,"name":"Molecular cloning","url":"https://www.academia.edu/Documents/in/Molecular_cloning"},{"id":413195,"name":"Time Factors","url":"https://www.academia.edu/Documents/in/Time_Factors"},{"id":560354,"name":"Sea Urchin","url":"https://www.academia.edu/Documents/in/Sea_Urchin"},{"id":1256683,"name":"Bone and Bones","url":"https://www.academia.edu/Documents/in/Bone_and_Bones"},{"id":3024887,"name":"Strongylocentrotus purpuratus","url":"https://www.academia.edu/Documents/in/Strongylocentrotus_purpuratus"},{"id":3653812,"name":"endoderm","url":"https://www.academia.edu/Documents/in/endoderm"},{"id":3763225,"name":"Medical and Health Sciences","url":"https://www.academia.edu/Documents/in/Medical_and_Health_Sciences"},{"id":4116893,"name":"ectoderm","url":"https://www.academia.edu/Documents/in/ectoderm"}],"urls":[{"id":40494670,"url":"https://pubmed.ncbi.nlm.nih.gov/11061427"}]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="116513486"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" rel="nofollow" href="https://www.academia.edu/116513486/The_sea_urchin_histone_H2A_enhancer_binding_protein_MBF_1_is_needed_for_maximal_expression_also_for_the_H3_gene_while_is_buffered_by_the_sns5_insulator_on_its_interaction_with_the_downstream_H1_promoter"><img alt="Research paper thumbnail of The sea urchin histone H2A enhancer-binding protein MBF-1 is needed for maximal expression also for the H3 gene, while is buffered by the sns5 insulator on its interaction with the downstream H1 promoter" class="work-thumbnail" src="https://a.academia-assets.com/images/blank-paper.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" rel="nofollow" href="https://www.academia.edu/116513486/The_sea_urchin_histone_H2A_enhancer_binding_protein_MBF_1_is_needed_for_maximal_expression_also_for_the_H3_gene_while_is_buffered_by_the_sns5_insulator_on_its_interaction_with_the_downstream_H1_promoter">The sea urchin histone H2A enhancer-binding protein MBF-1 is needed for maximal expression also for the H3 gene, while is buffered by the sns5 insulator on its interaction with the downstream H1 promoter</a></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">Enhancers are DNA elements which increase the transcription of associated gene in a position and ...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">Enhancers are DNA elements which increase the transcription of associated gene in a position and distance independent manner relative to the transcription initiation site. Molecular mechanisms must operate to direct enhancers to specific promoters in complex genetic loci. The sea urchin a-histone genes are organized in several hundred tandem repeated units, each containing one copy of the five histone genes in the order 5\u2019-H4-H2B-H3-H2A-H1-3\u2019. Transcription is limited to the early cleavage and reaches its maximum at morula stage. After hatching these genes are repressed and maintained in the silenced state for whole life cycle of the animal. In Paracentrotus lividus, the MBF-1 activator binds to a 30 bp sequence of the H2A modulator, the only cis-acting element of the histone unit for which an enhancer activity has unambiguously demonstrated. Here we assessed the specificity of the MBF-1 factor and the molecular mechanisms that eventually limit its interaction with the adjacent promoters. We find by Chromatin ImmunePrecipitation and in vivo functional studies that the MBF-1 activator binds both the H3 and H2A regulatory sequences, suggesting that this activator is needed for the maximal expression of both genes. In addition, we find that the enhancer blocking activity of the sns5 insulator buffers the downstream H1 promoter from the H2A enhancer bound MBF-1 factor. These results suggest that the block of the H2A enhancer by the sns5 insulator might be the mechanism that regulate the ratio of 2 to 1 of core to linker histones during early development of the sea urchin embryo</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="116513486"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="116513486"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 116513486; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=116513486]").text(description); $(".js-view-count[data-work-id=116513486]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 116513486; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='116513486']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 116513486, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (false){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "-1" } } $('.js-work-strip[data-work-id=116513486]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":116513486,"title":"The sea urchin histone H2A enhancer-binding protein MBF-1 is needed for maximal expression also for the H3 gene, while is buffered by the sns5 insulator on its interaction with the downstream H1 promoter","translated_title":"","metadata":{"abstract":"Enhancers are DNA elements which increase the transcription of associated gene in a position and distance independent manner relative to the transcription initiation site. Molecular mechanisms must operate to direct enhancers to specific promoters in complex genetic loci. The sea urchin a-histone genes are organized in several hundred tandem repeated units, each containing one copy of the five histone genes in the order 5\\u2019-H4-H2B-H3-H2A-H1-3\\u2019. Transcription is limited to the early cleavage and reaches its maximum at morula stage. After hatching these genes are repressed and maintained in the silenced state for whole life cycle of the animal. In Paracentrotus lividus, the MBF-1 activator binds to a 30 bp sequence of the H2A modulator, the only cis-acting element of the histone unit for which an enhancer activity has unambiguously demonstrated. Here we assessed the specificity of the MBF-1 factor and the molecular mechanisms that eventually limit its interaction with the adjacent promoters. We find by Chromatin ImmunePrecipitation and in vivo functional studies that the MBF-1 activator binds both the H3 and H2A regulatory sequences, suggesting that this activator is needed for the maximal expression of both genes. In addition, we find that the enhancer blocking activity of the sns5 insulator buffers the downstream H1 promoter from the H2A enhancer bound MBF-1 factor. These results suggest that the block of the H2A enhancer by the sns5 insulator might be the mechanism that regulate the ratio of 2 to 1 of core to linker histones during early development of the sea urchin embryo","publication_date":{"day":null,"month":null,"year":2009,"errors":{}}},"translated_abstract":"Enhancers are DNA elements which increase the transcription of associated gene in a position and distance independent manner relative to the transcription initiation site. Molecular mechanisms must operate to direct enhancers to specific promoters in complex genetic loci. The sea urchin a-histone genes are organized in several hundred tandem repeated units, each containing one copy of the five histone genes in the order 5\\u2019-H4-H2B-H3-H2A-H1-3\\u2019. Transcription is limited to the early cleavage and reaches its maximum at morula stage. After hatching these genes are repressed and maintained in the silenced state for whole life cycle of the animal. In Paracentrotus lividus, the MBF-1 activator binds to a 30 bp sequence of the H2A modulator, the only cis-acting element of the histone unit for which an enhancer activity has unambiguously demonstrated. Here we assessed the specificity of the MBF-1 factor and the molecular mechanisms that eventually limit its interaction with the adjacent promoters. We find by Chromatin ImmunePrecipitation and in vivo functional studies that the MBF-1 activator binds both the H3 and H2A regulatory sequences, suggesting that this activator is needed for the maximal expression of both genes. In addition, we find that the enhancer blocking activity of the sns5 insulator buffers the downstream H1 promoter from the H2A enhancer bound MBF-1 factor. These results suggest that the block of the H2A enhancer by the sns5 insulator might be the mechanism that regulate the ratio of 2 to 1 of core to linker histones during early development of the sea urchin embryo","internal_url":"https://www.academia.edu/116513486/The_sea_urchin_histone_H2A_enhancer_binding_protein_MBF_1_is_needed_for_maximal_expression_also_for_the_H3_gene_while_is_buffered_by_the_sns5_insulator_on_its_interaction_with_the_downstream_H1_promoter","translated_internal_url":"","created_at":"2024-03-21T07:13:36.664-07:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":37824418,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[],"downloadable_attachments":[],"slug":"The_sea_urchin_histone_H2A_enhancer_binding_protein_MBF_1_is_needed_for_maximal_expression_also_for_the_H3_gene_while_is_buffered_by_the_sns5_insulator_on_its_interaction_with_the_downstream_H1_promoter","translated_slug":"","page_count":null,"language":"en","content_type":"Work","owner":{"id":37824418,"first_name":"Raffaella","middle_initials":null,"last_name":"Melfi","page_name":"RaffaellaMelfi","domain_name":"independent","created_at":"2015-11-07T07:23:52.005-08:00","display_name":"Raffaella Melfi","url":"https://independent.academia.edu/RaffaellaMelfi"},"attachments":[],"research_interests":[{"id":523,"name":"Chemistry","url":"https://www.academia.edu/Documents/in/Chemistry"},{"id":7710,"name":"Biology","url":"https://www.academia.edu/Documents/in/Biology"},{"id":13827,"name":"Cell Biology","url":"https://www.academia.edu/Documents/in/Cell_Biology"},{"id":541820,"name":"Enhancer","url":"https://www.academia.edu/Documents/in/Enhancer"},{"id":560354,"name":"Sea Urchin","url":"https://www.academia.edu/Documents/in/Sea_Urchin"},{"id":910660,"name":"Histone","url":"https://www.academia.edu/Documents/in/Histone"}],"urls":[{"id":40494669,"url":"https://pure.unipa.it/it/publications/the-sea-urchin-histone-h2a-enhancer-binding-protein-mbf-1-is-need-2"}]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="116513485"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" rel="nofollow" href="https://www.academia.edu/116513485/Readthrough_approach_by_NV_translational_readthrough_inducing_drugs_TRIDs_a_study_of_the_possible_off_target_effects_on_natural_termination_codons_NTCs_on_TP53_and_housekeeping_genes_expression"><img alt="Research paper thumbnail of Readthrough approach by NV translational readthrough inducing drugs (TRIDs): a study of the possible off-target effects on natural termination codons (NTCs) on TP53 and housekeeping genes expression" class="work-thumbnail" src="https://a.academia-assets.com/images/blank-paper.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" rel="nofollow" href="https://www.academia.edu/116513485/Readthrough_approach_by_NV_translational_readthrough_inducing_drugs_TRIDs_a_study_of_the_possible_off_target_effects_on_natural_termination_codons_NTCs_on_TP53_and_housekeeping_genes_expression">Readthrough approach by NV translational readthrough inducing drugs (TRIDs): a study of the possible off-target effects on natural termination codons (NTCs) on TP53 and housekeeping genes expression</a></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">Nonsense mutations cause several genetic diseases such as Cystic fibrosis, Duchenne muscular dyst...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">Nonsense mutations cause several genetic diseases such as Cystic fibrosis, Duchenne muscular dystrophy, β-thalassemia, and Shwachman-Diamond syndrome. These mutations induce the formation of a premature termination codon (PTC) inside the mRNA sequence that leads to the aberrant translation, resulting in the synthesis of truncated polypeptides. Nonsense suppression therapy mediated by translational readthrough-inducing drugs (TRIDs) is a promising approach to correct these genetic defects. TRIDs generate a ribosome miscoding of the PTC named “translational readthrough” and restore the synthesis of full-length and potentially functional protein. The new oxadiazole-core TRIDs NV848, NV914, and NV930 showed translational readthrough activity in nonsense-related in vitro systems. In this work, the possible off-target effect of NV molecules on natural termination codons (NTCs) was investigated. Two different in vitro approaches were used to assess if the NV molecules treatment induce NTCs...