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(PDF) Presenilin immunoreactivity in Alzheimer's disease

<!DOCTYPE html> <html > <head> <meta charset="utf-8"> <meta rel="search" type="application/opensearchdescription+xml" href="/open_search.xml" title="Academia.edu"> <meta content="width=device-width, initial-scale=1" name="viewport"> <meta name="google-site-verification" content="bKJMBZA7E43xhDOopFZkssMMkBRjvYERV-NaN4R6mrs"> <meta name="csrf-param" content="authenticity_token" /> <meta name="csrf-token" content="GaJn5eeLkjEOTTDEudNwfrQRjxaCVp-W67fCHFi2SjP43vu0ZXm3Emt79QumRbANn5mFRQbM-QT_MgTLdmyG0A" /> <meta name="citation_title" content="Presenilin immunoreactivity in Alzheimer&amp;#39;s disease" /> <meta name="citation_publication_date" content="2005/01/01" /> <meta name="citation_journal_title" content="European Journal of Neurology" /> <meta name="citation_author" content="Peter Panegyres" /> <meta name="twitter:card" content="summary" /> <meta name="twitter:url" content="https://www.academia.edu/53657813/Presenilin_immunoreactivity_in_Alzheimers_disease" /> <meta name="twitter:title" content="Presenilin immunoreactivity in Alzheimer&#39;s disease" /> <meta name="twitter:description" content="The role of presenilin (PS) mutations in familial Alzheimer&amp;#39;s disease (AD) may be as a toxic gain of function, but in sporadic disease their contribution is more difficult to understand. In this study, we investigated PS proteins in sporadic AD" /> <meta name="twitter:image" content="http://a.academia-assets.com/images/twitter-card.jpeg" /> <meta property="fb:app_id" content="2369844204" /> <meta property="og:type" content="article" /> <meta property="og:url" content="https://www.academia.edu/53657813/Presenilin_immunoreactivity_in_Alzheimers_disease" /> <meta property="og:title" content="Presenilin immunoreactivity in Alzheimer&#39;s disease" /> <meta property="og:image" content="http://a.academia-assets.com/images/open-graph-icons/fb-paper.gif" /> <meta property="og:description" content="The role of presenilin (PS) mutations in familial Alzheimer&amp;#39;s disease (AD) may be as a toxic gain of function, but in sporadic disease their contribution is more difficult to understand. In this study, we investigated PS proteins in sporadic AD" /> <meta property="article:author" content="https://uwa.academia.edu/PeterPanegyres" /> <meta name="description" content="The role of presenilin (PS) mutations in familial Alzheimer&amp;#39;s disease (AD) may be as a toxic gain of function, but in sporadic disease their contribution is more difficult to understand. In this study, we investigated PS proteins in sporadic AD" /> <title>(PDF) Presenilin immunoreactivity in Alzheimer&#39;s disease</title> <link rel="canonical" href="https://www.academia.edu/53657813/Presenilin_immunoreactivity_in_Alzheimers_disease" /> <script async src="https://www.googletagmanager.com/gtag/js?id=G-5VKX33P2DS"></script> <script> window.dataLayer = window.dataLayer || []; function gtag(){dataLayer.push(arguments);} gtag('js', new Date()); gtag('config', 'G-5VKX33P2DS', { cookie_domain: 'academia.edu', send_page_view: false, }); gtag('event', 'page_view', { 'controller': "single_work", 'action': "show", 'controller_action': 'single_work#show', 'logged_in': 'false', 'edge': 'unknown', // Send nil if there is no A/B test bucket, in case some records get logged // with missing data - that way we can distinguish between the two cases. // ab_test_bucket should be of the form <ab_test_name>:<bucket> 'ab_test_bucket': null, }) </script> <script> var $controller_name = 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window.loswp.showSignupCaptcha = false window.loswp.willEdgeCache = false; window.loswp.work = {"work":{"id":53657813,"created_at":"2021-09-28T02:32:51.312-07:00","from_world_paper_id":174319248,"updated_at":"2024-11-24T12:38:41.647-08:00","_data":{"publisher":"Wiley-Blackwell","grobid_abstract":"The role of presenilin (PS) mutations in familial Alzheimer's disease (AD) may be as a toxic gain