{"id":816,"date":"2015-10-22T14:44:10","date_gmt":"2015-10-22T14:44:10","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=816"},"modified":"2026-02-25T00:36:43","modified_gmt":"2026-02-25T00:36:43","slug":"mks1-regulates-ciliary-inpp5e-levels-in-joubert-syndrome","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2015\/10\/22\/mks1-regulates-ciliary-inpp5e-levels-in-joubert-syndrome\/","title":{"rendered":"MKS1 regulates ciliary INPP5E levels in Joubert syndrome (Contributed by Gisela Slaats)"},"content":{"rendered":"

Ciliopathies are disorders unified by shared pathophysiology and overlapping clinical phenotypes. MKS1 localizes to the base of the cilium, and MKS1 mutations are a major cause of the severe ciliopathy Meckel syndrome. We identified MKS1 mutations in nine families with the milder Joubert syndrome (JS), confirming a prior report linking MKS1 to JS. We demonstrate that JS-associated MKS1 mutations do not consistently alter cilium number or length, but they do reduce ciliary localization of ARL13B and consequently INPP5E. Given that INPP5E mutations also cause JS, we propose that INPP5E dysfunction is a central mechanism underlying JS, providing a pharmacologic target for future treatments. (http:\/\/jmg.bmj.com\/content\/early\/2015\/10\/21\/jmedgenet-2015-103250<\/a> )<\/p>\n","protected":false},"excerpt":{"rendered":"

Ciliopathies are disorders unified by shared pathophysiology and overlapping clinical phenotypes. MKS1 localizes to the base of the cilium, and MKS1 mutations are a major cause of the severe ciliopathy Meckel syndrome. We identified MKS1 mutations in nine families with the milder Joubert syndrome (JS), confirming a prior report linking MKS1 to JS. We demonstrate […]<\/p>\n

Read More…<\/a><\/p>\n","protected":false},"author":123,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[],"class_list":["post-816","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"\nMKS1 regulates ciliary INPP5E levels in Joubert syndrome (Contributed by Gisela Slaats) - JMG Contact blog<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/blogs.bmj.com\/jmg\/2015\/10\/22\/mks1-regulates-ciliary-inpp5e-levels-in-joubert-syndrome\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"MKS1 regulates ciliary INPP5E levels in Joubert syndrome (Contributed by Gisela Slaats) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Ciliopathies are disorders unified by shared pathophysiology and overlapping clinical phenotypes. MKS1 localizes to the base of the cilium, and MKS1 mutations are a major cause of the severe ciliopathy Meckel syndrome. We identified MKS1 mutations in nine families with the milder Joubert syndrome (JS), confirming a prior report linking MKS1 to JS. We demonstrate [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2015\/10\/22\/mks1-regulates-ciliary-inpp5e-levels-in-joubert-syndrome\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2015-10-22T14:44:10+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-25T00:36:43+00:00\" \/>\n<meta name=\"author\" content=\"hqqu\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:creator\" content=\"@HuiQiQu\" \/>\n<meta name=\"twitter:label1\" content=\"Written by\" \/>\n\t<meta name=\"twitter:data1\" content=\"hqqu\" \/>\n\t<meta name=\"twitter:label2\" content=\"Est. reading time\" \/>\n\t<meta name=\"twitter:data2\" content=\"1 minute\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2015\\\/10\\\/22\\\/mks1-regulates-ciliary-inpp5e-levels-in-joubert-syndrome\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2015\\\/10\\\/22\\\/mks1-regulates-ciliary-inpp5e-levels-in-joubert-syndrome\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"MKS1 regulates ciliary INPP5E levels in Joubert syndrome (Contributed by Gisela Slaats)\",\"datePublished\":\"2015-10-22T14:44:10+00:00\",\"dateModified\":\"2026-02-25T00:36:43+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2015\\\/10\\\/22\\\/mks1-regulates-ciliary-inpp5e-levels-in-joubert-syndrome\\\/\"},\"wordCount\":128,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2015\\\/10\\\/22\\\/mks1-regulates-ciliary-inpp5e-levels-in-joubert-syndrome\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2015\\\/10\\\/22\\\/mks1-regulates-ciliary-inpp5e-levels-in-joubert-syndrome\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2015\\\/10\\\/22\\\/mks1-regulates-ciliary-inpp5e-levels-in-joubert-syndrome\\\/\",\"name\":\"MKS1 regulates ciliary INPP5E levels in Joubert syndrome (Contributed by Gisela Slaats) - 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