</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="116513485"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="116513485"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 116513485; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=116513485]").text(description); $(".js-view-count[data-work-id=116513485]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 116513485; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='116513485']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 116513485, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (false){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "-1" } } $('.js-work-strip[data-work-id=116513485]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":116513485,"title":"Readthrough approach by NV translational readthrough inducing drugs (TRIDs): a study of the possible off-target effects on natural termination codons (NTCs) on TP53 and housekeeping genes expression","translated_title":"","metadata":{"abstract":"Nonsense mutations cause several genetic diseases such as Cystic fibrosis, Duchenne muscular dystrophy, β-thalassemia, and Shwachman-Diamond syndrome. These mutations induce the formation of a premature termination codon (PTC) inside the mRNA sequence that leads to the aberrant translation, resulting in the synthesis of truncated polypeptides. Nonsense suppression therapy mediated by translational readthrough-inducing drugs (TRIDs) is a promising approach to correct these genetic defects. TRIDs generate a ribosome miscoding of the PTC named “translational readthrough” and restore the synthesis of full-length and potentially functional protein. The new oxadiazole-core TRIDs NV848, NV914, and NV930 showed translational readthrough activity in nonsense-related in vitro systems. In this work, the possible off-target effect of NV molecules on natural termination codons (NTCs) was investigated. Two different in vitro approaches were used to assess if the NV molecules treatment induce NTCs...","publisher":"MDPI AG"},"translated_abstract":"Nonsense mutations cause several genetic diseases such as Cystic fibrosis, Duchenne muscular dystrophy, β-thalassemia, and Shwachman-Diamond syndrome. These mutations induce the formation of a premature termination codon (PTC) inside the mRNA sequence that leads to the aberrant translation, resulting in the synthesis of truncated polypeptides. Nonsense suppression therapy mediated by translational readthrough-inducing drugs (TRIDs) is a promising approach to correct these genetic defects. TRIDs generate a ribosome miscoding of the PTC named “translational readthrough” and restore the synthesis of full-length and potentially functional protein. The new oxadiazole-core TRIDs NV848, NV914, and NV930 showed translational readthrough activity in nonsense-related in vitro systems. In this work, the possible off-target effect of NV molecules on natural termination codons (NTCs) was investigated. Two different in vitro approaches were used to assess if the NV molecules treatment induce NTCs...","internal_url":"https://www.academia.edu/116513485/Readthrough_approach_by_NV_translational_readthrough_inducing_drugs_TRIDs_a_study_of_the_possible_off_target_effects_on_natural_termination_codons_NTCs_on_TP53_and_housekeeping_genes_expression","translated_internal_url":"","created_at":"2024-03-21T07:13:36.526-07:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":37824418,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[],"downloadable_attachments":[],"slug":"Readthrough_approach_by_NV_translational_readthrough_inducing_drugs_TRIDs_a_study_of_the_possible_off_target_effects_on_natural_termination_codons_NTCs_on_TP53_and_housekeeping_genes_expression","translated_slug":"","page_count":null,"language":"en","content_type":"Work","owner":{"id":37824418,"first_name":"Raffaella","middle_initials":null,"last_name":"Melfi","page_name":"RaffaellaMelfi","domain_name":"independent","created_at":"2015-11-07T07:23:52.005-08:00","display_name":"Raffaella Melfi","url":"https://independent.academia.edu/RaffaellaMelfi"},"attachments":[],"research_interests":[{"id":156,"name":"Genetics","url":"https://www.academia.edu/Documents/in/Genetics"},{"id":7710,"name":"Biology","url":"https://www.academia.edu/Documents/in/Biology"},{"id":181936,"name":"Gene","url":"https://www.academia.edu/Documents/in/Gene"},{"id":1748403,"name":"Nonsense Mutation","url":"https://www.academia.edu/Documents/in/Nonsense_Mutation"},{"id":3458393,"name":"stop codon","url":"https://www.academia.edu/Documents/in/stop_codon"}],"urls":[]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="116513484"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" rel="nofollow" href="https://www.academia.edu/116513484/WS17_01_Novel_approaches_based_on_sequence_specific_RNA_editing_by_ADARs_to_correct_CFTR_nonsense_mutations_causing_cystic_fibrosis"><img alt="Research paper thumbnail of WS17.01 Novel approaches based on sequence-specific RNA editing by ADARs to correct CFTR nonsense mutations causing cystic fibrosis" class="work-thumbnail" src="https://a.academia-assets.com/images/blank-paper.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" rel="nofollow" href="https://www.academia.edu/116513484/WS17_01_Novel_approaches_based_on_sequence_specific_RNA_editing_by_ADARs_to_correct_CFTR_nonsense_mutations_causing_cystic_fibrosis">WS17.01 Novel approaches based on sequence-specific RNA editing by ADARs to correct CFTR nonsense mutations causing cystic fibrosis</a></div><div class="wp-workCard_item"><span>Journal of Cystic Fibrosis</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="116513484"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="116513484"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 116513484; 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$(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="116513411"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" rel="nofollow" href="https://www.academia.edu/116513411/Valutazione_dellazione_readthorough_della_molecola_PTC124_su_sistemi_modello_cellulari_contenenti_mutazioni_non_senso_e_in_cellule_epiteliali_bronchiali_IB3_1_delF508_W1282X_derivate_da_pazienti_affetti_da_fibrosi_cistica"><img alt="Research paper thumbnail of Valutazione dell'azione readthorough della molecola PTC124 su sistemi modello cellulari contenenti mutazioni non senso e in cellule epiteliali bronchiali IB3.1 (delF508/W1282X) derivate da pazienti affetti da fibrosi cistica" class="work-thumbnail" src="https://a.academia-assets.com/images/blank-paper.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" rel="nofollow" href="https://www.academia.edu/116513411/Valutazione_dellazione_readthorough_della_molecola_PTC124_su_sistemi_modello_cellulari_contenenti_mutazioni_non_senso_e_in_cellule_epiteliali_bronchiali_IB3_1_delF508_W1282X_derivate_da_pazienti_affetti_da_fibrosi_cistica">Valutazione dell'azione readthorough della molecola PTC124 su sistemi modello cellulari contenenti mutazioni non senso e in cellule epiteliali bronchiali IB3.1 (delF508/W1282X) derivate da pazienti affetti da fibrosi cistica</a></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">Circa il 10% dei pazienti affetti da fibrosi cistica (FC) presenta nel gene CFTR mutazioni non se...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">Circa il 10% dei pazienti affetti da fibrosi cistica (FC) presenta nel gene CFTR mutazioni non senso (o &#39;stop&#39;: UGA, UAG or UAA, mutazioni di classe I) che bloccano prematuramente la sintesi della proteina. Attualmente non esiste una cura per questo tipo di mutazioni ma si sta cercando di individuare delle molecole che siano in grado di indurre la traduzione di codoni di stop prematuri (readthrough) che, rispetto a molecole gi\ue0 note come il G418, abbiano effetti collaterali ridotti ed una maggiore specificit\ue0 per uno specifico codone. Una piccola molecola che sembra possedere una tale attivit\ue0 \ue8 il PTC124 (Welch, 2007). Ad oggi per\uf2 non c\u2019\ue8 ancora un consenso generale sul meccanismo di azione di questa molecola (stabilizzazione proteica, superamento del codone stop o altri meccanismi) (Welch, 2007; Auld, 2009). Al fine di chiarirlo abbiamo introdotto nel gene codificante la proteina GFP del plasmide pBOS-H2BGFP un codone di stop TGA mediante mutagenesi sito diretta. Cellule HeLa trasfettate con questo vettore e cellule IB3.1 (FC) sono state utilizzate per valutare la capacit\ue0 di indurre readthrough del PTC124</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="116513411"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="116513411"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 116513411; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=116513411]").text(description); $(".js-view-count[data-work-id=116513411]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 116513411; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='116513411']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 116513411, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (false){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "-1" } } $('.js-work-strip[data-work-id=116513411]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":116513411,"title":"Valutazione dell'azione readthorough della molecola PTC124 su sistemi modello cellulari contenenti mutazioni non senso e in cellule epiteliali bronchiali IB3.1 (delF508/W1282X) derivate da pazienti affetti da fibrosi cistica","translated_title":"","metadata":{"abstract":"Circa il 10% dei pazienti affetti da fibrosi cistica (FC) presenta nel gene CFTR mutazioni non senso (o \u0026#39;stop\u0026#39;: UGA, UAG or UAA, mutazioni di classe I) che bloccano prematuramente la sintesi della proteina. Attualmente non esiste una cura per questo tipo di mutazioni ma si sta cercando di individuare delle molecole che siano in grado di indurre la traduzione di codoni di stop prematuri (readthrough) che, rispetto a molecole gi\\ue0 note come il G418, abbiano effetti collaterali ridotti ed una maggiore specificit\\ue0 per uno specifico codone. Una piccola molecola che sembra possedere una tale attivit\\ue0 \\ue8 il PTC124 (Welch, 2007). Ad oggi per\\uf2 non c\\u2019\\ue8 ancora un consenso generale sul meccanismo di azione di questa molecola (stabilizzazione proteica, superamento del codone stop o altri meccanismi) (Welch, 2007; Auld, 2009). Al fine di chiarirlo abbiamo introdotto nel gene codificante la proteina GFP del plasmide pBOS-H2BGFP un codone di stop TGA mediante mutagenesi sito diretta. Cellule HeLa trasfettate con questo vettore e cellule IB3.1 (FC) sono state utilizzate per valutare la capacit\\ue0 di indurre readthrough del PTC124","publication_date":{"day":null,"month":null,"year":2013,"errors":{}}},"translated_abstract":"Circa il 10% dei pazienti affetti da fibrosi cistica (FC) presenta nel gene CFTR mutazioni non senso (o \u0026#39;stop\u0026#39;: UGA, UAG or UAA, mutazioni di classe I) che bloccano prematuramente la sintesi della proteina. Attualmente non esiste una cura per questo tipo di mutazioni ma si sta cercando di individuare delle molecole che siano in grado di indurre la traduzione di codoni di stop prematuri (readthrough) che, rispetto a molecole gi\\ue0 note come il G418, abbiano effetti collaterali ridotti ed una maggiore specificit\\ue0 per uno specifico codone. Una piccola molecola che sembra possedere una tale attivit\\ue0 \\ue8 il PTC124 (Welch, 2007). 