of function, but in sporadic disease their contribution is more difficult to understand. In this study, we investigated PS proteins in sporadic AD by comparing the immunocytochemical profiles in sporadic AD with control brains using a quantitative immunocytochemical approach to both the N-and C-terminals of PS1 and PS2. Ten patients with pathologically proven AD (using modified Consortium to Establish a Registry for Alzheimer's Disease [CERAD] criteria) and 10 controls were age-and sex-matched. The immunocytochemical primary antibodies were affinitypurified goat polyclonal antibodies and the secondary antibodies were biotinylated donkey anti-goat to the N-and C-terminal of both PS1 and PS2. The number of PScontaining neurones was quantified manually and without the knowledge of the diagnosis. We found no significant differences in the number of PS1-and PS2-containing neurones in three anatomical regions for both N-and C-terminals between AD and controls. Our findings argue in favour of functional changes in PS molecules contributing to the pathogenesis of AD and are consistent with the hypothesis of dysfunction of the entire c-secretase complex, of which PS proteins are a constituent.","publication_date":"2005,,","publication_name":"European Journal of Neurology","grobid_abstract_attachment_id":"70399182"},"document_type":"paper","pre_hit_view_count_baseline":null,"quality":"high","language":"en","title":"Presenilin immunoreactivity in Alzheimer's disease","broadcastable":false,"draft":null,"has_indexable_attachment":true,"indexable":true}}["work"]; window.loswp.workCoauthors = [131919228]; window.loswp.locale = "en"; window.loswp.countryCode = "SG"; window.loswp.cwvAbTestBucket = ""; window.loswp.designVariant = "ds_vanilla"; window.loswp.fullPageMobileSutdModalVariant = "full_page_mobile_sutd_modal"; window.loswp.useOptimizedScribd4genScript = false; window.loginModal = {}; window.loginModal.appleClientId = 'edu.academia.applesignon'; window.userInChina = "false";</script><script defer="" src="https://accounts.google.com/gsi/client"></script><div class="ds-loswp-container"><div class="ds-work-card--grid-container"><div class="ds-work-card--container js-loswp-work-card ds-work-card--no-bottom-spacing"><div class="ds-work-card--cover"><div class="ds-work-cover--wrapper"><div class="ds-work-cover--container"><button class="ds-work-cover--clickable js-swp-download-button" data-signup-modal="{&quot;location&quot;:&quot;swp-splash-paper-cover&quot;,&quot;attachmentId&quot;:70399182,&quot;attachmentType&quot;:&quot;pdf&quot;}"><img alt="First page of “Presenilin immunoreactivity in Alzheimer&#39;s disease”" class="ds-work-cover--cover-thumbnail" src="https://0.academia-photos.com/attachment_thumbnails/70399182/mini_magick20210928-14792-1e8tmym.png?1632821792" /><img alt="PDF Icon" class="ds-work-cover--file-icon" src="//a.academia-assets.com/images/single_work_splash/adobe_icon.svg" /><div class="ds-work-cover--hover-container"><span class="material-symbols-outlined" style="font-size: 20px" translate="no">download</span><p>Download Free PDF</p></div><div class="ds-work-cover--ribbon-container">Download Free PDF</div><div class="ds-work-cover--ribbon-triangle"></div></button></div></div></div><div class="ds-work-card--work-information"><h1 class="ds-work-card--work-title">Presenilin immunoreactivity in Alzheimer&#39;s disease</h1><div class="ds-work-card--work-authors ds-work-card--detail"><a class="ds-work-card--author js-wsj-grid-card-author ds2-5-body-md ds2-5-body-link" data-author-id="131919228" href="https://uwa.academia.edu/PeterPanegyres"><img alt="Profile image of Peter Panegyres" class="ds-work-card--author-avatar" src="//a.academia-assets.com/images/s65_no_pic.png" />Peter Panegyres</a></div><div class="ds-work-card--detail"><p class="ds-work-card--detail ds2-5-body-sm">2005, European Journal of Neurology</p><div class="ds-work-card--work-metadata"><div class="ds-work-card--work-metadata__stat"><span class="material-symbols-outlined" style="font-size: 