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...

Descrizione completa

Dettagli Bibliografici

Autori principali:	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
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	Elsevier 2024-06-01
Serie:	Molecular Genetics and Metabolism Reports
Soggetti:	Glycogen storage disease IV (GSD4) Glycogen branching enzyme 1 (GBE1) iPSCs (induced pluripotent stem cells) GBE1 enzyme activity Hepatocyte differentiation Cardiomyocyte differentiation
Accesso online:	http://www.sciencedirect.com/science/article/pii/S2214426924000223
Tags:	Aggiungi Tag Nessun Tag, puoi essere il primo ad aggiungerne!!