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Cellule HeLa trasfettate con questo vettore e cellule IB3.1 (FC) sono state utilizzate per valutare la capacit\\ue0 di indurre readthrough del PTC124","internal_url":"https://www.academia.edu/116513411/Valutazione_dellazione_readthorough_della_molecola_PTC124_su_sistemi_modello_cellulari_contenenti_mutazioni_non_senso_e_in_cellule_epiteliali_bronchiali_IB3_1_delF508_W1282X_derivate_da_pazienti_affetti_da_fibrosi_cistica","translated_internal_url":"","created_at":"2024-03-21T07:12:39.550-07:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":37824418,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[],"downloadable_attachments":[],"slug":"Valutazione_dellazione_readthorough_della_molecola_PTC124_su_sistemi_modello_cellulari_contenenti_mutazioni_non_senso_e_in_cellule_epiteliali_bronchiali_IB3_1_delF508_W1282X_derivate_da_pazienti_affetti_da_fibrosi_cistica","translated_slug":"","page_count":null,"language":"it","content_type":"Work","owner":{"id":37824418,"first_name":"Raffaella","middle_initials":null,"last_name":"Melfi","page_name":"RaffaellaMelfi","domain_name":"independent","created_at":"2015-11-07T07:23:52.005-08:00","display_name":"Raffaella Melfi","url":"https://independent.academia.edu/RaffaellaMelfi"},"attachments":[],"research_interests":[{"id":26327,"name":"Medicine","url":"https://www.academia.edu/Documents/in/Medicine"}],"urls":[{"id":40494615,"url":"https://pure.unipa.it/it/publications/valutazione-dellazione-readthorough-della-molecola-ptc124-su-sist-2"}]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="107630486"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" rel="nofollow" href="https://www.academia.edu/107630486/Identification_of_a_new_molecule_with_readthrough_activity_to_rescue_CFTR_protein_function"><img alt="Research paper thumbnail of Identification of a new molecule with readthrough activity to rescue CFTR protein function" class="work-thumbnail" src="https://a.academia-assets.com/images/blank-paper.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" rel="nofollow" href="https://www.academia.edu/107630486/Identification_of_a_new_molecule_with_readthrough_activity_to_rescue_CFTR_protein_function">Identification of a new molecule with readthrough activity to rescue CFTR protein function</a></div><div class="wp-workCard_item"><span>Biotecnologie Ricerca di Base Interdisciplinare Traslazionale in ambito Biomedico 2018</span><span>, 2018</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">In Cystic fibrosis (CF) disease nonsense mutations in the CFTR gene cause absence of the CFTR pro...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">In Cystic fibrosis (CF) disease nonsense mutations in the CFTR gene cause absence of the CFTR protein expression and a more severe form of the disease. About 10% of patient affected by CF show a nonsense mutation. A potential treatment of this alteration is to promote translational readthrough of premature termination codons (PTCs) by translational readthrough inducing drugs such as Ataluren. In this context we aimed to compare the 1,2,4-oxadiazole core of Ataluren with a slightly different scaffold, the 1,3,4oxadiazole core. By a validated protocol consisting of computational screening, synthesis and biological tests we identified, a new small molecule with 1,3,4-oxadiazole core (2a/NV2445) showing high readthrough activity. Moreover, we evaluated quantitatively the CFTR functionality after 2a/NV2445 treatment in CF model systems and in cells expressing a nonsense-CFTR-mRNA. Finally, we studied the supramolecular interactions among readthrough inducing drugs and CFTR mRNA to assess the biological target/mechanism and further we used the QikProp program to compare the ADME properties of 2a/NV2445 and Ataluren</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="107630486"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="107630486"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 107630486; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=107630486]").text(description); $(".js-view-count[data-work-id=107630486]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 107630486; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='107630486']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 107630486, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (false){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "-1" } } $('.js-work-strip[data-work-id=107630486]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":107630486,"title":"Identification of a new molecule with readthrough activity to rescue CFTR protein function","translated_title":"","metadata":{"abstract":"In Cystic fibrosis (CF) disease nonsense mutations in the CFTR gene cause absence of the CFTR protein expression and a more severe form of the disease. About 10% of patient affected by CF show a nonsense mutation. A potential treatment of this alteration is to promote translational readthrough of premature termination codons (PTCs) by translational readthrough inducing drugs such as Ataluren. In this context we aimed to compare the 1,2,4-oxadiazole core of Ataluren with a slightly different scaffold, the 1,3,4oxadiazole core. By a validated protocol consisting of computational screening, synthesis and biological tests we identified, a new small molecule with 1,3,4-oxadiazole core (2a/NV2445) showing high readthrough activity. Moreover, we evaluated quantitatively the CFTR functionality after 2a/NV2445 treatment in CF model systems and in cells expressing a nonsense-CFTR-mRNA. 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By a validated protocol consisting of computational screening, synthesis and biological tests we identified, a new small molecule with 1,3,4-oxadiazole core (2a/NV2445) showing high readthrough activity. Moreover, we evaluated quantitatively the CFTR functionality after 2a/NV2445 treatment in CF model systems and in cells expressing a nonsense-CFTR-mRNA. 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$(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="107629977"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/107629977/Investigating_CRISPR_CAS13b_as_a_tool_for_the_RNA_editing_of_CFTR_mRNA_with_premature_stop_codon"><img alt="Research paper thumbnail of Investigating CRISPR-CAS13b as a tool for the RNA editing of CFTR mRNA with premature stop codon" class="work-thumbnail" src="https://attachments.academia-assets.com/106242638/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/107629977/Investigating_CRISPR_CAS13b_as_a_tool_for_the_RNA_editing_of_CFTR_mRNA_with_premature_stop_codon">Investigating CRISPR-CAS13b as a tool for the RNA editing of CFTR mRNA with premature stop codon</a></div><div class="wp-workCard_item"><span>PROCEEDINGS OF THE 17th ITALIAN CONVENTION OF FFC INVESTIGATORS IN CYSTIC FIBROSIS</span><span>, 2020</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="8e3e89b237379c706e76279c15c52269" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":106242638,"asset_id":107629977,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/106242638/download_file?st=MTczMzM0MDI1Niw4LjIyMi4yMDguMTQ2&s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="107629977"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="107629977"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 107629977; 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$(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="104688110"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/104688110/Site_Specific_RNA_Editing_of_Stop_Mutations_in_the_CFTR_mRNA_of_Human_Bronchial_Cultured_Cells"><img alt="Research paper thumbnail of Site-Specific RNA Editing of Stop Mutations in the CFTR mRNA of Human Bronchial Cultured Cells" class="work-thumbnail" src="https://attachments.academia-assets.com/104350055/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/104688110/Site_Specific_RNA_Editing_of_Stop_Mutations_in_the_CFTR_mRNA_of_Human_Bronchial_Cultured_Cells">Site-Specific RNA Editing of Stop Mutations in the CFTR mRNA of Human Bronchial Cultured Cells</a></div><div class="wp-workCard_item"><span>International Journal of Molecular Sciences</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">It is reported that about 10% of cystic fibrosis (CF) patients worldwide have nonsense (stop) mut...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">It is reported that about 10% of cystic fibrosis (CF) patients worldwide have nonsense (stop) mutations in the CFTR gene, which cause the premature termination of CFTR protein synthesis, leading to a truncated and non-functional protein. To address this issue, we investigated the possibility of rescuing the CFTR nonsense mutation (UGA) by sequence-specific RNA editing in CFTR mutant CFF-16HBEge, W1282X, and G542X human bronchial cells. We used two different base editor tools that take advantage of ADAR enzymes (adenosine deaminase acting on RNA) to edit adenosine to inosine (A-to-I) within the mRNA: the REPAIRv2 (RNA Editing for Programmable A to I Replacement, version 2) and the minixABE (A to I Base Editor). Immunofluorescence experiments show that both approaches were able to recover the CFTR protein in the CFTR mutant cells. In addition, RT-qPCR confirmed the rescue of the CFTR full transcript. These findings suggest that site-specific RNA editing may efficiently correct the UGA...</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="72e31dab0aa71dff90c1d4faf91c5d7c" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":104350055,"asset_id":104688110,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/104350055/download_file?st=MTczMzM0MDI1Niw4LjIyMi4yMDguMTQ2&s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="104688110"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="104688110"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 104688110; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=104688110]").text(description); $(".js-view-count[data-work-id=104688110]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 104688110; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='104688110']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 104688110, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (true){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "72e31dab0aa71dff90c1d4faf91c5d7c" } } $('.js-work-strip[data-work-id=104688110]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":104688110,"title":"Site-Specific RNA Editing of Stop Mutations in the CFTR mRNA of Human Bronchial Cultured Cells","translated_title":"","metadata":{"abstract":"It is reported that about 10% of cystic fibrosis (CF) patients worldwide have nonsense (stop) mutations in the CFTR gene, which cause the premature termination of CFTR protein synthesis, leading to a truncated and non-functional protein. To address this issue, we investigated the possibility of rescuing the CFTR nonsense mutation (UGA) by sequence-specific RNA editing in CFTR mutant CFF-16HBEge, W1282X, and G542X human bronchial cells. We used two different base editor tools that take advantage of ADAR enzymes (adenosine deaminase acting on RNA) to edit adenosine to inosine (A-to-I) within the mRNA: the REPAIRv2 (RNA Editing for Programmable A to I Replacement, version 2) and the minixABE (A to I Base Editor). Immunofluorescence experiments show that both approaches were able to recover the CFTR protein in the CFTR mutant cells. In addition, RT-qPCR confirmed the rescue of the CFTR full transcript. These findings suggest that site-specific RNA editing may efficiently correct the UGA...","publisher":"MDPI AG","publication_name":"International Journal of Molecular Sciences"},"translated_abstract":"It is reported that about 10% of cystic fibrosis (CF) patients worldwide have nonsense (stop) mutations in the CFTR gene, which cause the premature termination of CFTR protein synthesis, leading to a truncated and non-functional protein. To address this issue, we investigated the possibility of rescuing the CFTR nonsense mutation (UGA) by sequence-specific RNA editing in CFTR mutant CFF-16HBEge, W1282X, and G542X human bronchial cells. We used two different base editor tools that take advantage of ADAR enzymes (adenosine deaminase acting on RNA) to edit adenosine to inosine (A-to-I) within the mRNA: the REPAIRv2 (RNA Editing for Programmable A to I Replacement, version 2) and the minixABE (A to I Base Editor). Immunofluorescence experiments show that both approaches were able to recover the CFTR protein in the CFTR mutant cells. In addition, RT-qPCR confirmed the rescue of the CFTR full transcript. 