{"id":1960,"date":"2024-04-27T13:05:47","date_gmt":"2024-04-27T13:05:47","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1960"},"modified":"2026-02-22T23:14:47","modified_gmt":"2026-02-22T23:14:47","slug":"genetic-evidence-for-splicing-dependent-structural-and-functional-plasticity-in-cask-protein","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2024\/04\/27\/genetic-evidence-for-splicing-dependent-structural-and-functional-plasticity-in-cask-protein\/","title":{"rendered":"Genetic evidence for splicing-dependent structural and functional plasticity in CASK protein (Contributed by Dr Konark Mukherjee)"},"content":{"rendered":"

Mutations in the gene CASK<\/em> disrupt brain growth and cause global developmental delay, with\u00a0the hindbrain\u00a0(including the cerebellum)\u00a0disproportionately affected. Here we show that\u00a0the\u00a0cerebellum,\u00a0but not forebrain,\u00a0remains vulnerable to CASK\u00a0loss throughout life,\u00a0and surprisingly,\u00a0certain CASK<\/em> mutations affect the forebrain without cerebellar involvement. These mutations disrupt a CASK protein conformation that is specific to vertebrates and likely to have distinct molecular function\/s. Based on this evidence, we propose that the mechanisms by which CASK loss affects the forebrain and cerebellum are different and that vertebrate-specific protein conformations are more important for forebrain growth. (https:\/\/jmg.bmj.com\/content\/early\/2024\/04\/26\/jmg-2023-109747<\/a> )<\/p>\n

\"\"<\/a><\/p>\n","protected":false},"excerpt":{"rendered":"

Mutations in the gene CASK disrupt brain growth and cause global developmental delay, with\u00a0the hindbrain\u00a0(including the cerebellum)\u00a0disproportionately affected. Here we show that\u00a0the\u00a0cerebellum,\u00a0but not forebrain,\u00a0remains vulnerable to CASK\u00a0loss throughout life,\u00a0and surprisingly,\u00a0certain CASK mutations affect the forebrain without cerebellar involvement. These mutations disrupt a CASK protein conformation that is specific to vertebrates and likely to have distinct […]<\/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-1960","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"\nGenetic evidence for splicing-dependent structural and functional plasticity in CASK protein (Contributed by Dr Konark Mukherjee) - 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\/2024\/04\/27\/genetic-evidence-for-splicing-dependent-structural-and-functional-plasticity-in-cask-protein\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Genetic evidence for splicing-dependent structural and functional plasticity in CASK protein (Contributed by Dr Konark Mukherjee) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Mutations in the gene CASK disrupt brain growth and cause global developmental delay, with\u00a0the hindbrain\u00a0(including the cerebellum)\u00a0disproportionately affected. 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