{"id":1338,"date":"2024-02-02T09:07:02","date_gmt":"2024-02-02T14:07:02","guid":{"rendered":"https:\/\/pjenkinslab.org\/?p=1338"},"modified":"2024-02-02T09:10:49","modified_gmt":"2024-02-02T14:10:49","slug":"andrews-paper-on-the-convergence-of-ank2-and-scn2a-in-autism-is-accepted-in-neuron","status":"publish","type":"post","link":"https:\/\/pjenkinslab.org\/index.php\/2024\/02\/02\/andrews-paper-on-the-convergence-of-ank2-and-scn2a-in-autism-is-accepted-in-neuron\/","title":{"rendered":"Andrew&#8217;s paper on the convergence of ankyrin-B and Nav1.2 in autism is accepted in Neuron!"},"content":{"rendered":"<div class='flex_column av-4y4x8a-c8e8a3a8bead8cf42a905ba08a01d02f av_one_half  avia-builder-el-0  el_before_av_one_half  avia-builder-el-first  first flex_column_div '     ><style type=\"text\/css\" data-created_by=\"avia_inline_auto\" id=\"style-css-av-ls4pqvfz-abe237e97f0524f1799d23b855be7e6f\">\n.avia-image-container.av-ls4pqvfz-abe237e97f0524f1799d23b855be7e6f img.avia_image{\nbox-shadow:none;\n}\n.avia-image-container.av-ls4pqvfz-abe237e97f0524f1799d23b855be7e6f .av-image-caption-overlay-center{\ncolor:#ffffff;\n}\n<\/style>\n<div  class='avia-image-container av-ls4pqvfz-abe237e97f0524f1799d23b855be7e6f av-styling- avia-align-center  avia-builder-el-1  avia-builder-el-no-sibling '   itemprop=\"image\" itemscope=\"itemscope\" itemtype=\"https:\/\/schema.org\/ImageObject\" ><div class=\"avia-image-container-inner\"><div class=\"avia-image-overlay-wrap\"><img decoding=\"async\" class='wp-image-1341 avia-img-lazy-loading-not-1341 avia_image ' src=\"https:\/\/pjenkinslab.org\/wp-content\/uploads\/2024\/02\/NeuronOutline-845x563.jpg\" alt='' title='NeuronOutline'  height=\"563\" width=\"845\"  itemprop=\"thumbnailUrl\"  \/><\/div><\/div><\/div><\/div>\n<div class='flex_column av-1w8y3u-ba1d0862373d1bfd8669e79b05840d95 av_one_half  avia-builder-el-2  el_after_av_one_half  avia-builder-el-last  flex_column_div '     ><style type=\"text\/css\" data-created_by=\"avia_inline_auto\" id=\"style-css-av-ls4pyk07-1ee7431c7c4ed0bb001fcfacd3b36799\">\n#top .av_textblock_section.av-ls4pyk07-1ee7431c7c4ed0bb001fcfacd3b36799 .avia_textblock{\nfont-size:16px;\n}\n<\/style>\n<section  class='av_textblock_section av-ls4pyk07-1ee7431c7c4ed0bb001fcfacd3b36799'  itemscope=\"itemscope\" itemtype=\"https:\/\/schema.org\/BlogPosting\" itemprop=\"blogPost\" ><div class='avia_textblock'  itemprop=\"text\" ><p>Andrew&#8217;s first-author publication, an ongoing collaboration between the Bender lab at UCSF and our group, is published in <a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/38290518\/\"><em>Neuron<\/em><\/a>!<\/p>\n<p>Autism spectrum disorder (ASD) is associated with dysfunction in hundreds of genes. How dysfunction in ASD-associated genes converge on shared biological mechanisms remains an open question. Dysfunction in sodium channels and their ankyrin scaffolding partners have both been implicated in neurodevelopmental disorders, including autism spectrum disorder (ASD). In particular, the genes <em>SCN2A<\/em>, which encodes the sodium channel Na<sub>V<\/sub>1.2, and <em>ANK2<\/em>, which encodes ankyrin-B, have strong ASD association. Recent studies indicate that ASD-associated haploinsufficiency in <em>Scn2a<\/em> impairs dendritic excitability and synaptic function in neocortical pyramidal cells, but how Na<sub>V<\/sub>1.2 is anchored within dendritic regions is unknown. Here, we show that ankyrin-B is essential for scaffolding Na<sub>V<\/sub>1.2 to the dendritic membrane of mouse neocortical neurons, and that haploinsufficiency of <em>Ank2<\/em> phenocopies intrinsic dendritic excitability and synaptic deficits observed in <em>Scn2a<sup>+\/-<\/sup><\/em> conditions. These results establish a direct, convergent link between two major ASD risk genes and reinforce an emerging framework suggesting that neocortical pyramidal cell dendritic dysfunction can contribute to neurodevelopmental disorder pathophysiology.<\/p>\n<p>This work was featured in <a href=\"https:\/\/www.thetransmitter.org\/spectrum\/top-autism-linked-genes-join-forces-to-shape-synaptic-plasticity\/\">The Transmitter<\/a> and in a press release from <a href=\"https:\/\/www.michiganmedicine.org\/health-lab\/two-genes-linked-autism-implicated-brain-cell-connectivity\">Michigan Medicine<\/a>. Congrats, Andrew and team!!<\/p>\n<\/div><\/section><\/div>\n","protected":false},"excerpt":{"rendered":"","protected":false},"author":1,"featured_media":1341,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[],"_links":{"self":[{"href":"https:\/\/pjenkinslab.org\/index.php\/wp-json\/wp\/v2\/posts\/1338"}],"collection":[{"href":"https:\/\/pjenkinslab.org\/index.php\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/pjenkinslab.org\/index.php\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/pjenkinslab.org\/index.php\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/pjenkinslab.org\/index.php\/wp-json\/wp\/v2\/comments?post=1338"}],"version-history":[{"count":7,"href":"https:\/\/pjenkinslab.org\/index.php\/wp-json\/wp\/v2\/posts\/1338\/revisions"}],"predecessor-version":[{"id":1343,"href":"https:\/\/pjenkinslab.org\/index.php\/wp-json\/wp\/v2\/posts\/1338\/revisions\/1343"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/pjenkinslab.org\/index.php\/wp-json\/wp\/v2\/media\/1341"}],"wp:attachment":[{"href":"https:\/\/pjenkinslab.org\/index.php\/wp-json\/wp\/v2\/media?parent=1338"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/pjenkinslab.org\/index.php\/wp-json\/wp\/v2\/categories?post=1338"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/pjenkinslab.org\/index.php\/wp-json\/wp\/v2\/tags?post=1338"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}