Mild SMN missense alleles are only functional in the presence of SMN2 in mammals

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In SMA patients with one or two copies of the Survival Motor Neuron 2 (SMN2) gene there are a number of SMN missense mutations that result in milder-than-predicted SMA phenotypes. These mild SMN missense mutation …"><meta name="keywords" content="pmid:29982416, PMC6140769, doi:10.1093/hmg/ddy251, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't, Chitra C Iyer, Kaitlyn M Corlett, Arthur H M Burghes, Alleles, Animals, Caenorhabditis elegans / genetics, Cell Line, Disease Models, Animal, Drosophila melanogaster / genetics, Exons / genetics, Humans, Mice, Mice, Transgenic, Motor Neurons / metabolism, Motor Neurons / pathology, Muscular Atrophy, Spinal / genetics*, Muscular Atrophy, Spinal / metabolism, Muscular Atrophy, Spinal / pathology, Mutation, Missense, Ribonucleoproteins, Small Nuclear / chemistry, Ribonucleoproteins, Small Nuclear / genetics*, SMN Complex Proteins / chemistry, SMN Complex Proteins / genetics*, Survival of Motor Neuron 2 Protein / chemistry, Survival of Motor Neuron 2 Protein / genetics, Zebrafish / genetics, PubMed Abstract, NIH, NLM, NCBI, National Institutes of Health, National Center for Biotechnology Information, National Library of Medicine, MEDLINE"><meta name="robots" content="index,nofollow,noarchive"><meta property="og:title" content="Mild SMN missense alleles are only functional in the presence of SMN2 in mammals - PubMed"><meta property="og:url" content="https://pubmed.ncbi.nlm.nih.gov/29982416/"><meta property="og:description" content="Spinal muscular atrophy (SMA) is caused by reduced levels of full-length SMN (FL-SMN). In SMA patients with one or two copies of the Survival Motor Neuron 2 (SMN2) gene there are a number of SMN missense mutations that result in milder-than-predicted SMA phenotypes. These mild SMN missense mutation …"><meta property="og:image" content="https://cdn.ncbi.nlm.nih.gov/pubmed/persistent/pubmed-meta-image-v2.jpg"><meta property="og:image:secure_url" content="https://cdn.ncbi.nlm.nih.gov/pubmed/persistent/pubmed-meta-image-v2.jpg"><meta property="og:type" content="website"><meta property="og:site_name" content="PubMed"><meta name="twitter:domain" content="pubmed.ncbi.nlm.nih.gov"><meta name="twitter:card" content="summary_large_image"><meta name="twitter:title" content="Mild SMN missense alleles are only functional in the presence of SMN2 in mammals - PubMed"><meta name="twitter:url" content="https://pubmed.ncbi.nlm.nih.gov/29982416/"><meta name="twitter:description" content="Spinal muscular atrophy (SMA) is caused by reduced levels of full-length SMN (FL-SMN). In SMA patients with one or two copies of the Survival Motor Neuron 2 (SMN2) gene there are a number of SMN missense mutations that result in milder-than-predicted SMA phenotypes. 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new collection</label> </li> <li> <input type="radio" id="collections-action-panel-existing" class="collections-existing" name="collections" value="existing" checked="true" data-ga-category="save_share" data-ga-action="collections" data-ga-label="collections_radio_existing"> <label for="collections-action-panel-existing">Add to an existing collection</label> </li> </ul> </div> <div class="controls-wrapper"> <div class="action-panel-control-wrap new-collections-controls"> <label for="collections-action-panel-add-to-new" class="action-panel-label required-field-asterisk"> Name your collection: </label> <input type="text" name="add-to-new-collection" id="collections-action-panel-add-to-new" class="collections-action-add-to-new" pattern="[^"&=<>\/]*" title="The following characters are not allowed in the Name field: "&=<>/" maxlength="100" data-ga-category="save_share" data-ga-action="create_collection" data-ga-label="non_favorties_collection"> <div class="collections-new-name-too-long usa-input-error-message selection-validation-message"> Name must be less than 100 characters </div> </div> <div class="action-panel-control-wrap existing-collections-controls"> <label for="collections-action-panel-add-to-existing" class="action-panel-label"> Choose a collection: </label> <select id="collections-action-panel-add-to-existing" class="action-panel-selector collections-action-add-to-existing" data-ga-category="save_share" data-ga-action="select_collection" data-ga-label="($('#collections-action-add-to-existing').val() === 'Favorites') ? 'Favorites' : 'non_favorites_collection'"> </select> <div class="collections-retry-load-on-error usa-input-error-message selection-validation-message"> Unable to load your collection due to an error<br> <a href="#">Please try again</a> </div> </div> </div> <div class="action-panel-actions"> <button class="action-panel-submit" type="submit" data-loading-label="Adding..." data-pinger-ignore data-ga-category="save_share" data-ga-action="collections" data-ga-label="add"> Add </button> <button class="action-panel-cancel" aria-label="Close 'Add to Collections' panel" ref="linksrc=close_collections_panel" aria-controls="collections-action-panel" aria-expanded="false" data-ga-category="save_share" data-ga-action="collections" data-ga-label="cancel"> Cancel </button> </div> </form> </div> </div> <div id="bibliography-action-panel" class="bibliography-action-panel action-panel in-progress-dots-panel" aria-hidden="true" data-bibliography-open-panel-enabled="false" data-bibliography-open-panel-url-hash="#open-bibliography-panel"> <div class="inner-wrap"> <h3 class="action-panel-heading"> Add to My Bibliography </h3> <form id="bibliography-action-panel-form" class="bibliography-action-panel-form action-panel-content action-form action-panel-smaller-selectors" data-add-to-bibliography-max-amount="100" data-add-to-bibliography-batch-size="10" data-bibliography-delegates-url="/list-bibliography-delegates/" data-add-to-bibliography-url="/add-to-bibliography/" data-get-article-ids-by-search-url="/get-article-ids-by-search/" data-mybib-root-url="https://www.ncbi.nlm.nih.gov/myncbi/collections/mybibliography/"> <input type="hidden" name="csrfmiddlewaretoken" value="N9bafPMFInd6IYZsVBdr29y42CEbZyf9ii8pmBI7e8mAmm7hWjcwgIWdXvX1Rga4"> <div class="action-panel-control-wrap bibliographies-controls"> <div class="choice-group"> <ul class="bibliographies-action-add radio-group-items"> <li> <input name="bibliography" id="my-bibliography" class="my-bibliography" type="radio" checked/> <label for="my-bibliography">My Bibliography</label> </li> </ul> </div> </div> <div class="bibliographies-retry-load-on-error usa-input-error-message selection-validation-message"> Unable to load your delegates due to an error<br> <a href="#">Please try again</a> </div> <div class="action-panel-actions"> <button class="action-panel-submit" type="submit" data-loading-label="Adding..." data-pinger-ignore> Add </button> <button class="action-panel-cancel" aria-label="Close 'Add to bibliography' panel" ref="linksrc=close_bibliography_panel" aria-controls="bibliography-action-panel" aria-expanded="false" data-ga-category="save_share" data-ga-action="mybib" data-ga-label="cancel"> Cancel </button> </div> </form> </div> </div> <div id="saved-search-action-panel" class="saved-search-action-panel action-panel " aria-hidden="true" data-saved-search-open-panel-enabled="false" data-saved-search-open-panel-url-hash="#open-saved-search-panel"> <div class="inner-wrap"> <h2 class="action-panel-heading"> Your saved search </h2> <form id="saved-search-action-panel-form" class="saved-search-action-panel-form action-panel-content action-form" data-create-saved-search-url="/create-saved-search/" data-try-search-terms-url="/try-search-term/" data-saved-search-root-url="https://www.ncbi.nlm.nih.gov/myncbi/searches/"> <input type="hidden" name="csrfmiddlewaretoken" value="N9bafPMFInd6IYZsVBdr29y42CEbZyf9ii8pmBI7e8mAmm7hWjcwgIWdXvX1Rga4"> <div class="action-panel-control-wrap"> <label for="saved-search-name" class="action-panel-label saved-search-name-label required-field-asterisk"> Name of saved search: </label> <input maxlength="200" type="text" name="saved-search-name" id="saved-search-name" class="saved-search-name" value="" required pattern="[^"&=<>\/]*" title="The following characters are not allowed in the Name field: "&=<>/"> </div> <div class="action-panel-control-wrap"> <label for="saved-search-term" class="action-panel-label required-field-asterisk"> Search terms: </label> <textarea name="saved-search-term" id="saved-search-term" class="saved-search-term" required></textarea> </div> <div class="test-search-term-wrap"> <a href="#" class="try-search-term">Test search terms</a> </div> <div class="choice-group action-panel-extra-margin-top"> <span class="action-panel-label" id="fieldset-label"> Would you like email updates of new search results? </span> <fieldset id="saved-search-alert" aria-describedby="fieldset-label"> <legend class="usa-sr-only">Saved Search Alert Radio Buttons</legend> <ul class="radio-group-items"> <li> <input type="radio" id="saved-search-alert-yes" class="saved-search-alert-yes" name="saved-search-alert" value="yes" checked> <label for="saved-search-alert-yes" class="action-panel-label">Yes</label> </li> <li> <input aria-label="No radio input" type="radio" id="saved-search-alert-no" class="saved-search-alert-no" name="saved-search-alert" value="no"> <label for="saved-search-alert-no" class="action-panel-label">No</label> </li> </ul> </fieldset> </div> <div class="alert-schedule-wrap"> <div