{"id":836,"date":"2015-12-14T19:23:06","date_gmt":"2015-12-14T19:23:06","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=836"},"modified":"2026-02-25T00:32:49","modified_gmt":"2026-02-25T00:32:49","slug":"disruption-of-golgi-morphology-and-altered-protein-glycosylation-in-pla2g6-associated-neurodegeneration","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2015\/12\/14\/disruption-of-golgi-morphology-and-altered-protein-glycosylation-in-pla2g6-associated-neurodegeneration\/","title":{"rendered":"Disruption of Golgi morphology and altered protein glycosylation in PLA2G6-associated neurodegeneration (Contributed by Dr. Mariska Davids)"},"content":{"rendered":"<p>Mutations in the gene <em>PLA2G6<\/em> cause neurodegeneration by a yet undefined mechanism.<\/p>\n<p>In this study we analyzed the Golgi and glycosylation in cultured skin fibroblasts in three patients with PLA2G6-associated neurodegeneration (PLAN). Although each patient had different mutations, all had altered Golgi morphology and protein O-linked glycosylation that were rescued by overexpression of wild type PLA2G6.<\/p>\n<p>The Golgi and glycosylation are essential for correct processing and distribution of proteins. Defects in either may lead to Lewy body and Tau pathology, two neuropathological features of PLAN. Disruption of the Golgi and glycosylation may, therefore, cause the pathogenesis of PLAN and perhaps other neurodegenerative disorders. (<a href=\"http:\/\/jmg.bmj.com\/content\/early\/2015\/12\/14\/jmedgenet-2015-103338\">http:\/\/jmg.bmj.com\/content\/early\/2015\/12\/14\/jmedgenet-2015-103338<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/files\/2015\/12\/Untitled.jpg\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-837\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2015\/12\/Untitled-300x227.jpg\" alt=\"Untitled\" width=\"300\" height=\"227\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2015\/12\/Untitled-300x227.jpg 300w, https:\/\/blogs.bmj.com\/jmg\/files\/2015\/12\/Untitled-1024x776.jpg 1024w, https:\/\/blogs.bmj.com\/jmg\/files\/2015\/12\/Untitled.jpg 1101w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Mutations in the gene PLA2G6 cause neurodegeneration by a yet undefined mechanism. In this study we analyzed the Golgi and glycosylation in cultured skin fibroblasts in three patients with PLA2G6-associated neurodegeneration (PLAN). Although each patient had different mutations, all had altered Golgi morphology and protein O-linked glycosylation that were rescued by overexpression of wild type [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2015\/12\/14\/disruption-of-golgi-morphology-and-altered-protein-glycosylation-in-pla2g6-associated-neurodegeneration\/\">Read More&#8230;<\/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-836","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.5 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Disruption of Golgi morphology and altered protein glycosylation in PLA2G6-associated neurodegeneration (Contributed by Dr. Mariska Davids) - 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\/12\/14\/disruption-of-golgi-morphology-and-altered-protein-glycosylation-in-pla2g6-associated-neurodegeneration\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Disruption of Golgi morphology and altered protein glycosylation in PLA2G6-associated neurodegeneration (Contributed by Dr. Mariska Davids) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Mutations in the gene PLA2G6 cause neurodegeneration by a yet undefined mechanism. In this study we analyzed the Golgi and glycosylation in cultured skin fibroblasts in three patients with PLA2G6-associated neurodegeneration (PLAN). 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