Induced pluripotent stem cell (iPSC) modeling validates reduced GBE1 enzyme activity due to a novel variant, p.Ile694Asn, found in a patient with suspected glycogen storage disease IV

Induced pluripotent stem cell (iPSC) modeling validates reduced GBE1 enzyme activity due to a novel variant, p.Ile694Asn, found in a patient with suspected glycogen storage disease IV

Background: Glycogen Storage disease type 4 (GSD4), a rare disease caused by glycogen branching enzyme 1 (GBE1) deficiency, affects multiple organ systems including the muscles, liver, heart, and central nervous system. Here we report a GSD4 patient, who presented with severe hepatosplenomegaly and...

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Bibliographic Details
Main Authors: Chie Naito, Karis Kosar, Eriko Kishimoto, Loren Pena, Yilun Huang, Kaili Hao, Anas Bernieh, Jennifer Kasten, Chet Villa, Priya Kishnani, Bali Deeksha, Mingxia Gu, Akihiro Asai
Format: Article
Language:English
Published: Elsevier 2024-06-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Glycogen storage disease IV (GSD4)
Glycogen branching enzyme 1 (GBE1)
iPSCs (induced pluripotent stem cells)
GBE1 enzyme activity
Hepatocyte differentiation
Cardiomyocyte differentiation
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426924000223

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http://www.sciencedirect.com/science/article/pii/S2214426924000223

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