class="action-panel-control-wrap"> <label class="action-panel-label"> Email: </label> <span aria-label="Email address" id="saved-search-email" class="action-panel-label"><span class="action-panel-label-bold"></span> (<a class="myncbi-account-settings" href="https://www.ncbi.nlm.nih.gov/account/settings/">change</a>)</span> </div> <div class="action-panel-control-wrap action-panel-extra-margin-top"> <label for="saved-search-frequency" class="action-panel-label"> Frequency: </label> <select id="saved-search-frequency" class="no-border-panel-selector saved-search-frequency"> <option value="monthly">Monthly</option> <option value="weekly">Weekly</option> <option value="daily">Daily</option> </select> </div> <div class="action-panel-control-wrap saved-search-monthly-additional"> <label for="saved-search-monthly-on-day" class="action-panel-label"> Which day? </label> <select id="saved-search-monthly-on-day" class="no-border-panel-selector"> <option value="Sunday">The first Sunday</option> <option value="Monday">The first Monday</option> <option value="Tuesday">The first Tuesday</option> <option value="Wednesday">The first Wednesday</option> <option value="Thursday">The first Thursday</option> <option value="Friday">The first Friday</option> <option value="Saturday">The first Saturday</option> <option value="day">The first day</option> <option value="weekday">The first weekday</option> </select> </div> <div class="action-panel-control-wrap saved-search-weekly-additional"> <label for="saved-search-weekly-on-day" class="action-panel-label"> Which day? </label> <select id="saved-search-weekly-on-day" class="no-border-panel-selector saved-search-weekly-on-day"> <option value="Sunday">Sunday</option> <option value="Monday">Monday</option> <option value="Tuesday">Tuesday</option> <option value="Wednesday">Wednesday</option> <option value="Thursday">Thursday</option> <option value="Friday">Friday</option> <option value="Saturday">Saturday</option> </select> </div> <div class="action-panel-control-wrap"> <label for="saved-search-report" class="action-panel-label"> Report format: </label> <select id="saved-search-report" class="no-border-panel-selector saved-search-report"> <option value="DocSum">Summary</option> <option value="DocSumText">Summary (text)</option> <option value="Abstract">Abstract</option> <option value="AbstractText">Abstract (text)</option> <option value="MEDLINE">PubMed</option> </select> </div> <div class="action-panel-control-wrap"> <label for="saved-search-amount" class="action-panel-label"> Send at most: </label> <select id="saved-search-amount" class="no-border-panel-selector saved-search-amount"> <option value="1">1 item</option> <option value="5" selected>5 items</option> <option value="10">10 items</option> <option value="20">20 items</option> <option value="50">50 items</option> <option value="100">100 items</option> <option value="200">200 items</option> </select> </div> <div> <input type="checkbox" id="saved-search-send-if-no-result" class="saved-search-send-if-no-result" name="saved-search-send-if-no-result"> <label for="saved-search-send-if-no-result" class="action-panel-label smaller-checkbox"> Send even when there aren't any new results </label> </div> <div class="action-panel-control-wrap option-text-in-email-wrap"> <label for="saved-search-email-text" class="action-panel-label"> Optional text in email: </label> <textarea name="saved-search-email-text" id="saved-search-email-text" class="saved-search-email-text"></textarea> </div> </div> <div class="action-panel-actions"> <button class="action-panel-submit" type="submit" data-loading-label="Saving..." data-ga-category="save_share" data-ga-action="alert" data-ga-label="save"> Save </button> <button class="action-panel-cancel" aria-label="Close 'Your saved search' panel" ref="linksrc=close_saved_search_panel" aria-controls="saved-search-action-panel" aria-expanded="false" data-ga-category="save_share" data-ga-action="alert" data-ga-label="cancel"> Cancel </button> </div> </form> </div> </div> <div id="citation-manager-action-panel" class="citation-manager-action-panel action-panel" aria-hidden="true"> <div class="inner-wrap"> <h2 class="action-panel-heading"> Create a file for external citation management software </h2> <form id="citation-manager-action-panel-form" class="action-panel-content action-form" action="/results-export-ids/" data-by-search-action="/results-export-search-data/" data-by-ids-action="/results-export-ids/" method="post" data-by-search-method="post" data-by-ids-method="post"> <input type="hidden" name="csrfmiddlewaretoken" value="N9bafPMFInd6IYZsVBdr29y42CEbZyf9ii8pmBI7e8mAmm7hWjcwgIWdXvX1Rga4"> <input name="results-format" type="hidden" value="pubmed"/> <div class="action-panel-actions"> <button class="action-panel-submit" type="submit" data-loading-label="Sending..." data-ga-category="save_share" data-ga-action="citation_manager" data-ga-label="save"> Create file </button> <button class="action-panel-cancel" aria-label="Close 'Send citations to citation manager' panel" ref="linksrc=close_citation_manager_panel" aria-controls="citation-manager-action-panel" aria-expanded="false" data-ga-category="save_share" data-ga-action="citation_manager" data-ga-label="cancel"> Cancel </button> </div> </form> </div> </div> <div id="rss-action-panel" class="rss-action-panel action-panel " aria-hidden="true"> <div class="inner-wrap"> <h2 class="action-panel-heading"> Your RSS Feed </h2> <form id="rss-action-panel-form" class="rss-action-panel-form action-panel-content action-form" data-create-rss-feed-url="/create-rss-feed-url/" data-search-form-term-value=""> <input type="hidden" name="csrfmiddlewaretoken" value="N9bafPMFInd6IYZsVBdr29y42CEbZyf9ii8pmBI7e8mAmm7hWjcwgIWdXvX1Rga4"> <div class="action-panel-control-wrap"> <label for="rss-name" class="action-panel-label required-field-asterisk"> Name of RSS Feed: </label> <input maxlength="200" placeholder="Name" type="text" name="rss-name" id="rss-name" class="rss-name" value='' required pattern="[^"&=<>\/]*" title="The following characters are not allowed in the Name field: "&=<>/"> </div> <div class="rss-limit-wrap"> <div class="action-panel-control-wrap action-panel-extra-margin-top"> <label for="rss-limit" class="action-panel-label"> Number of items displayed: </label> <select id="rss-limit" class="no-border-panel-selector rss-limit"> <option value="5">5</option> <option value="10">10</option> <option value="15" selected="selected">15</option> <option value="20">20</option> <option value="50">50</option> <option value="100">100</option> </select> </div> </div> <div class="action-panel-actions"> <button class="action-panel-submit" type="submit" data-loading-label="Creating..." data-ga-category="save_share" data-ga-action="alert" data-ga-label="save"> Create RSS </button> <button class="action-panel-cancel" aria-label="Close 'Your RSS' panel" ref="linksrc=close_rss_panel" aria-controls="rss-action-panel" aria-expanded="false" data-ga-category="save_share" data-ga-action="alert" data-ga-label="cancel"> Cancel </button> </div> <div class="action-panel-control-wrap rss-link-copy-wrap"> <label for="rss-link" class="usa-sr-only">RSS Link</label> <input placeholder="Your RSS Feed Link" type="text" name="rss-link" id="rss-link" class="rss-link" title="RSS Link"> <button type="button" disabled class="rss-link-copy-button disabled" data-ga-category="save_share" data-ga-action="rss" data-ga-label="copy"> Copy </button> </div> </form> </div> </div> </div> </div> <div class="article-page" id="article-page" data-article-pmid="29982416"> <aside class="page-sidebar"> <div class="inner-wrap"> <div class="full-text-links"> <div class="full-view"> <h3 class="title"> Full text links </h3> <div class="full-text-links-list"> <a class="link-item dialog-focus" 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data-collections-root-url="https://www.ncbi.nlm.nih.gov/myncbi/collections/"><input type="hidden" name="csrfmiddlewaretoken" value="N9bafPMFInd6IYZsVBdr29y42CEbZyf9ii8pmBI7e8mAmm7hWjcwgIWdXvX1Rga4"><div class="choice-group" role="radiogroup"><ul class="radio-group-items"><li><input type="radio" id="collections-action-dialog-new" class="collections-new" name="collections" value="new" data-ga-category="collections_button" data-ga-action="click" data-ga-label="collections_radio_new"><label for="collections-action-dialog-new">Create a new collection</label></li><li><input type="radio" id="collections-action-dialog-existing" class="collections-existing" name="collections" value="existing" checked="true" data-ga-category="collections_button" data-ga-action="click" data-ga-label="collections_radio_existing"><label for="collections-action-dialog-existing">Add to an existing collection</label></li></ul></div><div class="controls-wrapper"><div class="action-panel-control-wrap new-collections-controls"><label for="collections-action-dialog-add-to-new" class="action-panel-label required-field-asterisk"> Name your collection: </label><input type="text" name="add-to-new-collection" id="collections-action-dialog-add-to-new" class="collections-action-add-to-new" pattern="[^"&=<>\/]*" title="The following characters are not allowed in the Name field: "&=<>/" maxlength="100" data-ga-category="collections_button" data-ga-action="create_collection" data-ga-label="non_favorties_collection"><div class="collections-new-name-too-long usa-input-error-message selection-validation-message"> Name must be less than 100 characters </div></div><div class="action-panel-control-wrap existing-collections-controls"><label for="collections-action-dialog-add-to-existing" class="action-panel-label"> Choose a collection: </label><select id="collections-action-dialog-add-to-existing" class="action-panel-selector collections-action-add-to-existing" data-ga-category="collections_button" data-ga-action="select_collection" data-ga-label="($('.collections-action-add-to-existing').val() === 'Favorites') ? 