Glycosphingolipid synthesis is impaired in SLC35A2-CDG and improves with galactose supplementation

Glycosphingolipid synthesis is impaired in SLC35A2-CDG and improves with galactose supplementation

Abstract SLC35A2-CDG is an X-linked congenital disorder of glycosylation (CDG), characterized by defective UDP-galactose transport into the Golgi and endoplasmic reticulum and consequent insufficient galactosylation of glycans. Clinically, this translates into a range of predominantly neurological s...

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Main Authors: Andrea Jáñez Pedrayes, Sam De Craemer, Jakub Idkowiak, Dries Verdegem, Christian Thiel, Rita Barone, Mercedes Serrano, Tomáš Honzík, Eva Morava, Pieter Vermeersch, François Foulquier, Willy Morelle, Johannes V. Swinnen, Daisy Rymen, David Cassiman, Bart Ghesquière, Peter Witters
Format: Article
Language:English
Published: Springer 2025-06-01
Series:Cellular and Molecular Life Sciences
Subjects:
CDG
Gangliosides
Glycosphingolipids
GSL
SLC35A2-CDG
Tracer metabolomics
Online Access:https://doi.org/10.1007/s00018-025-05759-w
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