20px" translate="no">visibility</span><p class="ds2-5-body-sm" id="work-metadata-view-count">…</p></div><div class="ds-work-card--work-metadata__stat"><span class="material-symbols-outlined" style="font-size: 20px" translate="no">description</span><p class="ds2-5-body-sm">7 pages</p></div><div class="ds-work-card--work-metadata__stat"><span class="material-symbols-outlined" style="font-size: 20px" translate="no">link</span><p class="ds2-5-body-sm">1 file</p></div></div><script>(async () => { const workId = 53657813; 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if (!viewCountBody) { throw new Error('Failed to find work views element'); } viewCountBody.textContent = `${commaizedViewCount} views`; } catch (error) { // Remove the whole views element if there was some issue parsing. document.getElementById('work-metadata-view-count')?.parentNode?.remove(); throw new Error(`Failed to parse view count: ${viewCount}`, error); } }; // If the DOM is still loading, wait for it to be ready before updating the view count. if (document.readyState === "loading") { document.addEventListener('DOMContentLoaded', () => { updateViewCount(viewCount); }); // Otherwise, just update it immediately. } else { updateViewCount(viewCount); } })();</script></div><p class="ds-work-card--work-abstract ds-work-card--detail ds2-5-body-md">The role of presenilin (PS) mutations in familial Alzheimer&#39;s disease (AD) may be as a toxic gain of function, but in sporadic disease their contribution is more difficult to understand. In this study, we investigated PS proteins in sporadic AD by comparing the immunocytochemical profiles in sporadic AD with control brains using a quantitative immunocytochemical approach to both the N-and C-terminals of PS1 and PS2. Ten patients with pathologically proven AD (using modified Consortium to Establish a Registry for Alzheimer&#39;s Disease [CERAD] criteria) and 10 controls were age-and sex-matched. The immunocytochemical primary antibodies were affinitypurified goat polyclonal antibodies and the secondary antibodies were biotinylated donkey anti-goat to the N-and C-terminal of both PS1 and PS2. The number of PScontaining neurones was quantified manually and without the knowledge of the diagnosis. We found no significant differences in the number of PS1-and PS2-containing neurones in three anatomical regions for both N-and C-terminals between AD and controls. Our findings argue in favour of functional changes in PS molecules contributing to the pathogenesis of AD and are consistent with the hypothesis of dysfunction of the entire c-secretase complex, of which PS proteins are a constituent.</p><div class="ds-work-card--button-container"><button class="ds2-5-button js-swp-download-button" data-signup-modal="{&quot;location&quot;:&quot;continue-reading-button--work-card&quot;,&quot;attachmentId&quot;:70399182,&quot;attachmentType&quot;:&quot;pdf&quot;,&quot;workUrl&quot;:&quot;https://www.academia.edu/53657813/Presenilin_immunoreactivity_in_Alzheimers_disease&quot;}">See full PDF</button><button class="ds2-5-button ds2-5-button--secondary js-swp-download-button" data-signup-modal="{&quot;location&quot;:&quot;download-pdf-button--work-card&quot;,&quot;attachmentId&quot;:70399182,&quot;attachmentType&quot;:&quot;pdf&quot;,&quot;workUrl&quot;:&quot;https://www.academia.edu/53657813/Presenilin_immunoreactivity_in_Alzheimers_disease&quot;}"><span class="material-symbols-outlined" style="font-size: 20px" translate="no">download</span>Download PDF</button></div><div class="ds-signup-banner-trigger-container"><div class="ds-signup-banner-trigger ds-signup-banner-trigger-control"></div></div><div class="ds-signup-banner ds-signup-banner-control"><div id="ds-signup-banner-close-button"><button class="ds2-5-button ds2-5-button--secondary ds2-5-button--inverse"><span class="material-symbols-outlined" style="font-size: 20px" translate="no">close</span></button></div><div class="ds-signup-banner-ctas"><img src="//a.academia-assets.com/images/academia-logo-capital-white.svg" /><h4 