'Favorites' : 'non_favorites_collection'"></select><div class="collections-retry-load-on-error usa-input-error-message selection-validation-message"> Unable to load your collection due to an error<br><a href="#">Please try again</a></div></div></div><div class="action-panel-actions"><button class="action-panel-submit" type="submit" data-loading-label="Adding..." data-pinger-ignore data-ga-category="collections_button" data-ga-action="click" data-ga-label="add"> Add </button><button class="action-panel-cancel" aria-label="Close 'Add to Collections' panel" ref="linksrc=close_collections_panel" aria-controls="collections-action-panel" aria-expanded="false" data-ga-category="collections_button" data-ga-action="click" data-ga-label="cancel"> Cancel </button></div></form></div></div></div></div><button class="more-actions-button more-actions-dialog-trigger" title="Open dialog with more actions to take" ref="linksrc=more_actions_btn"></button><div class="display-options" 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Pharmacology, The Ohio State University Wexner Medical Center, Columbus, OH, USA." href="#full-view-affiliation-1" ref="linksrc=author_aff"> 1 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Corlett+KM&cauthor_id=29982416" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Kaitlyn M Corlett">Kaitlyn M Corlett</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Biological Chemistry and Pharmacology, The Ohio State University Wexner Medical Center, Columbus, OH, USA." href="#full-view-affiliation-1" ref="linksrc=author_aff"> 1 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Massoni-Laporte+A&cauthor_id=29982416" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Aurélie Massoni-Laporte">Aurélie Massoni-Laporte</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Biological Chemistry and Pharmacology, The Ohio State University Wexner Medical Center, Columbus, OH, USA." href="#full-view-affiliation-1" ref="linksrc=author_aff"> 1 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Duque+SI&cauthor_id=29982416" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Sandra I Duque">Sandra I Duque</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Biological Chemistry and Pharmacology, The Ohio State University Wexner Medical Center, Columbus, OH, USA." href="#full-view-affiliation-1" ref="linksrc=author_aff"> 1 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Madabusi+N&cauthor_id=29982416" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Narasimhan Madabusi">Narasimhan Madabusi</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Biological Chemistry and Pharmacology, The Ohio State University Wexner Medical Center, Columbus, OH, USA." href="#full-view-affiliation-1" ref="linksrc=author_aff"> 1 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Tisdale+S&cauthor_id=29982416" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Sarah Tisdale">Sarah Tisdale</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Center for Motor Neuron Biology and Disease, Columbia University, New York, NY, USA." href="#full-view-affiliation-2" ref="linksrc=author_aff"> 2 </a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Pathology and Cell Biology, Columbia University, New York, NY, USA." href="#full-view-affiliation-3" ref="linksrc=author_aff"> 3 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=McGovern+VL&cauthor_id=29982416" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Vicki L McGovern">Vicki L McGovern</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Biological Chemistry and Pharmacology, The Ohio State University Wexner Medical Center, Columbus, OH, USA." href="#full-view-affiliation-1" ref="linksrc=author_aff"> 1 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Le+TT&cauthor_id=29982416" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Thanh T Le">Thanh T Le</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Biological Chemistry and Pharmacology, The Ohio State University Wexner Medical Center, Columbus, OH, USA." href="#full-view-affiliation-1" ref="linksrc=author_aff"> 1 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Zaworski+PG&cauthor_id=29982416" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Phillip G Zaworski">Phillip G Zaworski</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="PharmOptima, LLC, Portage, MI, USA." href="#full-view-affiliation-4" ref="linksrc=author_aff"> 4 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Arnold+WD&cauthor_id=29982416" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="W David Arnold">W David Arnold</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Neurology, The Ohio State University Wexner Medical Center, Columbus, OH, USA." href="#full-view-affiliation-5" ref="linksrc=author_aff"> 5 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Pellizzoni+L&cauthor_id=29982416" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Livio Pellizzoni">Livio Pellizzoni</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Center for Motor Neuron Biology and Disease, Columbia University, New York, NY, USA." href="#full-view-affiliation-2" ref="linksrc=author_aff"> 2 </a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Pathology and Cell Biology, Columbia University, New York, NY, USA." href="#full-view-affiliation-3" ref="linksrc=author_aff"> 3 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Burghes+AHM&cauthor_id=29982416" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Arthur H M Burghes">Arthur H M Burghes</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Biological Chemistry and Pharmacology, The Ohio State University Wexner Medical Center, Columbus, OH, USA." href="#full-view-affiliation-1" ref="linksrc=author_aff"> 1 </a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Neurology, The Ohio State University Wexner Medical Center, Columbus, OH, USA." href="#full-view-affiliation-5" ref="linksrc=author_aff"> 5 </a></sup></span> </div> </div> </div> <div class="short-article-details"> Affiliations <button class="more-details" id="toggle-authors" data-alt-text="Collapse" aria-controls="expanded-authors" aria-expanded="false" data-pinger-ignore data-fetch-url="/29982416/long-authors/" data-id-prefix=""> <span class="title"> Expand </span> </button> </div> <div class="extended-article-details" id="expanded-authors" aria-hidden="true"> <div class="expanded-authors" id="full-view-expanded-authors"> <div class="affiliations"> <h3 class="title"> Affiliations </h3> <ul class="item-list"> <li data-affiliation-id="full-view-affiliation-1" id="full-view-affiliation-1" ><sup class="key">1</sup> Department of Biological Chemistry and Pharmacology, The Ohio State University Wexner Medical Center, Columbus, OH, USA.</li> <li data-affiliation-id="full-view-affiliation-2" id="full-view-affiliation-2" ><sup class="key">2</sup> Center for Motor Neuron Biology and Disease, Columbia University, New York, NY, USA.</li> <li data-affiliation-id="full-view-affiliation-3" id="full-view-affiliation-3" ><sup class="key">3</sup> Department of Pathology and Cell Biology, Columbia University, New York, NY, USA.</li> <li data-affiliation-id="full-view-affiliation-4" id="full-view-affiliation-4" ><sup class="key">4</sup> PharmOptima, LLC, Portage, MI, USA.</li> <li data-affiliation-id="full-view-affiliation-5" id="full-view-affiliation-5" ><sup class="key">5</sup> Department of Neurology, The Ohio State University Wexner Medical Center, Columbus, OH, USA.</li> </ul> </div> </div> </div> <ul class="identifiers" id="full-view-identifiers"> <li> <span class="identifier pubmed"> <span class="id-label"> PMID: </span> <strong class="current-id" title="PubMed ID">29982416</strong> </span> </li> <li> <span class="identifier pmc"> <span class="id-label"> PMCID: </span> <a class="id-link" target="_blank" rel="noopener" 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class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Corlett+KM&cauthor_id=29982416" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Kaitlyn M Corlett">Kaitlyn M Corlett</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Biological Chemistry and Pharmacology, The Ohio State University Wexner Medical Center, Columbus, OH, USA." href="#short-view-affiliation-1" ref="linksrc=author_aff"> 1 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Massoni-Laporte+A&cauthor_id=29982416" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Aurélie Massoni-Laporte">Aurélie Massoni-Laporte</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Biological Chemistry and Pharmacology, The Ohio State University Wexner Medical Center, Columbus, OH, USA." href="#short-view-affiliation-1" ref="linksrc=author_aff"> 1 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Duque+SI&cauthor_id=29982416" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Sandra I Duque">Sandra I Duque</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Biological Chemistry and Pharmacology, The Ohio State University Wexner Medical Center, Columbus, OH, USA." href="#short-view-affiliation-1" ref="linksrc=author_aff"> 1 