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$(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="104688097"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/104688097/Investigating_the_Inhibition_of_FTSJ1_a_Tryptophan_tRNA_Specific_2_O_Methyltransferase_by_NV_TRIDs_as_a_Mechanism_of_Readthrough_in_Nonsense_Mutated_CFTR"><img alt="Research paper thumbnail of Investigating the Inhibition of FTSJ1 a Tryptophan tRNA-Specific 2′-O-Methyltransferase by NV TRIDs, as a Mechanism of Readthrough in Nonsense Mutated CFTR" class="work-thumbnail" src="https://attachments.academia-assets.com/104350071/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/104688097/Investigating_the_Inhibition_of_FTSJ1_a_Tryptophan_tRNA_Specific_2_O_Methyltransferase_by_NV_TRIDs_as_a_Mechanism_of_Readthrough_in_Nonsense_Mutated_CFTR">Investigating the Inhibition of FTSJ1 a Tryptophan tRNA-Specific 2′-O-Methyltransferase by NV TRIDs, as a Mechanism of Readthrough in Nonsense Mutated CFTR</a></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">Cystic Fibrosis (CF) is an autosomal recessive genetic disease caused by mutations in the CFTR ge...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">Cystic Fibrosis (CF) is an autosomal recessive genetic disease caused by mutations in the CFTR gene, coding for the CFTR chloride channel. About 10% of the CFTR gene mutations are &quot;stop&quot; mutations, which generate a Premature Termination Codon (PTC), thus synthesizing a truncated CFTR protein. A way to bypass PTC relies on ribosome readthrough, which is the ribosome’s capacity to skip a PTC, thus generating a full-length protein. “TRIDs” are molecules exerting ribosome readthrough; for some, the mechanism of action is still under debate. We investigate a possible mechanism of action (MOA) by which our recently synthesized TRIDs, namely NV848, NV914, and NV930, could exert their readthrough activity by in silico analysis and in vitro studies. Our results suggest a likely inhibition of FTSJ1, a tryptophan tRNA-specific 2’-O-methyltransferase.</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="480662024445237b116e0c47a029efb7" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":104350071,"asset_id":104688097,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/104350071/download_file?st=MTczMzM0MDI1Niw4LjIyMi4yMDguMTQ2&s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="104688097"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="104688097"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 104688097; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=104688097]").text(description); $(".js-view-count[data-work-id=104688097]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 104688097; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='104688097']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 104688097, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (true){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "480662024445237b116e0c47a029efb7" } } $('.js-work-strip[data-work-id=104688097]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":104688097,"title":"Investigating the Inhibition of FTSJ1 a Tryptophan tRNA-Specific 2′-O-Methyltransferase by NV TRIDs, as a Mechanism of Readthrough in Nonsense Mutated CFTR","translated_title":"","metadata":{"abstract":"Cystic Fibrosis (CF) is an autosomal recessive genetic disease caused by mutations in the CFTR gene, coding for the CFTR chloride channel. About 10% of the CFTR gene mutations are \u0026quot;stop\u0026quot; mutations, which generate a Premature Termination Codon (PTC), thus synthesizing a truncated CFTR protein. A way to bypass PTC relies on ribosome readthrough, which is the ribosome’s capacity to skip a PTC, thus generating a full-length protein. “TRIDs” are molecules exerting ribosome readthrough; for some, the mechanism of action is still under debate. We investigate a possible mechanism of action (MOA) by which our recently synthesized TRIDs, namely NV848, NV914, and NV930, could exert their readthrough activity by in silico analysis and in vitro studies. Our results suggest a likely inhibition of FTSJ1, a tryptophan tRNA-specific 2’-O-methyltransferase.","publisher":"MDPI AG"},"translated_abstract":"Cystic Fibrosis (CF) is an autosomal recessive genetic disease caused by mutations in the CFTR gene, coding for the CFTR chloride channel. About 10% of the CFTR gene mutations are \u0026quot;stop\u0026quot; mutations, which generate a Premature Termination Codon (PTC), thus synthesizing a truncated CFTR protein. A way to bypass PTC relies on ribosome readthrough, which is the ribosome’s capacity to skip a PTC, thus generating a full-length protein. “TRIDs” are molecules exerting ribosome readthrough; for some, the mechanism of action is still under debate. We investigate a possible mechanism of action (MOA) by which our recently synthesized TRIDs, namely NV848, NV914, and NV930, could exert their readthrough activity by in silico analysis and in vitro studies. Our results suggest a likely inhibition of FTSJ1, a tryptophan tRNA-specific 2’-O-methyltransferase.","internal_url":"https://www.academia.edu/104688097/Investigating_the_Inhibition_of_FTSJ1_a_Tryptophan_tRNA_Specific_2_O_Methyltransferase_by_NV_TRIDs_as_a_Mechanism_of_Readthrough_in_Nonsense_Mutated_CFTR","translated_internal_url":"","created_at":"2023-07-18T04:46:50.735-07:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":37824418,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[],"downloadable_attachments":[{"id":104350071,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/104350071/thumbnails/1.jpg","file_name":"pdf.pdf","download_url":"https://www.academia.edu/attachments/104350071/download_file?st=MTczMzM0MDI1Niw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"Investigating_the_Inhibition_of_FTSJ1_a.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/104350071/pdf-libre.pdf?1689683790=\u0026response-content-disposition=attachment%3B+filename%3DInvestigating_the_Inhibition_of_FTSJ1_a.pdf\u0026Expires=1733328419\u0026Signature=YMth53LP9EXhicEJHeKuatwEKg4Wxzawulrh7HU62IDtI0zdGrXdzEPEG3~IkdfGBWTqZgNIZPFVkEOMYYZLxLFwT00BKpQxUw-D8oYcXSXJ-bfJsAExZwOyeuV1R913NGW~BlZ2BpEKgiMSnifufMCwzmqKdk9yyMUdUEoMcCPtV6G6KNv1I~xfbEDJu4Ry2UXNGyoK3o89Sxbu2foYcr3KhoMh4AuZGu~nEE6VyIu8pRoyQihgbpAUKIj1-Z-~WTRXC4kKjHbWKdjPhvkgqY-at~e~iTfM7SsoEOnQ55IxyiXfAxo-bok1molPAC8vGmsAYD3DBtGGr-uroNEKxg__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"slug":"Investigating_the_Inhibition_of_FTSJ1_a_Tryptophan_tRNA_Specific_2_O_Methyltransferase_by_NV_TRIDs_as_a_Mechanism_of_Readthrough_in_Nonsense_Mutated_CFTR","translated_slug":"","page_count":19,"language":"en","content_type":"Work","owner":{"id":37824418,"first_name":"Raffaella","middle_initials":null,"last_name":"Melfi","page_name":"RaffaellaMelfi","domain_name":"independent","created_at":"2015-11-07T07:23:52.005-08:00","display_name":"Raffaella Melfi","url":"https://independent.academia.edu/RaffaellaMelfi"},"attachments":[{"id":104350071,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/104350071/thumbnails/1.jpg","file_name":"pdf.pdf","download_url":"https://www.academia.edu/attachments/104350071/download_file?st=MTczMzM0MDI1Niw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"Investigating_the_Inhibition_of_FTSJ1_a.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/104350071/pdf-libre.pdf?1689683790=\u0026response-content-disposition=attachment%3B+filename%3DInvestigating_the_Inhibition_of_FTSJ1_a.pdf\u0026Expires=1733328419\u0026Signature=YMth53LP9EXhicEJHeKuatwEKg4Wxzawulrh7HU62IDtI0zdGrXdzEPEG3~IkdfGBWTqZgNIZPFVkEOMYYZLxLFwT00BKpQxUw-D8oYcXSXJ-bfJsAExZwOyeuV1R913NGW~BlZ2BpEKgiMSnifufMCwzmqKdk9yyMUdUEoMcCPtV6G6KNv1I~xfbEDJu4Ry2UXNGyoK3o89Sxbu2foYcr3KhoMh4AuZGu~nEE6VyIu8pRoyQihgbpAUKIj1-Z-~WTRXC4kKjHbWKdjPhvkgqY-at~e~iTfM7SsoEOnQ55IxyiXfAxo-bok1molPAC8vGmsAYD3DBtGGr-uroNEKxg__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"research_interests":[{"id":156,"name":"Genetics","url":"https://www.academia.edu/Documents/in/Genetics"},{"id":181936,"name":"Gene","url":"https://www.academia.edu/Documents/in/Gene"},{"id":219562,"name":"Ribosome","url":"https://www.academia.edu/Documents/in/Ribosome"},{"id":276821,"name":"Molecular sciences","url":"https://www.academia.edu/Documents/in/Molecular_sciences"},{"id":1748403,"name":"Nonsense Mutation","url":"https://www.academia.edu/Documents/in/Nonsense_Mutation"},{"id":3458393,"name":"stop codon","url":"https://www.academia.edu/Documents/in/stop_codon"},{"id":4181301,"name":"Transfer-RNA","url":"https://www.academia.edu/Documents/in/Transfer_RNA"}],"urls":[]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="101104689"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/101104689/Preliminary_genetic_characterisation_of_Southern_Smooth_Snake_Coronella_girondica_Serpentes_Colubridae_populations_in_Italy_with_some_considerations_on_their_alpine_distribution"><img alt="Research paper thumbnail of Preliminary genetic characterisation of Southern Smooth Snake Coronella girondica (Serpentes, Colubridae) populations in Italy, with some considerations on their alpine distribution" class="work-thumbnail" src="https://attachments.academia-assets.com/101736432/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/101104689/Preliminary_genetic_characterisation_of_Southern_Smooth_Snake_Coronella_girondica_Serpentes_Colubridae_populations_in_Italy_with_some_considerations_on_their_alpine_distribution">Preliminary genetic characterisation of Southern Smooth Snake Coronella girondica (Serpentes, Colubridae) populations in Italy, with some considerations on their alpine distribution</a></div><div class="wp-workCard_item"><span>Acta Herpetologica</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">The Southern smooth snake, Coronella girondica, is a small-sized colubrid found in Northwest Afri...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">The Southern smooth snake, Coronella girondica, is a small-sized colubrid found in Northwest Africa and Southwest Europe. Mitochondrial DNA-based studies showed that the species can be split into five clades: two from Northwest Africa (one Moroccan and one Tunisian-Algerian) and three from Europe (one in the south-west of the Iberian Peninsula, one in the south-east of Spain and one in the rest of the European range). With regards to Italy, to date, only two samples have been analysed both from the Province of Pisa, Tuscany, pointing at that fact that genetic characterisation of Italian populations is still lacking. Accordingly, we have increased the sampling coverage with 19 new samples from northern and central regions of Italy, including two populations, apparently disconnected from the rest of the known range, and analysed their phylogenetic relationships using a portion of the mitochondrial cytochrome b gene. Our results confirm the general phylogenetic arrangement detected in ...