Article
Germline C1GALT1C1 mutation causes a multisystem chaperonopathy.
Proceedings of the National Academy of Sciences of the United States of America - 30 May 2023
Erger Florian, Aryal Rajindra P, Reusch Björn, Matsumoto Yasuyuki, Meyer Robert, Zeng Junwei, Knopp Cordula, Noel Maxence, Muerner Lukas, Wenzel Andrea, Kohl Stefan, Tschernoster Nikolai, Rappl Gunter, Rouvet Isabelle, Schröder-Braunstein Jutta, Seibert Felix S, Thiele Holger, Häusler Martin G, Weber Lutz T, Büttner-Herold Maike, Elbracht Miriam, Cummings Sandra F, Altmüller Janine, Habbig Sandra, Cummings Richard D, Beck Bodo B
Abstract excerpt
Mutations in genes encoding molecular chaperones can lead to chaperonopathies, but none have so far been identified causing congenital disorders of glycosylation. Here we identified two maternal half-brothers with a novel chaperonopathy, causing impaired protein O-glycosylation. The patients have a decreased activity of T-synthase (C1GALT1), an enzyme that exclusively synthesizes the T-antigen, a ubiquitous...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.