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Madabusi+N&cauthor_id=29982416" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Narasimhan Madabusi">Narasimhan Madabusi</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Biological Chemistry and Pharmacology, The Ohio State University Wexner Medical Center, Columbus, OH, USA." href="#short-view-affiliation-1" ref="linksrc=author_aff"> 1 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Tisdale+S&cauthor_id=29982416" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Sarah Tisdale">Sarah Tisdale</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Center for Motor Neuron Biology and Disease, Columbia University, New York, NY, USA." href="#short-view-affiliation-2" ref="linksrc=author_aff"> 2 </a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Pathology and Cell Biology, Columbia University, New York, NY, USA." href="#short-view-affiliation-3" ref="linksrc=author_aff"> 3 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=McGovern+VL&cauthor_id=29982416" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Vicki L McGovern">Vicki L McGovern</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Biological Chemistry and Pharmacology, The Ohio State University Wexner Medical Center, Columbus, OH, USA." href="#short-view-affiliation-1" ref="linksrc=author_aff"> 1 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Le+TT&cauthor_id=29982416" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Thanh T Le">Thanh T Le</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Biological Chemistry and Pharmacology, The Ohio State University Wexner Medical Center, Columbus, OH, USA." href="#short-view-affiliation-1" ref="linksrc=author_aff"> 1 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Zaworski+PG&cauthor_id=29982416" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Phillip G Zaworski">Phillip G Zaworski</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="PharmOptima, LLC, Portage, MI, USA." href="#short-view-affiliation-4" ref="linksrc=author_aff"> 4 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Arnold+WD&cauthor_id=29982416" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="W David Arnold">W David Arnold</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Neurology, The Ohio State University Wexner Medical Center, Columbus, OH, USA." href="#short-view-affiliation-5" ref="linksrc=author_aff"> 5 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Pellizzoni+L&cauthor_id=29982416" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Livio Pellizzoni">Livio Pellizzoni</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Center for Motor Neuron Biology and Disease, Columbia University, New York, NY, USA." href="#short-view-affiliation-2" ref="linksrc=author_aff"> 2 </a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Pathology and Cell Biology, Columbia University, New York, NY, USA." href="#short-view-affiliation-3" ref="linksrc=author_aff"> 3 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Burghes+AHM&cauthor_id=29982416" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Arthur H M Burghes">Arthur H M Burghes</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Biological Chemistry and Pharmacology, The Ohio State University Wexner Medical Center, Columbus, OH, USA." href="#short-view-affiliation-1" ref="linksrc=author_aff"> 1 </a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Neurology, The Ohio State University Wexner Medical Center, Columbus, OH, USA." href="#short-view-affiliation-5" ref="linksrc=author_aff"> 5 </a></sup></span> </div> </div> <div class="affiliations"> <h3 class="title"> Affiliations </h3> <ul class="item-list"> <li data-affiliation-id="short-view-affiliation-1" id="short-view-affiliation-1" ><sup class="key">1</sup> Department of Biological Chemistry and Pharmacology, The Ohio State University Wexner Medical Center, Columbus, OH, USA.</li> <li data-affiliation-id="short-view-affiliation-2" id="short-view-affiliation-2" ><sup class="key">2</sup> Center for Motor Neuron Biology and Disease, Columbia University, New York, NY, USA.</li> <li data-affiliation-id="short-view-affiliation-3" id="short-view-affiliation-3" ><sup class="key">3</sup> Department of Pathology and Cell Biology, Columbia University, New York, NY, USA.</li> <li data-affiliation-id="short-view-affiliation-4" id="short-view-affiliation-4" ><sup class="key">4</sup> PharmOptima, LLC, Portage, MI, USA.</li> <li data-affiliation-id="short-view-affiliation-5" id="short-view-affiliation-5" ><sup class="key">5</sup> Department of Neurology, The Ohio State University Wexner Medical Center, Columbus, OH, USA.</li> </ul> </div> </div> <ul class="identifiers" id="short-view-identifiers"> <li> <span class="identifier pubmed"> <span class="id-label"> PMID: </span> <strong class="current-id" title="PubMed ID">29982416</strong> </span> </li> <li> <span class="identifier pmc"> <span class="id-label"> PMCID: </span> <a class="id-link" target="_blank" rel="noopener" ref="linksrc=article_id_link&article_id=PMC6140769&id_type=PMC" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC6140769/" data-ga-category="full_text" data-ga-action="PMCID" > PMC6140769 </a> </span> </li> <li> <span class="identifier doi"> <span class="id-label"> DOI: </span> <a class="id-link" target="_blank" rel="noopener" ref="linksrc=article_id_link&article_id=10.1093/hmg/ddy251&id_type=DOI" href="https://doi.org/10.1093/hmg/ddy251" data-ga-category="full_text" data-ga-action="DOI" > 10.1093/hmg/ddy251 </a> </span> </li> </ul> <div class="in-clipboard-label " hidden> Item in Clipboard </div> </div> </div> </header> <div class="actions-buttons inline"><div class="inner-wrap"><button class="full-text-links-button full-text-links-dialog-trigger" title="Open dialog with full text links" ref="linksrc=full_text_links"> Full text links </button><button class="citation-button citation-dialog-trigger" aria-label="Open dialog with citation text in different styles" data-ga-category="save_share" data-ga-action="cite" data-ga-label="open" data-all-citations-url="/29982416/citations/" data-citation-style="nlm" data-pubmed-format-link="/29982416/export/"><span class="button-label">Cite</span></button><button class="more-actions-button more-actions-dialog-trigger" title="Open dialog with more actions to take" ref="linksrc=more_actions_btn"></button><div class="display-options" data-format-key="format" data-default-format-value="abstract" data-current-format-value="abstract" role="region"><button class="trigger usa-button" title="Change format" data-ga-category="display_options" data-ga-action="display_options_dialog"><span class="button-label">Display options</span></button><div class="dropdown" hidden><div class="title"> Display options </div><div class="content"><div class="format-container"><span class="option-label"> Format </span><select name="format" data-initial-value="abstract" aria-label="Display format" id="inline-actions-display-format"><option value="abstract">Abstract</option><option value="pubmed">PubMed</option><option value="pmid">PMID</option></select></div></div></div></div></div></div> <div class="abstract" id="abstract"> <h2 class="title"> Abstract </h2> <div class="abstract-content selected" id="eng-abstract"> <p> Spinal muscular atrophy (SMA) is caused by reduced levels of full-length SMN (FL-SMN). In SMA patients with one or two copies of the Survival Motor Neuron 2 (SMN2) gene there are a number of SMN missense mutations that result in milder-than-predicted SMA phenotypes. These mild SMN missense mutation alleles are often assumed to have partial function. However, it is important to consider the contribution of FL-SMN as these missense alleles never occur in the absence of SMN2. We propose that these patients contain a partially functional oligomeric SMN complex consisting of FL-SMN from SMN2 and mutant SMN protein produced from the missense allele. Here we show that mild SMN missense mutations SMND44V, SMNT74I or SMNQ282A alone do not rescue mice lacking wild-type FL-SMN. Thus, missense mutations are not functional in the absence of FL-SMN. In contrast, when the same mild SMN missense mutations are expressed in a mouse containing two SMN2 copies, functional SMN complexes are formed with the small amount of wild-type FL-SMN produced by SMN2 and the SMA phenotype is completely rescued. This contrasts with SMN missense alleles when studied in C. elegans, Drosophila and zebrafish. Here we demonstrate that the heteromeric SMN complex formed with FL-SMN is functional and sufficient to rescue small nuclear ribonucleoprotein assembly, motor neuron function and rescue the SMA mice. We conclude that mild SMN missense alleles are not partially functional but rather they are completely non-functional in the absence of wild-type SMN in mammals. </p> </div> </div> <p class="disclaimer" id="disclaimer"> <a href="/disclaimer/" target="_blank" ga_category="literature_resources" ga_action="disclaimer_link" ga_label="under_abstract">PubMed Disclaimer</a> </p> <div class="figures" id="figures"> <h2 class="title"> Figures </h2> <div class="figures-list" id="slides-container" itemscope itemtype="http://schema.org/ImageGallery"> <figure class="figure-item " itemscope itemtype="http://schema.org/ImageObject" itemprop="associatedMedia" data-slide-index="0" data-label-slug="figure-1"> <a class="figure-link" href="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dd0b/6140769/9a91c05d8cd5/ddy251f1.jpg" itemprop="contentUrl" aria-describedby="figure-caption-0" role="button" data-image-width="700" data-image-height="155" data-image-alt="Figure 