class="ds2-5-heading-serif-sm">Sign up for access to the world's latest research</h4><button class="ds2-5-button ds2-5-button--inverse ds2-5-button--full-width js-swp-download-button" data-signup-modal="{&quot;location&quot;:&quot;signup-banner&quot;}">Sign up for free<span class="material-symbols-outlined" style="font-size: 20px" translate="no">arrow_forward</span></button></div><div class="ds-signup-banner-divider"></div><div class="ds-signup-banner-reasons"><div class="ds-signup-banner-reasons-item"><span class="material-symbols-outlined" style="font-size: 24px" translate="no">check</span><span>Get notified about relevant papers</span></div><div class="ds-signup-banner-reasons-item"><span class="material-symbols-outlined" style="font-size: 24px" translate="no">check</span><span>Save papers to use in your research</span></div><div class="ds-signup-banner-reasons-item"><span class="material-symbols-outlined" style="font-size: 24px" translate="no">check</span><span>Join the discussion with peers</span></div><div class="ds-signup-banner-reasons-item"><span class="material-symbols-outlined" style="font-size: 24px" translate="no">check</span><span>Track your impact</span></div></div></div><script>(() => { // Set up signup banner show/hide behavior: // 1. 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Luehrs</a></div><p class="ds-related-work--metadata ds2-5-body-xs">Molecular Neurodegeneration, 2008</p><div class="ds-related-work--ctas"><button class="ds2-5-text-link ds2-5-text-link--inline js-swp-download-button" data-signup-modal="{&quot;location&quot;:&quot;wsj-grid-card-download-pdf-modal&quot;,&quot;work_title&quot;:&quot;Histopathological and molecular heterogeneity among individuals with dementia associated with Presenilin mutations&quot;,&quot;attachmentId&quot;:96153617,&quot;attachmentType&quot;:&quot;pdf&quot;,&quot;work_url&quot;:&quot;https://www.academia.edu/93407616/Histopathological_and_molecular_heterogeneity_among_individuals_with_dementia_associated_with_Presenilin_mutations&quot;,&quot;alternativeTracking&quot;:true}"><span class="material-symbols-outlined" style="font-size: 18px" translate="no">download</span><span class="ds2-5-text-link__content">Download free PDF</span></button><a class="ds2-5-text-link ds2-5-text-link--inline 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class="js-related-work-grid-card-author ds2-5-body-sm ds2-5-body-link" data-author-id="57228871" href="https://independent.academia.edu/BYoke%C5%9F">Baki Yokeş</a></div><p class="ds-related-work--metadata ds2-5-body-xs">Electrica, 2018</p><div class="ds-related-work--ctas"><button class="ds2-5-text-link ds2-5-text-link--inline js-swp-download-button" data-signup-modal="{&quot;location&quot;:&quot;wsj-grid-card-download-pdf-modal&quot;,&quot;work_title&quot;:&quot;Cloning of Presenilin 2 cDNA and Construction of Vectors Carrying Effective Mutations in the Pathogenesis of Familial Alzheimer&#39;s Disease&quot;,&quot;attachmentId&quot;:89483807,&quot;attachmentType&quot;:&quot;pdf&quot;,&quot;work_url&quot;:&quot;https://www.academia.edu/84470113/Cloning_of_Presenilin_2_cDNA_and_Construction_of_Vectors_Carrying_Effective_Mutations_in_the_Pathogenesis_of_Familial_Alzheimers_Disease&quot;,&quot;alternativeTracking&quot;:true}"><span class="material-symbols-outlined" style="font-size: 18px" translate="no">download</span><span class="ds2-5-text-link__content">Download free PDF</span></button><a class="ds2-5-text-link ds2-5-text-link--inline js-related-work-grid-card-view-pdf" href="https://www.academia.edu/84470113/Cloning_of_Presenilin_2_cDNA_and_Construction_of_Vectors_Carrying_Effective_Mutations_in_the_Pathogenesis_of_Familial_Alzheimers_Disease"><span class="ds2-5-text-link__content">View PDF</span><span class="material-symbols-outlined" style="font-size: 18px" translate="no">chevron_right</span></a></div></div><div class="ds-related-work--container js-related-work-sidebar-card" data-collection-position="8" data-entity-id="28170185" data-sort-order="default"><a class="ds-related-work--title