In vitro characterization of cells derived from a patient with the GLA variant c.376A>G (p.S126G) highlights a non-pathogenic role in Fabry disease

Fabry disease (FD) is a life-limiting disorder characterized by intracellular globotriaosylceramide (Gb3) accumulations. The underlying α-galactosidase A (α-GAL A) deficiency is caused by variants in the gene GLA. Variants of unknown significance (VUS) are frequently found in GLA and challenge clini...

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Bibliographic Details

Published in:	Molecular Genetics and Metabolism Reports
Main Authors:	Maximilian Breyer, Julia Grüner, Alexandra Klein, Laura Finke, Katharina Klug, Markus Sauer, Nurcan Üçeyler
Format:	Article
Language:	English
Published:	Elsevier 2024-03-01
Subjects:	Fabry disease Variants of unknown significance C.376 A > G (p.S126G) Globotriaosylceramide Induced pluripotent stem cells Sensory neurons
Online Access:	http://www.sciencedirect.com/science/article/pii/S2214426923000757