Congenital disorder of glycosylation caused by starting site-specific variant in syntaxin-5

Congenital disorder of glycosylation caused by starting site-specific variant in syntaxin-5

Mutations in genes critical for proper intra-Golgi transport can cause human syndromes due to defects in glycosylation of proteins. Here, the authors identify a human variant of Syntaxin-5 that causes fatal multisystem disease and mislocalization of glycosyltransferases due to altered Golgi transpor...

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Bibliographic Details
Main Authors: Peter T. A. Linders, Eveline C. F. Gerretsen, Angel Ashikov, Mari-Anne Vals, Rinse de Boer, Natalia H. Revelo, Richard Arts, Melissa Baerenfaenger, Fokje Zijlstra, Karin Huijben, Kimiyo Raymond, Kai Muru, Olga Fjodorova, Sander Pajusalu, Katrin Õunap, Martin ter Beest, Dirk Lefeber, Geert van den Bogaart
Format: Article
Language:English
Published: Nature Portfolio 2021-10-01
Series:Nature Communications
Online Access:https://doi.org/10.1038/s41467-021-26534-y

Internet

https://doi.org/10.1038/s41467-021-26534-y

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