</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="67686525170f05f9d4e9ebc5c2143d11" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":101736432,"asset_id":101104689,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/101736432/download_file?st=MTczMzM0MDI1Niw4LjIyMi4yMDguMTQ2&s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="101104689"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="101104689"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 101104689; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=101104689]").text(description); $(".js-view-count[data-work-id=101104689]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 101104689; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='101104689']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 101104689, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (true){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "67686525170f05f9d4e9ebc5c2143d11" } } $('.js-work-strip[data-work-id=101104689]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":101104689,"title":"Preliminary genetic characterisation of Southern Smooth Snake Coronella girondica (Serpentes, Colubridae) populations in Italy, with some considerations on their alpine distribution","translated_title":"","metadata":{"abstract":"The Southern smooth snake, Coronella girondica, is a small-sized colubrid found in Northwest Africa and Southwest Europe. Mitochondrial DNA-based studies showed that the species can be split into five clades: two from Northwest Africa (one Moroccan and one Tunisian-Algerian) and three from Europe (one in the south-west of the Iberian Peninsula, one in the south-east of Spain and one in the rest of the European range). With regards to Italy, to date, only two samples have been analysed both from the Province of Pisa, Tuscany, pointing at that fact that genetic characterisation of Italian populations is still lacking. Accordingly, we have increased the sampling coverage with 19 new samples from northern and central regions of Italy, including two populations, apparently disconnected from the rest of the known range, and analysed their phylogenetic relationships using a portion of the mitochondrial cytochrome b gene. Our results confirm the general phylogenetic arrangement detected in ...","publisher":"Firenze University Press","publication_name":"Acta Herpetologica"},"translated_abstract":"The Southern smooth snake, Coronella girondica, is a small-sized colubrid found in Northwest Africa and Southwest Europe. Mitochondrial DNA-based studies showed that the species can be split into five clades: two from Northwest Africa (one Moroccan and one Tunisian-Algerian) and three from Europe (one in the south-west of the Iberian Peninsula, one in the south-east of Spain and one in the rest of the European range). With regards to Italy, to date, only two samples have been analysed both from the Province of Pisa, Tuscany, pointing at that fact that genetic characterisation of Italian populations is still lacking. Accordingly, we have increased the sampling coverage with 19 new samples from northern and central regions of Italy, including two populations, apparently disconnected from the rest of the known range, and analysed their phylogenetic relationships using a portion of the mitochondrial cytochrome b gene. Our results confirm the general phylogenetic arrangement detected in ...","internal_url":"https://www.academia.edu/101104689/Preliminary_genetic_characterisation_of_Southern_Smooth_Snake_Coronella_girondica_Serpentes_Colubridae_populations_in_Italy_with_some_considerations_on_their_alpine_distribution","translated_internal_url":"","created_at":"2023-05-02T03:55:15.264-07:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":37824418,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[],"downloadable_attachments":[{"id":101736432,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/101736432/thumbnails/1.jpg","file_name":"11426.pdf","download_url":"https://www.academia.edu/attachments/101736432/download_file?st=MTczMzM0MDI1Niw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"Preliminary_genetic_characterisation_of.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/101736432/11426-libre.pdf?1683026987=\u0026response-content-disposition=attachment%3B+filename%3DPreliminary_genetic_characterisation_of.pdf\u0026Expires=1733328419\u0026Signature=DzKZ0ugeXIWVlmIKHFuutsv9xUMIpUWI~Lsu3gCzr-bzyhcb7cJj5zZuA6BHUIKmf9K4GoFeh9qfhx0bPv508r7~4Kkx8qXy64Ynvb3gnRtHQWyFubHK0TS6XYuemtLkewgxx6qjDiypeBM99rRHMYz4FKPQP6X8OuFKkyvR6eM3uj-yJwxlTu3evl4kpsmLKoMoHLfkVfWMEDM-41SII9zqNBrFJou~yFwAPMl9K4~CPvT1FbTnesHK-Mgd8oX~Ks4x8TIjtLA049ii9AltKeOuwrAfJsdREmQnWHJSAPihTNUqwBzcDizgma6X8ayhhhvF2rGeQ6xBj-JEVSkYNQ__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"slug":"Preliminary_genetic_characterisation_of_Southern_Smooth_Snake_Coronella_girondica_Serpentes_Colubridae_populations_in_Italy_with_some_considerations_on_their_alpine_distribution","translated_slug":"","page_count":10,"language":"en","content_type":"Work","owner":{"id":37824418,"first_name":"Raffaella","middle_initials":null,"last_name":"Melfi","page_name":"RaffaellaMelfi","domain_name":"independent","created_at":"2015-11-07T07:23:52.005-08:00","display_name":"Raffaella Melfi","url":"https://independent.academia.edu/RaffaellaMelfi"},"attachments":[{"id":101736432,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/101736432/thumbnails/1.jpg","file_name":"11426.pdf","download_url":"https://www.academia.edu/attachments/101736432/download_file?st=MTczMzM0MDI1Niw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"Preliminary_genetic_characterisation_of.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/101736432/11426-libre.pdf?1683026987=\u0026response-content-disposition=attachment%3B+filename%3DPreliminary_genetic_characterisation_of.pdf\u0026Expires=1733328419\u0026Signature=DzKZ0ugeXIWVlmIKHFuutsv9xUMIpUWI~Lsu3gCzr-bzyhcb7cJj5zZuA6BHUIKmf9K4GoFeh9qfhx0bPv508r7~4Kkx8qXy64Ynvb3gnRtHQWyFubHK0TS6XYuemtLkewgxx6qjDiypeBM99rRHMYz4FKPQP6X8OuFKkyvR6eM3uj-yJwxlTu3evl4kpsmLKoMoHLfkVfWMEDM-41SII9zqNBrFJou~yFwAPMl9K4~CPvT1FbTnesHK-Mgd8oX~Ks4x8TIjtLA049ii9AltKeOuwrAfJsdREmQnWHJSAPihTNUqwBzcDizgma6X8ayhhhvF2rGeQ6xBj-JEVSkYNQ__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"},{"id":101736433,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/101736433/thumbnails/1.jpg","file_name":"11426.pdf","download_url":"https://www.academia.edu/attachments/101736433/download_file","bulk_download_file_name":"Preliminary_genetic_characterisation_of.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/101736433/11426-libre.pdf?1683026988=\u0026response-content-disposition=attachment%3B+filename%3DPreliminary_genetic_characterisation_of.pdf\u0026Expires=1733328419\u0026Signature=feVidwSQy9MfOOwjhK5g3RuK~kIkkMIURmnTPxTvXQ6cRf4N1CUq45fzYAeZv0MJEkacLcwKOIU9gr-IY-bQ9XLpHw~qKINRcaZCUA42QQX0B3C~siqr6MpEMIYSVSlZi3ttGnR4lczKelnEbH1ez5Fd00pfM4iNpFVw~332OBznM7HO3nIh4ZMJv3wdgPmbtJ8YNRLoYy6mDCeqCuSZdSe-HdwspBBbOkqYofLLcIcC8z8wQaPoABRVJs-0XWn3GA9nyoYZBbXX-CkrpcWmzCPsb3qYoFHA~JcYFUiehbZhi05lGbozWadsshUmIxbnqEcry9CAAA6aNCs~~eiipA__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"research_interests":[{"id":261,"name":"Geography","url":"https://www.academia.edu/Documents/in/Geography"},{"id":4206,"name":"Phylogeography","url":"https://www.academia.edu/Documents/in/Phylogeography"},{"id":9846,"name":"Ecology","url":"https://www.academia.edu/Documents/in/Ecology"},{"id":3372233,"name":"peninsula","url":"https://www.academia.edu/Documents/in/peninsula"}],"urls":[{"id":31095361,"url":"https://oaj.fupress.net/index.php/ah/article/download/12556/11426"}]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="101104688"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/101104688/Controlled_uptake_of_PFOA_in_adult_specimens_of_Paracentrotus_lividus_and_evaluation_of_gene_expression_in_their_gonads_and_embryos"><img alt="Research paper thumbnail of Controlled uptake of PFOA in adult specimens of Paracentrotus lividus and evaluation of gene expression in their gonads and embryos" class="work-thumbnail" src="https://attachments.academia-assets.com/101736430/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/101104688/Controlled_uptake_of_PFOA_in_adult_specimens_of_Paracentrotus_lividus_and_evaluation_of_gene_expression_in_their_gonads_and_embryos">Controlled uptake of PFOA in adult specimens of Paracentrotus lividus and evaluation of gene expression in their gonads and embryos</a></div><div class="wp-workCard_item"><span>Environmental Science and Pollution Research</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">Perfluorooctanoic acid (PFOA) has been largely used in the manufacturing industry but a few years...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">Perfluorooctanoic acid (PFOA) has been largely used in the manufacturing industry but a few years ago it turned out to be a dangerous pollutant which is now of concern for terrestrial and aquatic environments. Here, we investigated the bioaccumulation of PFOA in the sea urchin Paracentrotus lividus after exposure to different concentrations of the pollutant for 28 days. We observed rapid uptake of PFOA in the coelomic fluid collected weekly during the exposure period and high bioaccumulation in gonads at the end of the experiment. Interestingly, animals were also able to fast depurate when relocated to a clean environment. In addition, to assess the effect of PFOA on sea urchins’ physiological pathways, we analysed the expression profile of some marker genes both in the gonads and in the embryos obtained from parents exposed to PFOA. Our results suggest that PFOA is a persistent, bioaccumulative compound that adversely affects the health of the exposed organisms and their offspring ...</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="a35f84ffb673b5ff244c314750fbdf77" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":101736430,"asset_id":101104688,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/101736430/download_file?st=MTczMzM0MDI1Niw4LjIyMi4yMDguMTQ2&s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="101104688"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="101104688"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 101104688; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=101104688]").text(description); $(".js-view-count[data-work-id=101104688]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 101104688; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='101104688']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 101104688, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (true){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "a35f84ffb673b5ff244c314750fbdf77" } } $('.js-work-strip[data-work-id=101104688]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":101104688,"title":"Controlled uptake of PFOA in adult specimens of Paracentrotus lividus and evaluation of gene expression in their gonads and embryos","translated_title":"","metadata":{"abstract":"Perfluorooctanoic acid (PFOA) has been largely used in the manufacturing industry but a few years ago it turned out to be a dangerous pollutant which is now of concern for terrestrial and aquatic environments. 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Our results suggest that PFOA is a persistent, bioaccumulative compound that adversely affects the health of the exposed organisms and their offspring ...","publisher":"Springer Science and Business Media LLC","publication_name":"Environmental Science and Pollution Research"},"translated_abstract":"Perfluorooctanoic acid (PFOA) has been largely used in the manufacturing industry but a few years ago it turned out to be a dangerous pollutant which is now of concern for terrestrial and aquatic environments. Here, we investigated the bioaccumulation of PFOA in the sea urchin Paracentrotus lividus after exposure to different concentrations of the pollutant for 28 days. We observed rapid uptake of PFOA in the coelomic fluid collected weekly during the exposure period and high bioaccumulation in gonads at the end of the experiment. Interestingly, animals were also able to fast depurate when relocated to a clean environment. 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PNAS USA, 91, 12322-6 5. Di Caro, D, Melfi, R, Alessandro, C, Serio, G, Di Caro, V, Cavalieri...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">... PNAS USA, 91, 12322-6 5. Di Caro, D, Melfi, R, Alessandro, C, Serio, G, Di Caro, V, Cavalieri, V, Palla, F, Spinelli, G (2004). J Mol Biol, 342, 1367-77 6. D&amp;#x27;Apolito, D, Baiamonte, E, Bagliesi, M, Di Marzo, R, Calzolari, R, Ferro, L, Franco, V, Spinelli, G, Maggio, A, Acuto, S (2009). ...