js-related-work-grid-card-title ds2-5-body-md ds2-5-body-link" href="https://www.academia.edu/28170185/Early_onset_Alzheimers_disease_with_a_de_novo_mutation_in_the_presenilin_1_gene">Early-onset Alzheimer&#39;s disease with a de novo mutation in the presenilin 1 gene</a><div class="ds-related-work--metadata"><a class="js-related-work-grid-card-author ds2-5-body-sm ds2-5-body-link" data-author-id="52804257" href="https://independent.academia.edu/S%C5%82awomirFilipek">Sławomir Filipek</a></div><p class="ds-related-work--metadata ds2-5-body-xs">Experimental Neurology, 2007</p><div class="ds-related-work--ctas"><button class="ds2-5-text-link ds2-5-text-link--inline js-swp-download-button" data-signup-modal="{&quot;location&quot;:&quot;wsj-grid-card-download-pdf-modal&quot;,&quot;work_title&quot;:&quot;Early-onset Alzheimer&#39;s disease with a de novo mutation in the presenilin 1 gene&quot;,&quot;attachmentId&quot;:48484588,&quot;attachmentType&quot;:&quot;pdf&quot;,&quot;work_url&quot;:&quot;https://www.academia.edu/28170185/Early_onset_Alzheimers_disease_with_a_de_novo_mutation_in_the_presenilin_1_gene&quot;,&quot;alternativeTracking&quot;:true}"><span class="material-symbols-outlined" style="font-size: 18px" translate="no">download</span><span 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study</a><div class="ds-related-work--metadata"><a class="js-related-work-grid-card-author ds2-5-body-sm ds2-5-body-link" data-author-id="38561576" href="https://sorbonne-fr.academia.edu/KhalidHachimi">Khalid Hachimi</a></div><p class="ds-related-work--metadata ds2-5-body-xs">Acta Neuropathologica, 1996</p><div class="ds-related-work--ctas"><button class="ds2-5-text-link ds2-5-text-link--inline js-swp-download-button" data-signup-modal="{&quot;location&quot;:&quot;wsj-grid-card-download-pdf-modal&quot;,&quot;work_title&quot;:&quot;Widespread immunoreactivity of presenilin in neurons of normal and Alzheimer&#39;s disease brains: double-labeling immunohistochemical 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data-collection-position="10" data-entity-id="104667119" data-sort-order="default"><a class="ds-related-work--title js-related-work-grid-card-title ds2-5-body-md ds2-5-body-link" href="https://www.academia.edu/104667119/Different_effects_of_Alzheimer_associated_mutations_of_presenilin_1_on_its_processing">Different effects of Alzheimer-associated mutations of presenilin 1 on its processing</a><div class="ds-related-work--metadata"><a class="js-related-work-grid-card-author ds2-5-body-sm ds2-5-body-link" data-author-id="278897023" href="https://independent.academia.edu/ShaochuenSong">Shaochuen Song</a><span>, </span><a class="js-related-work-grid-card-author ds2-5-body-sm ds2-5-body-link" data-author-id="40269133" href="https://independent.academia.edu/MichelGilles">Gilles Michel</a></div><p class="ds-related-work--metadata ds2-5-body-xs">Neuroscience Letters, 1997</p><div class="ds-related-work--ctas"><button class="ds2-5-text-link ds2-5-text-link--inline js-swp-download-button" 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translate="no">chevron_right</span></a></div></div><div class="ds-related-work--container js-related-work-sidebar-card" data-collection-position="11" data-entity-id="15146327" data-sort-order="default"><a class="ds-related-work--title js-related-work-grid-card-title ds2-5-body-md ds2-5-body-link" href="https://www.academia.edu/15146327/Variable_expression_of_presenilin_1_is_not_a_major_determinant_of_risk_for_late_onset_Alzheimers_Disease">Variable expression of presenilin 1 is not a major determinant of risk for late-onset Alzheimer&#39;s Disease</a><div class="ds-related-work--metadata"><a class="js-related-work-grid-card-author ds2-5-body-sm ds2-5-body-link" data-author-id="34184170" href="https://independent.academia.edu/MCruts">Marc Cruts</a></div><p class="ds-related-work--metadata ds2-5-body-xs">Journal of Neurology, 2001</p><div class="ds-related-work--ctas"><button class="ds2-5-text-link ds2-5-text-link--inline js-swp-download-button" 