{"id":14294,"date":"2025-04-09T11:17:34","date_gmt":"2025-04-09T09:17:34","guid":{"rendered":"https:\/\/www.humangenetik-umg.de\/?p=14294"},"modified":"2025-04-09T11:17:34","modified_gmt":"2025-04-09T09:17:34","slug":"identified-heterozygous-truncating-sec24c-variants-affect-protein-transport-and-glycosylation-and-cause-previously-undescribed-syndrome-with-epilepsy-cataracts-and-anemia","status":"publish","type":"post","link":"https:\/\/www.humangenetik-umg.de\/en\/identified-heterozygous-truncating-sec24c-variants-affect-protein-transport-and-glycosylation-and-cause-previously-undescribed-syndrome-with-epilepsy-cataracts-and-anemia\/","title":{"rendered":"Identified heterozygous truncating SEC24C variants affect protein transport and glycosylation and cause previously undescribed syndrome with epilepsy, cataracts and anemia"},"content":{"rendered":"<div class=\"wpb-content-wrapper\">[vc_row][vc_column][mk_padding_divider size=&#8221;30&#8243;][\/vc_column][\/vc_row][vc_row][vc_column][mk_image src=&#8221;https:\/\/www.humangenetik-umg.de\/wp-content\/uploads\/2025\/04\/visual-sec24c-en.png&#8221; image_size=&#8221;full&#8221;][\/vc_column][\/vc_row][vc_row][vc_column][mk_padding_divider size=&#8221;30&#8243;][\/vc_column][\/vc_row][vc_row][vc_column][vc_column_text css=&#8221;.vc_custom_1744190252570{margin-bottom: 0px !important;}&#8221;]<strong>SEC24C deficiency causes trafficking and glycosylation abnormalities in an epileptic encephalopathy with cataracts and dyserythropoeisis<\/strong><br \/>\nB\u00f6gershausen N, Cavdarli B, Nagai T, Milev MP, Wolff A, Mehranfar M, Schmidt J, Choudhary D, Guti\u00e9rrez-Guti\u00e9rrez \u00d3, Cyganek L, Saint-Dic D, Zibat A, K\u00f6hrer K, Wollenweber TE, Wieczorek D, Altm\u00fcller J, Borodina T, Ka\u00e7ar D, Halilo\u011flu G, Li Y, Thiel C, Sacher M, Knapik EW, Yigit G, Wollnik B.<br \/>\n<em>JCI Insight.<\/em> 2025 Mar 25:e173484. doi: 10.1172\/jci.insight.173484. Epub ahead of print.<\/p>\n[mk_button dimension=&#8221;flat&#8221; size=&#8221;medium&#8221; icon=&#8221;mk-icon-long-arrow-right&#8221; icon_anim=&#8221;side&#8221; url=&#8221;https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/40131364&#8243; target=&#8221;_blank&#8221; bg_color=&#8221;#006699&#8243; btn_hover_bg=&#8221;#000000&#8243; btn_hover_txt_color=&#8221;#ffffff&#8221;]Article in PubMed[\/mk_button][mk_padding_divider size=&#8221;30&#8243;][\/vc_column_text][\/vc_column][\/vc_row]\n<\/div>","protected":false},"excerpt":{"rendered":"<p>[vc_row][vc_column][mk_padding_divider size=&#8221;30&#8243;][\/vc_column][\/vc_row][vc_row][vc_column][mk_image src=&#8221;https:\/\/www.humangenetik-umg.de\/wp-content\/uploads\/2025\/04\/visual-sec24c-en.png&#8221; image_size=&#8221;full&#8221;][\/vc_column][\/vc_row][vc_row][vc_column][mk_padding_divider size=&#8221;30&#8243;][\/vc_column][\/vc_row][vc_row][vc_column][vc_column_text css=&#8221;.vc_custom_1744190252570{margin-bottom: 0px !important;}&#8221;]SEC24C deficiency causes trafficking and glycosylation abnormalities in an epileptic encephalopathy with cataracts and dyserythropoeisis B\u00f6gershausen N, Cavdarli B, Nagai T, Milev MP, Wolff A, Mehranfar M, Schmidt J, Choudhary D, Guti\u00e9rrez-Guti\u00e9rrez \u00d3, Cyganek L, Saint-Dic D, Zibat A, K\u00f6hrer K, Wollenweber TE, Wieczorek D, Altm\u00fcller J, Borodina [&hellip;]<\/p>\n","protected":false},"author":3,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[51,52],"tags":[],"class_list":["post-14294","post","type-post","status-publish","format-standard","hentry","category-news","category-research"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v26.8 - 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