1" data-pmc-id="PMC6140769" data-figure-id="f1"> <img class="figure-thumb" itemprop="thumbnail" id="article-image-0" src="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dd0b/6140769/9f523ea0e0a7/ddy251f1.gif" alt="Figure 1" /> </a> <meta itemprop="width" itemtype="http://schema.org/ImageObject" content="700"> <meta itemprop="height" itemtype="http://schema.org/ImageObject" content="155"> <div class="figure-caption figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="caption" aria-hidden="true"> <div class="caption-wrap"> <strong class="figure-label"> <p> Figure 1 </p> </strong> <div class="figure-caption-contents"><p> Diagrammatic representation of human SMN… </p></div> </div> </div> <div class="figure-caption-medium figure-caption-text" aria-hidden="true"> <strong class="figure-label"> <p> Figure 1 </p> </strong> <div class="figure-caption-contents"><p> Diagrammatic representation of human SMN complementary DNA (cDNA) showing locations of exons and… </p></div> </div> <figcaption id="figure-caption-0" class="figure-caption-full figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="description"> <strong class="figure-label"> Figure 1 </strong> <div class="figure-caption-contents">Diagrammatic representation of human SMN complementary DNA (cDNA) showing locations of exons and protein domains. The location of the missense mutations used in this study are indicated. Note that exon 8, the untranslated region represented as a white box, is not drawn to scale. (Self-assoc. = self-association domain).</div> </figcaption> </figure> <figure class="figure-item " itemscope itemtype="http://schema.org/ImageObject" itemprop="associatedMedia" data-slide-index="1" data-label-slug="figure-2"> <a class="figure-link" href="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dd0b/6140769/85bdeed5064c/ddy251f2.jpg" itemprop="contentUrl" aria-describedby="figure-caption-1" role="button" data-image-width="426" data-image-height="341" data-image-alt="Figure 2" data-pmc-id="PMC6140769" data-figure-id="f2"> <img class="figure-thumb" itemprop="thumbnail" id="article-image-1" src="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dd0b/6140769/d5ec45a49028/ddy251f2.gif" alt="Figure 2" /> </a> <meta itemprop="width" itemtype="http://schema.org/ImageObject" content="426"> <meta itemprop="height" itemtype="http://schema.org/ImageObject" content="341"> <div class="figure-caption figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="caption" aria-hidden="true"> <div class="caption-wrap"> <strong class="figure-label"> <p> Figure 2 </p> </strong> <div class="figure-caption-contents"><p> Quantification of FL-SMN cDNA using… </p></div> </div> </div> <div class="figure-caption-medium figure-caption-text" aria-hidden="true"> <strong class="figure-label"> <p> Figure 2 </p> </strong> <div class="figure-caption-contents"><p> Quantification of FL-SMN cDNA using ddPCR indicates a significant increase in SMN expression… </p></div> </div> <figcaption id="figure-caption-1" class="figure-caption-full figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="description"> <strong class="figure-label"> Figure 2 </strong> <div class="figure-caption-contents">Quantification of FL-SMN cDNA using ddPCR indicates a significant increase in SMN expression in transgenic SMN missense lines as compared to the SMNΔ7 SMA mice at 4 days of age. SMN cDNA isolated from total spinal cord RNA was measured in the SMN missense lines. Expression of the housekeeping gene <i>YWHAZ12</i> was used to normalize the amount of cDNA in the reaction. SMNQ282A and SMND44V mice exhibited an ∼3-fold increase in SMN expression as compared to SMNΔ7 SMA mice (69.9 ± 5.6 RFU and 66.7 ± 6.5 RFU versus 20.5 ± 3 RFU). SMN expression in the SMNT274I mice was 6-fold greater (126.3 ± 12 RFU) than the expression in SMNΔ7 SMA mice (<i>Smn<sup>−/−</sup>; SMN2<sup>+/+</sup>;</i> SMN∆7<sup>+/+</sup>). SMNI116F mice displayed the greatest amount of SMN expression with an ∼15-fold increase over SMN∆7 SMA mice (317.7 ± 38 RFU). There is equivalent expression of FL-SMN in SMN∆7 SMA and SMN∆7 heterozygous control mice (<i>Smn</i><sup>+/−</sup>; <i>SMN2</i><sup>+/+</sup>; SMNΔ7<sup>+/+</sup>). (<i>n =</i> 4 in each group, RFU = relative fluorescence units, error bars = standard error of mean (SEM), <sup>***</sup><i>P</i> < 0.001, <sup>*</sup><i>P</i> < 0.05).</div> </figcaption> </figure> <figure class="figure-item " itemscope itemtype="http://schema.org/ImageObject" itemprop="associatedMedia" data-slide-index="2" data-label-slug="figure-3"> <a class="figure-link" href="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dd0b/6140769/9cb4bf8759c6/ddy251f3.jpg" itemprop="contentUrl" aria-describedby="figure-caption-2" role="button" data-image-width="751" data-image-height="323" data-image-alt="Figure 3" data-pmc-id="PMC6140769" data-figure-id="f3"> <img class="figure-thumb" itemprop="thumbnail" id="article-image-2" src="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dd0b/6140769/3b0019bbb9e0/ddy251f3.gif" alt="Figure 3" /> </a> <meta itemprop="width" itemtype="http://schema.org/ImageObject" content="751"> <meta itemprop="height" itemtype="http://schema.org/ImageObject" content="323"> <div class="figure-caption figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="caption" aria-hidden="true"> <div class="caption-wrap"> <strong class="figure-label"> <p> Figure 3 </p> </strong> <div class="figure-caption-contents"><p> Quantification of SMN protein measured… </p></div> </div> </div> <div class="figure-caption-medium figure-caption-text" aria-hidden="true"> <strong class="figure-label"> <p> Figure 3 </p> </strong> <div class="figure-caption-contents"><p> Quantification of SMN protein measured by ELISA indicates a significant increase in protein… </p></div> </div> <figcaption id="figure-caption-2" class="figure-caption-full figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="description"> <strong class="figure-label"> Figure 3 </strong> <div class="figure-caption-contents">Quantification of SMN protein measured by ELISA indicates a significant increase in protein expressed by the mild missense mutation alleles as compared to the SMNΔ7 SMA mice at 4 days of age. <b>(A)</b> SMN protein in brain tissue was increased ∼3-fold in SMNQ282A (14567.5 ± 905.3 pg/mg) and ∼2-fold in SMNT274I (11279.0 ± 337.3 pg/mg) versus SMNΔ7 SMA (4156.7 ± 301.1 pg/mg) mice. SMND44V expression was ∼1.5-fold increased (6509.3 ± 1135.6 pg/mg) and SMNI116F was less than the SMN∆7 SMA mice due to protein instability (1933.2 ± 140.2 pg/mg). SMNΔ7 heterozygous control mice had the greatest SMN protein expression (18266.4 ± 294.0 pg/mg) (<i>n</i> = 3 mice for each group). <b>(B)</b> SMN protein in spinal cord tissue was also increased in each of the SMN missense alleles. There was a greater than ∼6-fold increase in SMNQ282A (14181.3 ± 820.8 pg/mg, n = 3) and greater than ∼4-fold increase in SMNT274I (10779.6 ± 1588.9 pg/mg, n = 3) as compared to SMNΔ7 SMA mice (2312.8 ± 727.8 pg/mg, n = 2). SMND44V showed a more modest ∼1.5-fold increase (4269.6 ± 1681.0 pg/mg, n = 2). SMNΔ7 heterozygous control mice had the greatest amount of SMN protein expression (15475.5 ± 676.6 pg/mg, <i>n</i> = 3). (Error bars = SEM, <sup>***</sup><i>P</i> < 0.001, <sup>**</sup><i>P</i> < 0.01, <sup>*</sup><i>P</i> < 0.05).</div> </figcaption> </figure> <figure class="figure-item " itemscope itemtype="http://schema.org/ImageObject" itemprop="associatedMedia" data-slide-index="3" data-label-slug="figure-4"> <a class="figure-link" href="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dd0b/6140769/40bb4e005890/ddy251f4.jpg" itemprop="contentUrl" aria-describedby="figure-caption-3" role="button" data-image-width="500" data-image-height="532" data-image-alt="Figure 4" data-pmc-id="PMC6140769" data-figure-id="f4"> <img class="figure-thumb" itemprop="thumbnail" id="article-image-3" src="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dd0b/6140769/130cf0a8b57c/ddy251f4.gif" alt="Figure 4" /> </a> <meta itemprop="width" itemtype="http://schema.org/ImageObject" content="500"> <meta itemprop="height" itemtype="http://schema.org/ImageObject" content="532"> <div class="figure-caption figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="caption" aria-hidden="true"> <div class="caption-wrap"> <strong class="figure-label"> <p> Figure 4 </p> </strong> <div class="figure-caption-contents"><p> Increased snRNP assembly activity in… </p></div> </div> </div> <div class="figure-caption-medium figure-caption-text" aria-hidden="true"> <strong class="figure-label"> <p> Figure 4 </p> </strong> <div class="figure-caption-contents"><p> Increased snRNP assembly activity in transgenic mice containing mild SMN missense mutation alleles.