</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="101104607"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="101104607"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 101104607; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=101104607]").text(description); $(".js-view-count[data-work-id=101104607]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 101104607; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='101104607']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 101104607, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (false){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "-1" } } $('.js-work-strip[data-work-id=101104607]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":101104607,"title":"Enhancer, chromatin insulator, non-coding RNA and α-histone gene expression during embryogenesis of the sea urchin Paracentrotus lividus","translated_title":"","metadata":{"abstract":"... PNAS USA, 91, 12322-6 5. Di Caro, D, Melfi, R, Alessandro, C, Serio, G, Di Caro, V, Cavalieri, V, Palla, F, Spinelli, G (2004). J Mol Biol, 342, 1367-77 6. D\u0026amp;#x27;Apolito, D, Baiamonte, E, Bagliesi, M, Di Marzo, R, Calzolari, R, Ferro, L, Franco, V, Spinelli, G, Maggio, A, Acuto, S (2009). ...","publisher":"unipa.it","publication_date":{"day":null,"month":null,"year":2009,"errors":{}},"publication_name":"VII Congresso Nazionale del …"},"translated_abstract":"... PNAS USA, 91, 12322-6 5. Di Caro, D, Melfi, R, Alessandro, C, Serio, G, Di Caro, V, Cavalieri, V, Palla, F, Spinelli, G (2004). J Mol Biol, 342, 1367-77 6. D\u0026amp;#x27;Apolito, D, Baiamonte, E, Bagliesi, M, Di Marzo, R, Calzolari, R, Ferro, L, Franco, V, Spinelli, G, Maggio, A, Acuto, S (2009). ...","internal_url":"https://www.academia.edu/101104607/Enhancer_chromatin_insulator_non_coding_RNA_and_%CE%B1_histone_gene_expression_during_embryogenesis_of_the_sea_urchin_Paracentrotus_lividus","translated_internal_url":"","created_at":"2023-05-02T03:53:18.406-07:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":37824418,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[],"downloadable_attachments":[],"slug":"Enhancer_chromatin_insulator_non_coding_RNA_and_α_histone_gene_expression_during_embryogenesis_of_the_sea_urchin_Paracentrotus_lividus","translated_slug":"","page_count":null,"language":"it","content_type":"Work","owner":{"id":37824418,"first_name":"Raffaella","middle_initials":null,"last_name":"Melfi","page_name":"RaffaellaMelfi","domain_name":"independent","created_at":"2015-11-07T07:23:52.005-08:00","display_name":"Raffaella Melfi","url":"https://independent.academia.edu/RaffaellaMelfi"},"attachments":[],"research_interests":[{"id":523,"name":"Chemistry","url":"https://www.academia.edu/Documents/in/Chemistry"},{"id":13827,"name":"Cell Biology","url":"https://www.academia.edu/Documents/in/Cell_Biology"},{"id":238813,"name":"Chromatin","url":"https://www.academia.edu/Documents/in/Chromatin"},{"id":541820,"name":"Enhancer","url":"https://www.academia.edu/Documents/in/Enhancer"},{"id":560354,"name":"Sea Urchin","url":"https://www.academia.edu/Documents/in/Sea_Urchin"},{"id":771480,"name":"Paracentrotus lividus","url":"https://www.academia.edu/Documents/in/Paracentrotus_lividus"},{"id":910660,"name":"Histone","url":"https://www.academia.edu/Documents/in/Histone"}],"urls":[]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="97006454"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/97006454/Uptake_and_photoinduced_degradation_of_phthalic_acid_esters_PAEs_in_Ulva_lactuca_highlight_its_potential_application_in_environmental_bioremediation"><img alt="Research paper thumbnail of Uptake and photoinduced degradation of phthalic acid esters (PAEs) in Ulva lactuca highlight its potential application in environmental bioremediation" class="work-thumbnail" src="https://attachments.academia-assets.com/98747713/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/97006454/Uptake_and_photoinduced_degradation_of_phthalic_acid_esters_PAEs_in_Ulva_lactuca_highlight_its_potential_application_in_environmental_bioremediation">Uptake and photoinduced degradation of phthalic acid esters (PAEs) in Ulva lactuca highlight its potential application in environmental bioremediation</a></div><div class="wp-workCard_item"><span>Environmental Science and Pollution Research</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">The bioaccumulation of phthalates was studied in fragments of Ulva lactuca exposed for a maximum ...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">The bioaccumulation of phthalates was studied in fragments of Ulva lactuca exposed for a maximum of 31 days at different concentrations of a solution of six phthalic acid esters (PAEs). The algal matrix showed rapid uptake since the first sampling, which increased over the time of the experimental period, at the end of which seaweed’s bioaccumulation potential was also evaluated. After the uptake, the algal matrix was subjected to UV irradiation in order to verify the removal of the phthalates. PAEs with higher octanol–water partition coefficients (logKow) and molecular weights were preferentially uptaken by U. lactuca in all the exposure experiments. It was observed that both accumulation (biota-sediment accumulation factor (log10BSAF) ranging from 3.75 to 4.02) and photodegradation (higher than 70% removal for all phthalates in 8 h) are more efficient at lower concentration levels. These results suggest the potential use of the algal matrices for environmental bioremediation, in o...</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="5e211a0bc0b41db04eb836ddf597cdda" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":98747713,"asset_id":97006454,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/98747713/download_file?st=MTczMzM0MDI1Niw4LjIyMi4yMDguMTQ2&s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="97006454"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="97006454"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 97006454; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=97006454]").text(description); $(".js-view-count[data-work-id=97006454]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 97006454; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='97006454']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 97006454, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (true){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "5e211a0bc0b41db04eb836ddf597cdda" } } $('.js-work-strip[data-work-id=97006454]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":97006454,"title":"Uptake and photoinduced degradation of phthalic acid esters (PAEs) in Ulva lactuca highlight its potential application in environmental bioremediation","translated_title":"","metadata":{"abstract":"The bioaccumulation of phthalates was studied in fragments of Ulva lactuca exposed for a maximum of 31 days at different concentrations of a solution of six phthalic acid esters (PAEs). 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These results suggest the potential use of the algal matrices for environmental bioremediation, in 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$a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="97006453"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/97006453/Pharmacophore_Based_Design_of_New_Chemical_Scaffolds_as_Translational_Readthrough_Inducing_Drugs_TRIDs_"><img alt="Research paper thumbnail of Pharmacophore-Based Design of New Chemical Scaffolds as Translational Readthrough-Inducing Drugs (TRIDs)" class="work-thumbnail" src="https://attachments.academia-assets.com/98747800/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/97006453/Pharmacophore_Based_Design_of_New_Chemical_Scaffolds_as_Translational_Readthrough_Inducing_Drugs_TRIDs_">Pharmacophore-Based Design of New Chemical Scaffolds as Translational Readthrough-Inducing Drugs (TRIDs)</a></div><div class="wp-workCard_item"><span>ACS Medicinal Chemistry Letters</span><span>, 2020</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="14523ad1dfb75e711617e14d4c1305ed" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":98747800,"asset_id":97006453,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/98747800/download_file?st=MTczMzM0MDI1Niw4LjIyMi4yMDguMTQ2&s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span 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Small molecules have been developed as TRIDs to trick the ribosomal machinery during recognition of the PTC. Herein we report a computational study to identify new TRID scaffolds. A pharmacophore approach was carried out on compounds that showed readthrough activity. The pharmacophore model applied to screen different libraries containing more than 87000 compounds identified four hit-compounds presenting scaffolds with diversity from the oxadiazole lead. These compounds have been synthesized and tested using the Fluc reporter harboring the UGA PTC. Moreover, the cytotoxic effect and the expression of the CFTR protein were evaluated. These compounds, a benzimidazole derivative (NV2899), a benzoxazole derivative (NV2913), a thiazole derivative (NV2909), and a benzene-1,3-disulfonate derivative (NV2907), were shown to be potential new lead compounds as TRIDs, boosting further efforts to address the optimization of the chemical scaffolds.","publication_date":{"day":null,"month":null,"year":2020,"errors":{}},"publication_name":"ACS Medicinal Chemistry Letters","grobid_abstract_attachment_id":98747800},"translated_abstract":null,"internal_url":"https://www.academia.edu/97006453/Pharmacophore_Based_Design_of_New_Chemical_Scaffolds_as_Translational_Readthrough_Inducing_Drugs_TRIDs_","translated_internal_url":"","created_at":"2023-02-16T06:28:57.115-08:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":37824418,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[],"downloadable_attachments":[{"id":98747800,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/98747800/thumbnails/1.jpg","file_name":"pdf.pdf","download_url":"https://www.academia.edu/attachments/98747800/download_file?st=MTczMzM0MDI1Niw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"Pharmacophore_Based_Design_of_New_Chemic.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/98747800/pdf-libre.pdf?1676559302=\u0026response-content-disposition=attachment%3B+filename%3DPharmacophore_Based_Design_of_New_Chemic.pdf\u0026Expires=1733328420\u0026Signature=K2pb0ogBdFZSdzkZy7PA7~55rzFQ7ZBet9HJGkJmlouCh7WDcfSUqGBD6PO62pWrzkz8qFFttLGT6PTyq-wPWyKvlYh24TcZV3k628bd9xBu6hfLJCzLa7dmopGK~qrQsEMIwJKMu-aJuWKs3HkXNoVIYM20CIP5gs~hYqIdd1SP-0WrzfMBYtbPh7PJb-2x0GODhvzXvArD8qpZCWIgWNKEwFW0a6x1xtHyvg-C3RU0nSmu7jq3Xkx5~G0aV3vOvXYiA-H~f3~BUsMeJ2alkqILuj0Ks-a8XLGsrGjiIia0aLABoarKFH6~9MJaPFKSu~Z3vx5tFTGclJ58mBNCwg__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"slug":"Pharmacophore_Based_Design_of_New_Chemical_Scaffolds_as_Translational_Readthrough_Inducing_Drugs_TRIDs_","translated_slug":"","page_count":7,"language":"en","content_type":"Work","owner":{"id":37824418,"first_name":"Raffaella","middle_initials":null,"last_name":"Melfi","page_name":"RaffaellaMelfi","domain_name":"independent","created_at":"2015-11-07T07:23:52.005-08:00","display_name":"Raffaella Melfi","url":"https://independent.academia.edu/RaffaellaMelfi"},"attachments":[{"id":98747800,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/98747800/thumbnails/1.jpg","file_name":"pdf.pdf","download_url":"https://www.academia.edu/attachments/98747800/download_file?st=MTczMzM0MDI1Niw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"Pharmacophore_Based_Design_of_New_Chemic.