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class="material-symbols-outlined" style="font-size: 18px" translate="no">chevron_right</span></a></div></div><div class="ds-related-work--container js-related-work-sidebar-card" data-collection-position="12" data-entity-id="764319" data-sort-order="default"><a class="ds-related-work--title js-related-work-grid-card-title ds2-5-body-md ds2-5-body-link" href="https://www.academia.edu/764319/Familial_Alzheimers_disease_linked_presenilin_1_variants_elevate_A_beta_1_42_1_40_ratio_in_vitro_and_in_vivo">Familial Alzheimer&#39;s disease-linked presenilin 1 variants elevate A [beta] 1-42/1-40 ratio in vitro and in vivo</a><div class="ds-related-work--metadata"><a class="js-related-work-grid-card-author ds2-5-body-sm ds2-5-body-link" data-author-id="582045" href="https://atbunet.academia.edu/yagersamuel">yager samuel</a></div><p class="ds-related-work--metadata ds2-5-body-xs">Neuron, 1996</p><div class="ds-related-work--ctas"><button class="ds2-5-text-link ds2-5-text-link--inline 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PDF</span><span class="material-symbols-outlined" style="font-size: 18px" translate="no">chevron_right</span></a></div></div><div class="ds-related-work--container js-related-work-sidebar-card" data-collection-position="13" data-entity-id="53509272" data-sort-order="default"><a class="ds-related-work--title js-related-work-grid-card-title ds2-5-body-md ds2-5-body-link" href="https://www.academia.edu/53509272/Cerebrospinal_fluid_Presenilin_1_increases_at_asymptomatic_stage_in_genetically_determined_Alzheimer_s_disease">Cerebrospinal fluid Presenilin-1 increases at asymptomatic stage in genetically determined Alzheimer’s disease</a><div class="ds-related-work--metadata"><a class="js-related-work-grid-card-author ds2-5-body-sm ds2-5-body-link" data-author-id="32842790" href="https://independent.academia.edu/Mar%C3%ADasaludGarc%C3%ADaayll%C3%B3n">María-salud García-ayllón</a></div><p class="ds-related-work--metadata ds2-5-body-xs">Molecular Neurodegeneration, 2016</p><div class="ds-related-work--ctas"><button class="ds2-5-text-link ds2-5-text-link--inline js-swp-download-button" data-signup-modal="{&quot;location&quot;:&quot;wsj-grid-card-download-pdf-modal&quot;,&quot;work_title&quot;:&quot;Cerebrospinal fluid Presenilin-1 increases at asymptomatic stage in genetically determined Alzheimer’s disease&quot;,&quot;attachmentId&quot;:70320232,&quot;attachmentType&quot;:&quot;pdf&quot;,&quot;work_url&quot;:&quot;https://www.academia.edu/53509272/Cerebrospinal_fluid_Presenilin_1_increases_at_asymptomatic_stage_in_genetically_determined_Alzheimer_s_disease&quot;,&quot;alternativeTracking&quot;:true}"><span class="material-symbols-outlined" style="font-size: 18px" translate="no">download</span><span class="ds2-5-text-link__content">Download free PDF</span></button><a class="ds2-5-text-link ds2-5-text-link--inline js-related-work-grid-card-view-pdf" href="https://www.academia.edu/53509272/Cerebrospinal_fluid_Presenilin_1_increases_at_asymptomatic_stage_in_genetically_determined_Alzheimer_s_disease"><span class="ds2-5-text-link__content">View PDF</span><span class="material-symbols-outlined" style="font-size: 18px" translate="no">chevron_right</span></a></div></div><div class="ds-related-work--container js-related-work-sidebar-card" data-collection-position="14" data-entity-id="65059135" data-sort-order="default"><a class="ds-related-work--title js-related-work-grid-card-title ds2-5-body-md ds2-5-body-link" href="https://www.academia.edu/65059135/The_Presenilins_and_Alzheimers_Disease">The Presenilins and Alzheimer&#39;s Disease</a><div class="ds-related-work--metadata"><a class="js-related-work-grid-card-author ds2-5-body-sm ds2-5-body-link" data-author-id="53235136" href="https://sbsuny.academia.edu/DmitryGoldgaber">Dmitry Goldgaber</a></div><p class="ds-related-work--metadata ds2-5-body-xs">Human molecular genetics, 1997</p><div 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translate="no">chevron_right</span></a></div></div><div