… </p></div> </div> <figcaption id="figure-caption-3" class="figure-caption-full figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="description"> <strong class="figure-label"> Figure 4 </strong> <div class="figure-caption-contents">Increased snRNP assembly activity in transgenic mice containing mild SMN missense mutation alleles. <b>(A)</b> Western blot analysis shows the amount of SMN protein in the extract that was used for snRNP assembly. The amount of assembled U1 snRNA isolated with the anti-SmB antibody is also shown. The amount of captured SMN protein in the SMNI116F missense mutation line was similar to that isolated from the SMN∆7 SMA mice. <b>(B)</b> The snRNP assembly in total spinal cord tissue from each missense mutation line was assessed to determine the activity of the SMN complex. SMNQ282A and SMND44V showed an ∼2.6-fold increase while SMNT274I showed an ∼3-fold increase in snRNP assembly activity as compared to SMNΔ7 SMA mice (<i>n =</i> 3 for each group). The relative snRNP assembly in SMNI116F was similar to SMNΔ7 SMA mice (<i>n =</i> 3). SMNΔ7 SMA mice (<i>n =</i> 6) had ∼7-fold less snRNP assembly than heterozygous control mice (<i>Smn</i><sup>+/−</sup>; <i>SMN2</i><sup>+/+</sup>; SMNΔ7<sup>+/+</sup>) (<i>n =</i> 6). The activity of snRNP assembly in the heterozygous control mice was fixed at 1 and all other values were calculated accordingly. (Error bars = SEM, <sup>***</sup><i>P</i> < 0.001, <sup>**</sup><i>P</i> < 0.01).</div> </figcaption> </figure> <figure class="figure-item " itemscope itemtype="http://schema.org/ImageObject" itemprop="associatedMedia" data-slide-index="4" data-label-slug="figure-5"> <a class="figure-link" href="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dd0b/6140769/5a32cb7ae5c5/ddy251f5.jpg" itemprop="contentUrl" aria-describedby="figure-caption-4" role="button" data-image-width="484" data-image-height="865" data-image-alt="Figure 5" data-pmc-id="PMC6140769" data-figure-id="f5"> <img class="figure-thumb" itemprop="thumbnail" id="article-image-4" src="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dd0b/6140769/2bc5e4a70c40/ddy251f5.gif" alt="Figure 5" /> </a> <meta itemprop="width" itemtype="http://schema.org/ImageObject" content="484"> <meta itemprop="height" itemtype="http://schema.org/ImageObject" content="865"> <div class="figure-caption figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="caption" aria-hidden="true"> <div class="caption-wrap"> <strong class="figure-label"> <p> Figure 5 </p> </strong> <div class="figure-caption-contents"><p> Weight and survival are normal… </p></div> </div> </div> <div class="figure-caption-medium figure-caption-text" aria-hidden="true"> <strong class="figure-label"> <p> Figure 5 </p> </strong> <div class="figure-caption-contents"><p> Weight and survival are normal in transgenic mice with mild SMN missense mutation… </p></div> </div> <figcaption id="figure-caption-4" class="figure-caption-full figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="description"> <strong class="figure-label"> Figure 5 </strong> <div class="figure-caption-contents">Weight and survival are normal in transgenic mice with mild SMN missense mutation alleles. Expression of SMNQ282A, SMNT274I or SMND44V in the <i>Smn</i><sup>−/−</sup>; <i>SMN2</i><sup>+/+</sup> background completely rescued the weight of the mice (<b>A</b>–<b>F</b>, <i>n =</i> 14, <i>n =</i> 19 and <i>n =</i> 8, respectively). The severe allele SMNI116F does not rescue the (<b>G</b>) weight or (<b>H</b>) survival of severe SMA mice (<i>n =</i> 10). The <i>Smn</i><sup>−/−</sup>; <i>SMN2</i><sup>+/+</sup>; SMNI116F<sup>+/+</sup> mice survive an average of 6.4 ± 1 days as compared to SMN∆7 SMA mice (<i>Smn</i><sup>−/−</sup>; <i>SMN2</i><sup>+/+</sup>; SMNΔ7<sup>+/+</sup>, <i>n =</i> 86) that survive 14.1 ± 0.1 days. (<b>B</b>, <b>D</b>, <b>F</b>, <b>H</b>) Control mice are defined as mice that contain the missense allele transgene and are heterozygous for mouse <i>Smn</i> (<i>Smn</i><sup>+/−</sup>; <i>SMN2</i><sup>+/+</sup>; SMN missense transgene<sup>+/+</sup>).</div> </figcaption> </figure> <figure class="figure-item " itemscope itemtype="http://schema.org/ImageObject" itemprop="associatedMedia" data-slide-index="5" data-label-slug="figure-6"> <a class="figure-link" href="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dd0b/6140769/8b967373fd6a/ddy251f6.jpg" itemprop="contentUrl" aria-describedby="figure-caption-5" role="button" data-image-width="625" data-image-height="443" data-image-alt="Figure 6" data-pmc-id="PMC6140769" data-figure-id="f6"> <img class="figure-thumb" itemprop="thumbnail" id="article-image-5" src="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dd0b/6140769/cfa37f702496/ddy251f6.gif" alt="Figure 6" /> </a> <meta itemprop="width" itemtype="http://schema.org/ImageObject" content="625"> <meta itemprop="height" itemtype="http://schema.org/ImageObject" content="443"> <div class="figure-caption figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="caption" aria-hidden="true"> <div class="caption-wrap"> <strong class="figure-label"> <p> Figure 6 </p> </strong> <div class="figure-caption-contents"><p> Motor unit function is completely… </p></div> </div> </div> <div class="figure-caption-medium figure-caption-text" aria-hidden="true"> <strong class="figure-label"> <p> Figure 6 </p> </strong> <div class="figure-caption-contents"><p> Motor unit function is completely rescued in mice containing mild SMN missense alleles… </p></div> </div> <figcaption id="figure-caption-5" class="figure-caption-full figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="description"> <strong class="figure-label"> Figure 6 </strong> <div class="figure-caption-contents">Motor unit function is completely rescued in mice containing mild SMN missense alleles and two copies of <i>SMN2.</i> Electrophysiological studies of motor function at 100 days of age show no significant difference motor function in the missense allele lines as compared to SMN∆7 heterozygous control mice. <b>(A)</b> CMAP in the missense allele lines (SMNQ282A: 43.1 ± 1.6 mV, SMNT274I: 34.9 ± 2.0 mV, SMND44V: 36.7 ± 2.7 mV, <i>n =</i> 10 for each group) were not different from the heterozygous SMN∆7 control mice (<i>SMN2<sup>+/+</sup>, Smn<sup>+/−</sup>, </i>SMN∆7<sup>+/+</sup><i>),</i> (39.8 ± 1.1 mV, <i>n =</i> 10<i>, P =</i> 0.1) <b>(B)</b> The SMUP were no different between the missense allele lines and the control. (SMNQ282A: 253.7 ± 23.8 μV, SMNT274I: 215.3 ± 21.9 μV, SMND44V: 286.8 ± 29.0 μV, as compared to Control: 235.2 ± 16.1 μV, <i>n =</i> 10 for each group<i>, P =</i> 0.2) <b>(C)</b> MUNE (SMNQ282A: 308.2 ± 14.67, SMNT274I: 291.43 ± 20.96, SMND44V: 255 ± 24.93, <i>n =</i> 10 for each group) were also not significantly different from heterozygous SMN∆7 control mice (Control: 314.67 ± 26.67, <i>n =</i> 10<i>,P =</i> 0.3). SMNΔ7 SMA mice cannot be used as a control in this study because their average survival is 14 days. (Error bars = SEM).</div> </figcaption> </figure> <figure class="figure-item tail" itemscope itemtype="http://schema.org/ImageObject" itemprop="associatedMedia" data-slide-index="6" data-label-slug="figure-7"> <a class="figure-link" href="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dd0b/6140769/8839c18156cc/ddy251f7.jpg" itemprop="contentUrl" aria-describedby="figure-caption-6" role="button" data-image-width="750" data-image-height="251" data-image-alt="Figure 7" data-pmc-id="PMC6140769" data-figure-id="f7"> <img class="figure-thumb" itemprop="thumbnail" id="article-image-6" src="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dd0b/6140769/90f76a729d68/ddy251f7.gif" alt="Figure 7" /> </a> <meta itemprop="width" itemtype="http://schema.org/ImageObject" content="750"> <meta itemprop="height" itemtype="http://schema.org/ImageObject" content="251"> <div class="figure-caption figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="caption" aria-hidden="true"> <div class="caption-wrap"> <strong class="figure-label"> <p> Figure 7 </p> </strong> <div class="figure-caption-contents"><p> Model of SMN oligomerization and… </p></div> </div> </div> <div class="figure-caption-medium figure-caption-text" aria-hidden="true"> <strong class="figure-label"> <p> Figure 7 </p> </strong> <div class="figure-caption-contents"><p> Model of SMN oligomerization and function in the presence of SMN missense mutation… </p></div> </div> <figcaption id="figure-caption-6" class="figure-caption-full figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="description"> <strong class="figure-label"> Figure 7 </strong> <div class="figure-caption-contents">Model of SMN oligomerization and function in the presence of SMN missense mutation alleles. SMN missense mutations on their own cannot form a functional complex and fail to rescue <i>Smn</i><sup>−/−</sup>; <i>SMN2</i><sup>+/+</sup> mice. In the presence of wild-type FL-SMN however, the missense mutation protein can complement the wild-type FL-SMN and oligomerize. Thus, the snRNP assembly as well as the survival of the mice is rescued. <b>(A)</b> An SMN homomeric complex is incapable of snRNP assembly and cannot rescue SMA mice. <b>(B)</b> Upon the addition of FL-SMN protein from <i>SMN2</i>, a heteromeric SMN complex is formed that can completely rescue the biochemical function of snRNP assembly and the survival of the mice.