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/98747800/pdf-libre.pdf?1676559302=\u0026response-content-disposition=attachment%3B+filename%3DPharmacophore_Based_Design_of_New_Chemic.pdf\u0026Expires=1733328420\u0026Signature=K2pb0ogBdFZSdzkZy7PA7~55rzFQ7ZBet9HJGkJmlouCh7WDcfSUqGBD6PO62pWrzkz8qFFttLGT6PTyq-wPWyKvlYh24TcZV3k628bd9xBu6hfLJCzLa7dmopGK~qrQsEMIwJKMu-aJuWKs3HkXNoVIYM20CIP5gs~hYqIdd1SP-0WrzfMBYtbPh7PJb-2x0GODhvzXvArD8qpZCWIgWNKEwFW0a6x1xtHyvg-C3RU0nSmu7jq3Xkx5~G0aV3vOvXYiA-H~f3~BUsMeJ2alkqILuj0Ks-a8XLGsrGjiIia0aLABoarKFH6~9MJaPFKSu~Z3vx5tFTGclJ58mBNCwg__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"research_interests":[{"id":523,"name":"Chemistry","url":"https://www.academia.edu/Documents/in/Chemistry"},{"id":531,"name":"Organic Chemistry","url":"https://www.academia.edu/Documents/in/Organic_Chemistry"},{"id":4233,"name":"Computational Biology","url":"https://www.academia.edu/Documents/in/Computational_Biology"},{"id":6946,"name":"Cystic Fibrosis","url":"https://www.academia.edu/Documents/in/Cystic_Fibrosis"},{"id":26327,"name":"Medicine","url":"https://www.academia.edu/Documents/in/Medicine"},{"id":1337586,"name":"Pharmacophore","url":"https://www.academia.edu/Documents/in/Pharmacophore"},{"id":3789884,"name":"Pharmacology and pharmaceutical sciences","url":"https://www.academia.edu/Documents/in/Pharmacology_and_pharmaceutical_sciences"}],"urls":[{"id":29031017,"url":"https://pubs.acs.org/doi/pdf/10.1021/acsmedchemlett.9b00609"}]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="97006452"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" rel="nofollow" href="https://www.academia.edu/97006452/PTC124_Derivatives_as_a_Novel_Approach_to_Improve_the_Readthrough_of_Premature_Amber_and_Ochre_Stop_Codons"><img alt="Research paper thumbnail of PTC124 Derivatives as a Novel Approach to Improve the Readthrough of Premature Amber and Ochre Stop Codons" class="work-thumbnail" src="https://a.academia-assets.com/images/blank-paper.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" rel="nofollow" href="https://www.academia.edu/97006452/PTC124_Derivatives_as_a_Novel_Approach_to_Improve_the_Readthrough_of_Premature_Amber_and_Ochre_Stop_Codons">PTC124 Derivatives as a Novel Approach to Improve the Readthrough of Premature Amber and Ochre Stop Codons</a></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">The presence of Premature Stop Codons (PTCs) in mRNA results in protein truncation that is respon...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">The presence of Premature Stop Codons (PTCs) in mRNA results in protein truncation that is responsible for inherited (genetic) diseases. Approximately 10% (worldwide) of patients affected by cystic fibrosis (CF) have nonsense mutations (UAA, UAG or UGA) in the CF trans-membrane regulator (CFTR) gene. CFTR mutations in the two genes (alleles) of a patient can be different, with one mutation being delta-F508 and the other a nonsense mutation. Pharmacological approaches aimed to rescue protein function have been proposed to directly overcome nonsense mutations. PTC124 (Ataluren) a small molecule that mimic the activity of aminoglycosides has been suggested to allow PTCs readthrough (Welch EM et al. Nature. 2007 May 3;447(7140):87-91.). However, despite the results obtained from &quot;in vitro&quot; and &quot;in vivo&quot; experiments as well the advanced clinical trials done with Ataluren, some caveats exist. In fact Ataluren has a lower activity against UAA and UAG than UGA nonsense mutations and also there is no general consensus about its mechanism of action. We think that is very important to develop drugs capable of promoting better PTCs read-through found in CF patients. Our project is aimed to design and synthesize new small molecules possessing wider activity towards PTCs than Ataluren. To this end Ataluren derivatives with the geometrical requirements to match the hydrogen bonding of the PTCs present in the mRNA will be synthesized. To evaluate these small molecules we will use human cultured cells engineerized with plasmids harboring PTCs in the H2BGFP, FLuc and RLuc reporter genes (Auld DS et al. Proc Natl Acad Sci U S A. 2009 Mar 3;106(9):3585-90.). Ability of the new molecules to promote PTCs read-through will be assessed by detecting fluorescence of the H2BGFP reporter gene by microscopy and by luminometer, and at molecular level by immunoblotting and Real time RT-PCR. Validation will consist in assessing CFTR status showed by IB3-1epithelial cells after treatment with the newly synthesized small molecules. We expect to obtain newly synthesized compounds displaying, in preclinical settings, better bioavailability and better activity than Ataluren to restore expression of the full-length proteins. The project deals with innovative research and its results could open up new avenues for the understanding of the mechanism of action of these small molecules as well for the development of new drugs for PTCs caused pathology</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="97006452"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="97006452"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 97006452; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=97006452]").text(description); $(".js-view-count[data-work-id=97006452]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 97006452; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='97006452']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 97006452, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (false){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "-1" } } $('.js-work-strip[data-work-id=97006452]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":97006452,"title":"PTC124 Derivatives as a Novel Approach to Improve the Readthrough of Premature Amber and Ochre Stop Codons","translated_title":"","metadata":{"abstract":"The presence of Premature Stop Codons (PTCs) in mRNA results in protein truncation that is responsible for inherited (genetic) diseases. Approximately 10% (worldwide) of patients affected by cystic fibrosis (CF) have nonsense mutations (UAA, UAG or UGA) in the CF trans-membrane regulator (CFTR) gene. CFTR mutations in the two genes (alleles) of a patient can be different, with one mutation being delta-F508 and the other a nonsense mutation. Pharmacological approaches aimed to rescue protein function have been proposed to directly overcome nonsense mutations. PTC124 (Ataluren) a small molecule that mimic the activity of aminoglycosides has been suggested to allow PTCs readthrough (Welch EM et al. Nature. 2007 May 3;447(7140):87-91.). However, despite the results obtained from \u0026quot;in vitro\u0026quot; and \u0026quot;in vivo\u0026quot; experiments as well the advanced clinical trials done with Ataluren, some caveats exist. In fact Ataluren has a lower activity against UAA and UAG than UGA nonsense mutations and also there is no general consensus about its mechanism of action. We think that is very important to develop drugs capable of promoting better PTCs read-through found in CF patients. Our project is aimed to design and synthesize new small molecules possessing wider activity towards PTCs than Ataluren. To this end Ataluren derivatives with the geometrical requirements to match the hydrogen bonding of the PTCs present in the mRNA will be synthesized. To evaluate these small molecules we will use human cultured cells engineerized with plasmids harboring PTCs in the H2BGFP, FLuc and RLuc reporter genes (Auld DS et al. Proc Natl Acad Sci U S A. 2009 Mar 3;106(9):3585-90.). Ability of the new molecules to promote PTCs read-through will be assessed by detecting fluorescence of the H2BGFP reporter gene by microscopy and by luminometer, and at molecular level by immunoblotting and Real time RT-PCR. Validation will consist in assessing CFTR status showed by IB3-1epithelial cells after treatment with the newly synthesized small molecules. We expect to obtain newly synthesized compounds displaying, in preclinical settings, better bioavailability and better activity than Ataluren to restore expression of the full-length proteins. The project deals with innovative research and its results could open up new avenues for the understanding of the mechanism of action of these small molecules as well for the development of new drugs for PTCs caused pathology"},"translated_abstract":"The presence of Premature Stop Codons (PTCs) in mRNA results in protein truncation that is responsible for inherited (genetic) diseases. Approximately 10% (worldwide) of patients affected by cystic fibrosis (CF) have nonsense mutations (UAA, UAG or UGA) in the CF trans-membrane regulator (CFTR) gene. CFTR mutations in the two genes (alleles) of a patient can be different, with one mutation being delta-F508 and the other a nonsense mutation. Pharmacological approaches aimed to rescue protein function have been proposed to directly overcome nonsense mutations. PTC124 (Ataluren) a small molecule that mimic the activity of aminoglycosides has been suggested to allow PTCs readthrough (Welch EM et al. Nature. 2007 May 3;447(7140):87-91.). However, despite the results obtained from \u0026quot;in vitro\u0026quot; and \u0026quot;in vivo\u0026quot; experiments as well the advanced clinical trials done with Ataluren, some caveats exist. In fact Ataluren has a lower activity against UAA and UAG than UGA nonsense mutations and also there is no general consensus about its mechanism of action. We think that is very important to develop drugs capable of promoting better PTCs read-through found in CF patients. Our project is aimed to design and synthesize new small molecules possessing wider activity towards PTCs than Ataluren. To this end Ataluren derivatives with the geometrical requirements to match the hydrogen bonding of the PTCs present in the mRNA will be synthesized. To evaluate these small molecules we will use human cultured cells engineerized with plasmids harboring PTCs in the H2BGFP, FLuc and RLuc reporter genes (Auld DS et al. Proc Natl Acad Sci U S A. 2009 Mar 3;106(9):3585-90.). Ability of the new molecules to promote PTCs read-through will be assessed by detecting fluorescence of the H2BGFP reporter gene by microscopy and by luminometer, and at molecular level by immunoblotting and Real time RT-PCR. Validation will consist in assessing CFTR status showed by IB3-1epithelial cells after treatment with the newly synthesized small molecules. We expect to obtain newly synthesized compounds displaying, in preclinical settings, better bioavailability and better activity than Ataluren to restore expression of the full-length proteins. The project deals with innovative research and its results could open up new avenues for the understanding of the mechanism of action of these small molecules as well for the development of new drugs for PTCs caused pathology","internal_url":"https://www.academia.edu/97006452/PTC124_Derivatives_as_a_Novel_Approach_to_Improve_the_Readthrough_of_Premature_Amber_and_Ochre_Stop_Codons","translated_internal_url":"","created_at":"2023-02-16T06:28:56.927-08:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":37824418,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[],"downloadable_attachments":[],"slug":"PTC124_Derivatives_as_a_Novel_Approach_to_Improve_the_Readthrough_of_Premature_Amber_and_Ochre_Stop_Codons","translated_slug":"","page_count":null,"language":"en","content_type":"Work","owner":{"id":37824418,"first_name":"Raffaella","middle_initials":null,"last_name":"Melfi","page_name":"RaffaellaMelfi","domain_name":"independent","created_at":"2015-11-07T07:23:52.005-08:00","display_name":"Raffaella Melfi","url":"https://independent.academia.edu/RaffaellaMelfi"},"attachments":[],"research_interests":[{"id":7710,"name":"Biology","url":"https://www.academia.edu/Documents/in/Biology"},{"id":181936,"name":"Gene","url":"https://www.academia.edu/Documents/in/Gene"}],"urls":[]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="97006380"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/97006380/The_genetic_identity_of_the_only_Italian_population_of_the_genus_Macroprotodon_Guichenot_1850_on_the_island_of_Lampedusa_Sicily"><img alt="Research paper thumbnail of The genetic identity of the only Italian population of the genus Macroprotodon Guichenot, 1850 on the island of Lampedusa, Sicily" class="work-thumbnail" src="https://attachments.academia-assets.com/98747731/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/97006380/The_genetic_identity_of_the_only_Italian_population_of_the_genus_Macroprotodon_Guichenot_1850_on_the_island_of_Lampedusa_Sicily">The genetic identity of the only Italian population of the genus Macroprotodon Guichenot, 1850 on the island of Lampedusa, Sicily</a></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">The only Italian population of false smooth snakes is found on Lampedusa, a small island located ...