class="ds-related-work--container js-related-work-sidebar-card" data-collection-position="15" data-entity-id="21088582" data-sort-order="default"><a class="ds-related-work--title js-related-work-grid-card-title ds2-5-body-md ds2-5-body-link" href="https://www.academia.edu/21088582/Mutated_presenilins_and_Alzheimers_disease_the_culprit_could_be_calcium_signaling">Mutated presenilins and Alzheimer&#39;s disease: the culprit could be calcium signaling</a><div class="ds-related-work--metadata"><a class="js-related-work-grid-card-author ds2-5-body-sm ds2-5-body-link" data-author-id="42197411" href="https://telaviv.academia.edu/DavidGurwitz">David Gurwitz</a></div><p class="ds-related-work--metadata ds2-5-body-xs">Clinical Genetics, 2001</p><div class="ds-related-work--ctas"><button class="ds2-5-text-link ds2-5-text-link--inline js-swp-download-button" 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Oliva</a></div><p class="ds-related-work--metadata ds2-5-body-xs">Neuroscience Letters, 2002</p><div class="ds-related-work--ctas"><button class="ds2-5-text-link ds2-5-text-link--inline js-swp-download-button" data-signup-modal="{&quot;location&quot;:&quot;wsj-grid-card-download-pdf-modal&quot;,&quot;work_title&quot;:&quot;Uncommon polymorphism in the presenilin genes in human familial Alzheimer&#39;s disease: not to be mistaken with a pathogenic mutation&quot;,&quot;attachmentId&quot;:85155385,&quot;attachmentType&quot;:&quot;pdf&quot;,&quot;work_url&quot;:&quot;https://www.academia.edu/77933050/Uncommon_polymorphism_in_the_presenilin_genes_in_human_familial_Alzheimers_disease_not_to_be_mistaken_with_a_pathogenic_mutation&quot;,&quot;alternativeTracking&quot;:true}"><span class="material-symbols-outlined" style="font-size: 18px" translate="no">download</span><span class="ds2-5-text-link__content">Download free PDF</span></button><a class="ds2-5-text-link ds2-5-text-link--inline 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href="https://independent.academia.edu/KeithPage7">Keith Page</a></div><p class="ds-related-work--metadata ds2-5-body-xs">Proceedings of the National Academy of Sciences, 1996</p><div class="ds-related-work--ctas"><button class="ds2-5-text-link ds2-5-text-link--inline js-swp-download-button" data-signup-modal="{&quot;location&quot;:&quot;wsj-grid-card-download-pdf-modal&quot;,&quot;work_title&quot;:&quot;In situ hybridization analysis of presenilin 1 mRNA in Alzheimer disease and in lesioned rat brain&quot;,&quot;attachmentId&quot;:70718485,&quot;attachmentType&quot;:&quot;pdf&quot;,&quot;work_url&quot;:&quot;https://www.academia.edu/54276801/In_situ_hybridization_analysis_of_presenilin_1_mRNA_in_Alzheimer_disease_and_in_lesioned_rat_brain&quot;,&quot;alternativeTracking&quot;:true}"><span class="material-symbols-outlined" style="font-size: 18px" translate="no">download</span><span class="ds2-5-text-link__content">Download free PDF</span></button><a class="ds2-5-text-link 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href="https://independent.academia.edu/hchi3">h chi</a></div><p class="ds-related-work--metadata ds2-5-body-xs">Human Molecular Genetics, 1996</p><div class="ds-related-work--ctas"><button class="ds2-5-text-link ds2-5-text-link--inline js-swp-download-button" data-signup-modal="{&quot;location&quot;:&quot;wsj-grid-card-download-pdf-modal&quot;,&quot;work_title&quot;:&quot;Alzheimer&#39;s disease associated with mutations in presenilin 2 is rare and variably penetrant&quot;,&quot;attachmentId&quot;:91381675,&quot;attachmentType&quot;:&quot;pdf&quot;,&quot;work_url&quot;:&quot;https://www.academia.edu/87065552/Alzheimers_disease_associated_with_mutations_in_presenilin_2_is_rare_and_variably_penetrant&quot;,&quot;alternativeTracking&quot;:true}"><span class="material-symbols-outlined" style="font-size: 18px" translate="no">download</span><span class="ds2-5-text-link__content">Download free PDF</span></button><a class="ds2-5-text-link ds2-5-text-link--inline 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