</div> </figcaption> </figure> </div> <div class="see-all actions-bar"> <button class="show-more" aria-controls="slides-container" data-ga-category="figure" data-ga-action="show_all"> All figures (7) </button> </div>  <div class="pswp figures-dialog" id="figures-dialog" tabindex="-1" role="dialog" aria-hidden="true" data-image-gallery-uid="article-figures" aria-label="Figures Dialog">  <div class="pswp__bg"></div>  <div class="pswp__scroll-wrap">  <div class="pswp__container"> <div class="pswp__item"></div> <div class="pswp__item"></div> <div class="pswp__item"></div> </div>  <div class="pswp__ui pswp__ui--hidden"> <div class="pswp__top-bar">  <div class="pswp__counter"></div> <button class="pswp__button pswp__button--close" title="Close (Esc)"></button> <button class="pswp__button pswp__button--share" title="Share"></button> <button class="pswp__button pswp__button--fs" title="Toggle fullscreen"></button> <button class="pswp__button pswp__button--zoom" title="Zoom in/out"></button>   <div class="pswp__preloader"> <div class="pswp__preloader__icn"> <div class="pswp__preloader__cut"> <div class="pswp__preloader__donut"></div> </div> </div> </div> </div> <div class="pswp__share-modal pswp__share-modal--hidden pswp__single-tap"> <div class="pswp__share-tooltip"></div> </div> <button class="pswp__button pswp__button--arrow--left" title="Previous (arrow left)"> </button> <button class="pswp__button pswp__button--arrow--right" title="Next (arrow right)"> </button> <div class="pswp__caption"> <div class="pswp__caption__center"></div> </div> </div> </div> </div> <div class="figure-dialog-caption"> <div class="figure-caption-link-container"> <a class="figure-caption-link" href="#">See this image and copyright information in PMC</a> </div> <div class="figure-caption-center" data-expand-title="click to show full caption" data-collapse-title="click to hide full caption"> </div> <button class="figure-caption-toggle-btn" aria-label="show full caption" data-expand-text="show full caption" data-collapse-text="hide full caption">  </button> </div> </div> <div class="similar-articles" id="similar"> <h2 class="title"> Similar articles </h2> <ul class="articles-list" id="similar-articles-list"> <li class="full-docsum"> <div class="docsum-content" style="display:inline;"> <a class="docsum-title" href="/33084884/" ref="article_id=33084884&linksrc=similar_articles_link&ordinalpos=1" data-ga-category="similar_article" data-ga-action="33084884" data-ga-label=""> Intragenic complementation of amino and carboxy terminal SMN missense mutations can rescue Smn null mice. </a> <div class="docsum-citation full-citation"> <span class="docsum-authors full-authors">McGovern VL, Kray KM, Arnold WD, Duque SI, Iyer CC, Massoni-Laporte A, Workman E, Patel A, Battle DJ, Burghes AHM.</span> <span class="docsum-authors short-authors">McGovern VL, et al.</span> <span class="docsum-journal-citation full-journal-citation">Hum Mol Genet. 2020 Nov 1;29(21):3493-3503. doi: 10.1093/hmg/ddaa235.</span> <span class="docsum-journal-citation short-journal-citation">Hum Mol Genet. 2020.</span> <span class="citation-part">PMID: <span class="docsum-pmid">33084884</span></span> <span class="free-resources spaced-citation-item citation-part">Free PMC article.</span> </div> </div> </li> <li class="full-docsum"> <div class="docsum-content" style="display:inline;"> <a class="docsum-title" href="/19329542/" ref="article_id=19329542&linksrc=similar_articles_link&ordinalpos=2" data-ga-category="similar_article" data-ga-action="19329542" data-ga-label=""> A SMN missense mutation complements SMN2 restoring snRNPs and rescuing SMA mice. </a> <div class="docsum-citation full-citation"> <span class="docsum-authors full-authors">Workman E, Saieva L, Carrel TL, Crawford TO, Liu D, Lutz C, Beattie CE, Pellizzoni L, Burghes AH.</span> <span class="docsum-authors short-authors">Workman E, et al.</span> <span class="docsum-journal-citation full-journal-citation">Hum Mol Genet. 2009 Jun 15;18(12):2215-29. doi: 10.1093/hmg/ddp157. 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Epub 2021 Aug 20.</span> <span class="docsum-journal-citation short-journal-citation">Neurobiol Dis. 2021.</span> <span class="citation-part">PMID: <span class="docsum-pmid">34425216</span></span> <span class="free-resources spaced-citation-item citation-part">Free PMC article.</span> </div> </div> </li> </ul> <div class="actions-bar"> <a class="show-all-linked-articles" data-href="/?linkname=pubmed_pubmed_citedin&from_uid=29982416" data-ga-category="cited_by" data-ga-action="show_all" > See all "Cited by" articles </a> </div> </div> <div class="references" id="references"> <h2 class="title"> References </h2> <div id='top-references-list' class="references-lists-container"> <div class="refs-list"> <ol id="top-references-list-1" class="references-list"> <li> <ol class="references-and-notes-list"> <li class="skip-numbering" value="1"> Roberts D.F., Chavez J. and Court S.D. (1970) The genetic component in child mortality. Arch. Dis. Child., 45, 33–38. - <a class="reference-link" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC2020428/" ref="linksrc=references_link&ordinalpos=1" data-ga-category="reference" data-ga-action="PMC2020428" > PMC </a> - <a class="reference-link" href="/4245389/" ref="linksrc=references_link&ordinalpos=2" data-ga-category="reference" data-ga-action="4245389" > PubMed </a> </li> </ol> </li> <li> <ol class="references-and-notes-list"> <li class="skip-numbering" value="1"> Sugarman E.A., Nagan N., Zhu H., Akmaev V.R., Zhou Z., Rohlfs E.M., Flynn K., Hendrickson B.C., Scholl T., Sirko-Osadsa D.A. et al. (2012) Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72,400 specimens. Eur. J. Hum. Genet., 20, 27–32. - <a class="reference-link" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC3234503/" ref="linksrc=references_link&ordinalpos=1" data-ga-category="reference" data-ga-action="PMC3234503" > PMC </a> - <a class="reference-link" href="/21811307/" ref="linksrc=references_link&ordinalpos=2" data-ga-category="reference" data-ga-action="21811307" > PubMed </a> </li> </ol> </li> <li> <ol class="references-and-notes-list"> <li class="skip-numbering" value="1"> Pearn J. (1978) Incidence, prevalence, and gene frequency studies of chronic childhood spinal muscular atrophy. J. Med. Genet., 15, 409–413. - <a class="reference-link" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC1013753/" ref="linksrc=references_link&ordinalpos=1" data-ga-category="reference" data-ga-action="PMC1013753" > PMC </a> - <a class="reference-link" href="/745211/" ref="linksrc=references_link&ordinalpos=2" data-ga-category="reference" data-ga-action="745211" > PubMed </a> </li> </ol> </li> <li> <ol class="references-and-notes-list"> <li class="skip-numbering" value="1"> Pearn J.H. (1973) The gene frequency of acute Werdnig-Hoffmann disease (SMA type 1). A total population survey in North-East England. J. Oral Surg., 10, 260–265. - <a class="reference-link" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC1013030/" ref="linksrc=references_link&ordinalpos=1" data-ga-category="reference" data-ga-action="PMC1013030" > PMC </a> - <a class="reference-link" href="/4774536/" ref="linksrc=references_link&ordinalpos=2" data-ga-category="reference" data-ga-action="4774536" > PubMed </a> </li> </ol> </li> <li> <ol class="references-and-notes-list"> <li class="skip-numbering" value="1"> Lefebvre S., Burglen L., Reboullet S., Clermont O., Burlet P., Viollet L., Benichou B., Cruaud C., Millasseau P., Zeviani M. et al. (1995) Identification and characterization of a spinal muscular atrophy-determining gene. Cell, 80, 155–165. - <a class="reference-link" href="/7813012/" ref="linksrc=references_link&ordinalpos=1" data-ga-category="reference" data-ga-action="7813012" > PubMed </a> </li> </ol> </li> </ol> <div class="actions-bar"> <button class="show-all" ref="linksrc=show_all_references_link" aria-controls="top-references-list-1" data-next-page-url="/29982416/references/" data-ga-category="reference" data-ga-action="show_more" > Show all 78 references </button> </div> </div> </div> </div> <div id="publication-types" class="publication-types keywords-section"> <h2 class="title"> Publication types </h2> <ul class="keywords-list"><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link" aria-label="Toggle dropdown menu for keyword Research Support, N.I.H., Extramural" tabindex="0" aria-controls="keyword-actions-publication-types-0" aria-expanded="false" data-pinger-ignore> Research Support, N.I.H., Extramural </button><div id="keyword-actions-publication-types-0" class="keyword-actions-dropdown dropdown dropdown-container" hidden aria-label="Dropdown menu for keyword Research Support, N.I.H., Extramural"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link" href="/?term=%22Research+Support%2C+N.I.H.%2C+Extramural%22%5Bpt%5D&sort=date&sort_order=desc" data-href="/?term=%22Research+Support%2C+N.I.H.%2C+Extramural%22%5Bpt%5D&sort=date&sort_order=desc" ref="linksrc=search_in_pubmed_keyword_link&keyword="Research Support, N.I.H., Extramural"[pt]" data-ga-category="search" data-ga-action="pub_type" data-ga-label="Research Support, N.I.H., Extramural"> Search in PubMed </a></li><li><a class="search-in-mesh-link dropdown-block-link" ref="linksrc=search_in_mesh_link" href="https://www.ncbi.nlm.nih.gov/mesh?term=Research+Support%2C+N.I.H.%2C+Extramural" data-ga-category="search_mesh" data-ga-action="pub_type_link" 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class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link" href="/?term=%22Research+Support%2C+Non-U.S.+Gov%27t%22%5Bpt%5D&sort=date&sort_order=desc" data-href="/?term=%22Research+Support%2C+Non-U.S.+Gov%27t%22%5Bpt%5D&sort=date&sort_order=desc" ref="linksrc=search_in_pubmed_keyword_link&keyword="Research Support, Non-U.S. Gov't"[pt]" data-ga-category="search" data-ga-action="pub_type" data-ga-label="Research Support, Non-U.S. Gov't"> Search in PubMed </a></li><li><a class="search-in-mesh-link dropdown-block-link" ref="linksrc=search_in_mesh_link" href="https://www.ncbi.nlm.nih.gov/mesh?term=Research+Support%2C+Non-U.S.