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">The only Italian population of false smooth snakes is found on Lampedusa, a small island located in the Sicilian Channel and part of the African continental shelf. The taxonomic identity of this population is currently uncertain, although it is most often attributed to Macroprotodon cucullatus textilis on a morphological basis. We present here the first genetic data on this population. The analysis carried out on the mitochondrial cytochrome b gene shows that the Lampedusan false smooth snake belongs to a clade shared with a single sample from central Tunisia. The genetic distance between this lineage and its sister group (M. abubakeri) is comparable to or higher than that found among many reptile species. To define the identity of this distinctive lineage, as well as the Macroprotodon taxonomic structure, further sampling efforts within the undersampled distribution area of this genus and more extensive analyses will be necessary.</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="cd612ba331289ce89a1ad29d1e5442aa" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":98747731,"asset_id":97006380,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/98747731/download_file?st=MTczMzM0MDI1Niw4LjIyMi4yMDguMTQ2&s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="97006380"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="97006380"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 97006380; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=97006380]").text(description); $(".js-view-count[data-work-id=97006380]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 97006380; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='97006380']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 97006380, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (true){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "cd612ba331289ce89a1ad29d1e5442aa" } } $('.js-work-strip[data-work-id=97006380]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":97006380,"title":"The genetic identity of the only Italian population of the genus Macroprotodon Guichenot, 1850 on the island of Lampedusa, Sicily","translated_title":"","metadata":{"abstract":"The only Italian population of false smooth snakes is found on Lampedusa, a small island located in the Sicilian Channel and part of the African continental shelf. The taxonomic identity of this population is currently uncertain, although it is most often attributed to Macroprotodon cucullatus textilis on a morphological basis. We present here the first genetic data on this population. The analysis carried out on the mitochondrial cytochrome b gene shows that the Lampedusan false smooth snake belongs to a clade shared with a single sample from central Tunisia. The genetic distance between this lineage and its sister group (M. abubakeri) is comparable to or higher than that found among many reptile species. To define the identity of this distinctive lineage, as well as the Macroprotodon taxonomic structure, further sampling efforts within the undersampled distribution area of this genus and more extensive analyses will be necessary.","publisher":"Senckenberg Gesellschaft für Naturforschung","ai_title_tag":"Genetic Analysis of Italian Macroprotodon on Lampedusa Island","publication_date":{"day":null,"month":null,"year":2020,"errors":{}}},"translated_abstract":"The only Italian population of false smooth snakes is found on Lampedusa, a small island located in the Sicilian Channel and part of the African continental shelf. The taxonomic identity of this population is currently uncertain, although it is most often attributed to Macroprotodon cucullatus textilis on a morphological basis. We present here the first genetic data on this population. The analysis carried out on the mitochondrial cytochrome b gene shows that the Lampedusan false smooth snake belongs to a clade shared with a single sample from central Tunisia. The genetic distance between this lineage and its sister group (M. abubakeri) is comparable to or higher than that found among many reptile species. To define the identity of this distinctive lineage, as well as the Macroprotodon taxonomic structure, further sampling efforts within the undersampled distribution area of this genus and more extensive analyses will be necessary.","internal_url":"https://www.academia.edu/97006380/The_genetic_identity_of_the_only_Italian_population_of_the_genus_Macroprotodon_Guichenot_1850_on_the_island_of_Lampedusa_Sicily","translated_internal_url":"","created_at":"2023-02-16T06:27:57.718-08:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":37824418,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[],"downloadable_attachments":[{"id":98747731,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/98747731/thumbnails/1.jpg","file_name":"VZ_article_30068.pdf","download_url":"https://www.academia.edu/attachments/98747731/download_file?st=MTczMzM0MDI1Niw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"The_genetic_identity_of_the_only_Italian.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/98747731/VZ_article_30068-libre.pdf?1676559311=\u0026response-content-disposition=attachment%3B+filename%3DThe_genetic_identity_of_the_only_Italian.pdf\u0026Expires=1733328420\u0026Signature=Y2drnjiInItBdx1Mf7TJcTMe6cUoXatNpzAMR9hJOjIaspP8PSwUqWZVYREA~6UNL5FhgcOMfofAZ0TM5T7noXVTumZ1SmPN1fjzm92FTQSeKFlYzAK3toCHvcnfBWKedRZFh748ALYLuxFXaDsemQvWK1k1C5HpGa83FqwL3XfDZxtMMWmO-2ajjtB3lnGrUo1p4gibzMA2OQ4ypU1KrWvgq8mlauWM4SnkIYsQILl-NYNJT5bd4Ulm2ByPcV2~lMbtT0rvkXQWZvg9QOtAKauwOfEkwnrNZBbxKBZwtIs~Q8OcZC6MLCLj-0cWnNYoYu4QZlPrhkT1Lh05dWcHQA__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"slug":"The_genetic_identity_of_the_only_Italian_population_of_the_genus_Macroprotodon_Guichenot_1850_on_the_island_of_Lampedusa_Sicily","translated_slug":"","page_count":6,"language":"en","content_type":"Work","owner":{"id":37824418,"first_name":"Raffaella","middle_initials":null,"last_name":"Melfi","page_name":"RaffaellaMelfi","domain_name":"independent","created_at":"2015-11-07T07:23:52.005-08:00","display_name":"Raffaella Melfi","url":"https://independent.academia.edu/RaffaellaMelfi"},"attachments":[{"id":98747731,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/98747731/thumbnails/1.jpg","file_name":"VZ_article_30068.pdf","download_url":"https://www.academia.edu/attachments/98747731/download_file?st=MTczMzM0MDI1Niw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"The_genetic_identity_of_the_only_Italian.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/98747731/VZ_article_30068-libre.pdf?1676559311=\u0026response-content-disposition=attachment%3B+filename%3DThe_genetic_identity_of_the_only_Italian.pdf\u0026Expires=1733328420\u0026Signature=Y2drnjiInItBdx1Mf7TJcTMe6cUoXatNpzAMR9hJOjIaspP8PSwUqWZVYREA~6UNL5FhgcOMfofAZ0TM5T7noXVTumZ1SmPN1fjzm92FTQSeKFlYzAK3toCHvcnfBWKedRZFh748ALYLuxFXaDsemQvWK1k1C5HpGa83FqwL3XfDZxtMMWmO-2ajjtB3lnGrUo1p4gibzMA2OQ4ypU1KrWvgq8mlauWM4SnkIYsQILl-NYNJT5bd4Ulm2ByPcV2~lMbtT0rvkXQWZvg9QOtAKauwOfEkwnrNZBbxKBZwtIs~Q8OcZC6MLCLj-0cWnNYoYu4QZlPrhkT1Lh05dWcHQA__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"research_interests":[{"id":261,"name":"Geography","url":"https://www.academia.edu/Documents/in/Geography"},{"id":17018,"name":"Music and identity","url":"https://www.academia.edu/Documents/in/Music_and_identity"},{"id":45213,"name":"Italy","url":"https://www.academia.edu/Documents/in/Italy"},{"id":64336,"name":"Population","url":"https://www.academia.edu/Documents/in/Population"},{"id":195890,"name":"Genus","url":"https://www.academia.edu/Documents/in/Genus"},{"id":285947,"name":"Vertebrate Zoology","url":"https://www.academia.edu/Documents/in/Vertebrate_Zoology"},{"id":723582,"name":"Music Teacher Identity","url":"https://www.academia.edu/Documents/in/Music_Teacher_Identity"}],"urls":[]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="86312920"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/86312920/Impact_of_Heavy_Metals_in_Eggs_and_Tissues_of_C_caretta_along_the_Sicilian_Coast_Mediterranean_Sea_"><img alt="Research paper thumbnail of Impact of Heavy Metals in Eggs and Tissues of C. caretta along the Sicilian Coast (Mediterranean Sea)" class="work-thumbnail" src="https://attachments.academia-assets.com/90792057/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/86312920/Impact_of_Heavy_Metals_in_Eggs_and_Tissues_of_C_caretta_along_the_Sicilian_Coast_Mediterranean_Sea_">Impact of Heavy Metals in Eggs and Tissues of C. caretta along the Sicilian Coast (Mediterranean Sea)</a></div><div class="wp-workCard_item"><span>Environments</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">In this study we compared the heavy metal concentration found in different tissues and eggs of th...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">In this study we compared the heavy metal concentration found in different tissues and eggs of the loggerhead sea turtle and evaluated the potential ecotoxicological risk for this important species. Eighteen heavy metal elements were determined in different tissues (liver, gonads, fat, kidney, heart, brain, and spleen) of nine individuals of Caretta caretta found stranded along the coasts of Messina (Sicily, Italy) and in the shell and yolk of six eggs from the island of Linosa (Sicily, Italy). For the analysis of the heavy metals, we used the analytical procedures in accordance with the EPA 200.8 method supplemented by EPA 6020b with three replicates for each measurement. The elements analysed showed different organotropism even if the liver showed higher levels of bioaccumulation. Turtles’ tissues showed the highest values of iron in the liver, followed by zinc in the heart and arsenic in the kidney. Regarding eggs, zinc, iron, and barium were dominant in the yolk and iron, boron,...</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="d0c25e27c01bee2f956130b065512b1f" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":90792057,"asset_id":86312920,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/90792057/download_file?st=MTczMzM0MDI1Niw4LjIyMi4yMDguMTQ2&s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="86312920"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="86312920"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 86312920; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=86312920]").text(description); $(".js-view-count[data-work-id=86312920]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 86312920; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='86312920']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 86312920, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (true){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "d0c25e27c01bee2f956130b065512b1f" } } $('.js-work-strip[data-work-id=86312920]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":86312920,"title":"Impact of Heavy Metals in Eggs and Tissues of C. caretta along the Sicilian Coast (Mediterranean Sea)","translated_title":"","metadata":{"abstract":"In this study we compared the heavy metal concentration found in different tissues and eggs of the loggerhead sea turtle and evaluated the potential ecotoxicological risk for this important species. Eighteen heavy metal elements were determined in different tissues (liver, gonads, fat, kidney, heart, brain, and spleen) of nine individuals of Caretta caretta found stranded along the coasts of Messina (Sicily, Italy) and in the shell and yolk of six eggs from the island of Linosa (Sicily, Italy). For the analysis of the heavy metals, we used the analytical procedures in accordance with the EPA 200.8 method supplemented by EPA 6020b with three replicates for each measurement. The elements analysed showed different organotropism even if the liver showed higher levels of bioaccumulation. Turtles’ tissues showed the highest values of iron in the liver, followed by zinc in the heart and arsenic in the kidney. 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The elements analysed showed different organotropism even if the liver showed higher levels of bioaccumulation. Turtles’ tissues showed the highest values of iron in the liver, followed by zinc in the heart and arsenic in the kidney. 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