Germline C1GALT1C1 mutation causes a multisystem chaperonopathy

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...

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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: National Academy of Sciences 2023
Materias:
Biological Sciences
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10235935/
https://www.ncbi.nlm.nih.gov/pubmed/37216524
http://dx.doi.org/10.1073/pnas.2211087120

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