+Gov%27t" data-ga-category="search_mesh" data-ga-action="pub_type_link" data-ga-label="Research Support, Non-U.S. Gov't"> Search in MeSH </a></li><li><a class="add-to-search-link dropdown-block-link" ref="linksrc=add_to_search_link" role="button" data-search-term=""Research Support, Non-U.S. Gov't"[pt]" data-ga-category="search" 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id="keyword-actions-mesh-terms-1" class="keyword-actions-dropdown dropdown dropdown-container" hidden aria-label="Dropdown menu for keyword Animals"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link" href="/?term=%22Animals%22%5BMeSH%5D&sort=date&sort_order=desc" data-href="/?term=%22Animals%22%5BMeSH%5D&sort=date&sort_order=desc" ref="linksrc=search_in_pubmed_keyword_link&mesh="Animals"[MeSH]" data-ga-category="search" data-ga-action="mesh_term" data-ga-label="Animals"> Search in PubMed </a></li><li><a class="search-in-mesh-link dropdown-block-link" ref="linksrc=search_in_mesh_link" href="https://www.ncbi.nlm.nih.gov/mesh?term=Animals" data-ga-category="search_mesh" data-ga-action="mesh_term_link" data-ga-label="Animals"> Search in MeSH </a></li><li><a class="add-to-search-link dropdown-block-link" ref="linksrc=add_to_search_link" role="button" data-search-term=""Animals"[MeSH]" 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keyword Cell Line" tabindex="0" aria-controls="keyword-actions-mesh-terms-3" aria-expanded="false" data-pinger-ignore> Cell Line </button><div id="keyword-actions-mesh-terms-3" class="keyword-actions-dropdown dropdown dropdown-container" hidden aria-label="Dropdown menu for keyword Cell Line"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link" href="/?term=%22Cell+Line%22%5BMeSH%5D&sort=date&sort_order=desc" data-href="/?term=%22Cell+Line%22%5BMeSH%5D&sort=date&sort_order=desc" ref="linksrc=search_in_pubmed_keyword_link&mesh="Cell Line"[MeSH]" data-ga-category="search" data-ga-action="mesh_term" data-ga-label="Cell Line"> Search in PubMed </a></li><li><a class="search-in-mesh-link dropdown-block-link" ref="linksrc=search_in_mesh_link" href="https://www.ncbi.nlm.nih.gov/mesh?term=Cell+Line" data-ga-category="search_mesh" data-ga-action="mesh_term_link" data-ga-label="Cell Line"> Search in MeSH 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href="/?term=%22Disease+Models%2C+Animal%22%5BMeSH%5D&sort=date&sort_order=desc" data-href="/?term=%22Disease+Models%2C+Animal%22%5BMeSH%5D&sort=date&sort_order=desc" ref="linksrc=search_in_pubmed_keyword_link&mesh="Disease Models, Animal"[MeSH]" data-ga-category="search" data-ga-action="mesh_term" data-ga-label="Disease Models, Animal"> Search in PubMed </a></li><li><a class="search-in-mesh-link dropdown-block-link" ref="linksrc=search_in_mesh_link" href="https://www.ncbi.nlm.nih.gov/mesh?term=Disease+Models%2C+Animal" data-ga-category="search_mesh" data-ga-action="mesh_term_link" data-ga-label="Disease Models, Animal"> Search in MeSH </a></li><li><a class="add-to-search-link dropdown-block-link" ref="linksrc=add_to_search_link" role="button" data-search-term=""Disease Models, Animal"[MeSH]" data-ga-category="search" data-ga-action="add_to_search" data-ga-label=""Disease Models, Animal"[MeSH]" href="#"> Add to Search </a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link" aria-label="Toggle dropdown menu for keyword Drosophila melanogaster / genetics" tabindex="0" aria-controls="keyword-actions-mesh-terms-5" aria-expanded="false" data-pinger-ignore> Drosophila melanogaster / genetics </button><div id="keyword-actions-mesh-terms-5" class="keyword-actions-dropdown dropdown dropdown-container" hidden aria-label="Dropdown menu for keyword Drosophila melanogaster / genetics"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link" href="/?term=%22Drosophila+melanogaster%2Fgenetics%22%5BMeSH%5D&sort=date&sort_order=desc" data-href="/?term=%22Drosophila+melanogaster%2Fgenetics%22%5BMeSH%5D&sort=date&sort_order=desc" ref="linksrc=search_in_pubmed_keyword_link&mesh="Drosophila melanogaster/genetics"[MeSH]" data-ga-category="search" data-ga-action="mesh_term" data-ga-label="Drosophila melanogaster / 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aria-label="Dropdown menu for keyword Mice"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link" href="/?term=%22Mice%22%5BMeSH%5D&sort=date&sort_order=desc" data-href="/?term=%22Mice%22%5BMeSH%5D&sort=date&sort_order=desc" ref="linksrc=search_in_pubmed_keyword_link&mesh="Mice"[MeSH]" data-ga-category="search" data-ga-action="mesh_term" data-ga-label="Mice"> Search in PubMed </a></li><li><a class="search-in-mesh-link dropdown-block-link" ref="linksrc=search_in_mesh_link" href="https://www.ncbi.nlm.nih.gov/mesh?term=Mice" data-ga-category="search_mesh" data-ga-action="mesh_term_link" data-ga-label="Mice"> Search in MeSH </a></li><li><a class="add-to-search-link dropdown-block-link" ref="linksrc=add_to_search_link" role="button" data-search-term=""Mice"[MeSH]" data-ga-category="search" data-ga-action="add_to_search" data-ga-label=""Mice"[MeSH]" href="#"> Add to Search 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Neurons/metabolism"[MeSH]" data-ga-category="search" data-ga-action="add_to_search" data-ga-label=""Motor Neurons/metabolism"[MeSH]" href="#"> Add to Search </a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link" aria-label="Toggle dropdown menu for keyword Motor Neurons / pathology" tabindex="0" aria-controls="keyword-actions-mesh-terms-11" aria-expanded="false" data-pinger-ignore> Motor Neurons / pathology </button><div id="keyword-actions-mesh-terms-11" class="keyword-actions-dropdown dropdown dropdown-container" hidden aria-label="Dropdown menu for keyword Motor Neurons / pathology"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link" href="/?term=%22Motor+Neurons%2Fpathology%22%5BMeSH%5D&sort=date&sort_order=desc" data-href="/?term=%22Motor+Neurons%2Fpathology%22%5BMeSH%5D&sort=date&sort_order=desc" 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to Search </a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link major" aria-label="Toggle dropdown menu for keyword SMN Complex Proteins / genetics*" tabindex="0" aria-controls="keyword-actions-mesh-terms-major-19" aria-expanded="false" data-pinger-ignore> SMN Complex Proteins / genetics* </button><div id="keyword-actions-mesh-terms-major-19" class="keyword-actions-dropdown dropdown dropdown-container" hidden aria-label="Dropdown menu for keyword SMN Complex Proteins / genetics*"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link" href="/?term=%22SMN+Complex+Proteins%2Fgenetics%22%5BMAJR%5D&sort=date&sort_order=desc" data-href="/?term=%22SMN+Complex+Proteins%2Fgenetics%22%5BMAJR%5D&sort=date&sort_order=desc" ref="linksrc=search_in_pubmed_keyword_link&mesh="SMN Complex Proteins/genetics"[MAJR]" 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class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link" href="/?term=%22Zebrafish%2Fgenetics%22%5BMeSH%5D&sort=date&sort_order=desc" data-href="/?term=%22Zebrafish%2Fgenetics%22%5BMeSH%5D&sort=date&sort_order=desc" ref="linksrc=search_in_pubmed_keyword_link&mesh="Zebrafish/genetics"[MeSH]" data-ga-category="search" data-ga-action="mesh_term" data-ga-label="Zebrafish / genetics"> Search in PubMed </a></li><li><a class="search-in-mesh-link dropdown-block-link" ref="linksrc=search_in_mesh_link" href="https://www.ncbi.nlm.nih.gov/mesh?term=Zebrafish" data-ga-category="search_mesh" data-ga-action="mesh_term_link" data-ga-label="Zebrafish / genetics"> Search in MeSH </a></li><li><a class="add-to-search-link dropdown-block-link" ref="linksrc=add_to_search_link" role="button" data-search-term=""Zebrafish/genetics"[MeSH]" data-ga-category="search" data-ga-action="add_to_search" data-ga-label=""Zebrafish/genetics"[MeSH]" href="#"> Add to Search </a></li></ul></div></div></div></li></ul> </div> <div id="substances" class="substances keywords-section"> <h2 class="title"> Substances </h2> <ul class="keywords-list"><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link" aria-label="Toggle dropdown menu for keyword Ribonucleoproteins, Small Nuclear" tabindex="0" aria-controls="keyword-actions-substances-0" aria-expanded="false" data-pinger-ignore> Ribonucleoproteins, Small Nuclear </button><div id="keyword-actions-substances-0" class="keyword-actions-dropdown dropdown dropdown-container" hidden aria-label="Dropdown menu for keyword Ribonucleoproteins, Small Nuclear"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link" href="/?term=%22Ribonucleoproteins%2C+Small+Nuclear%22%5Bnm%5D&sort=date&sort_order=desc" data-href="/?term=%22Ribonucleoproteins%2C+Small+Nuclear%22%5Bnm%5D&sort=date&sort_order=desc" ref="linksrc=search_in_pubmed_keyword_link&keyword="Ribonucleoproteins, Small Nuclear"[nm]" data-ga-category="search" data-ga-action="substance" data-ga-label="Ribonucleoproteins, Small Nuclear"> Search in PubMed </a></li><li><a class="search-in-mesh-link dropdown-block-link" ref="linksrc=search_in_mesh_link" href="https://www.ncbi.nlm.nih.gov/mesh?term=%22Ribonucleoproteins%2C+Small+Nuclear%22" data-ga-category="search_mesh" data-ga-action="substance_link" data-ga-label="Ribonucleoproteins, Small Nuclear"> Search in MeSH </a></li><li><a class="add-to-search-link dropdown-block-link" ref="linksrc=add_to_search_link" role="button" data-search-term=""Ribonucleoproteins, Small Nuclear"[nm]" data-ga-category="search" data-ga-action="add_to_search" data-ga-label=""Ribonucleoproteins, Small Nuclear"[nm]" href="#"> Add to Search </a></li></ul></div></div></div></li><li><div class="keyword-actions 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Mild SMN missense alleles are only functional in the presence of SMN2 in mammals - PubMed