Pathological modeling of glycogen storage disease type III with CRISPR/Cas9 edited human pluripotent stem cells

Introduction: Glycogen storage disease type III (GSDIII) is a rare genetic disease caused by mutations in the AGL gene encoding the glycogen debranching enzyme (GDE). The deficiency of this enzyme, involved in cytosolic glycogen degradation, leads to pathological glycogen accumulation in liver, skel...

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Autori principali:	Lucille Rossiaud, Pascal Fragner, Elena Barbon, Antoine Gardin, Manon Benabides, Emilie Pellier, Jérémie Cosette, Lina El Kassar, Karine Giraud-Triboult, Xavier Nissan, Giuseppe Ronzitti, Lucile Hoch
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	Frontiers Media S.A. 2023-05-01
Serie:	Frontiers in Cell and Developmental Biology
Soggetti:	induced pluripotent stem cell glycogen storage disease muscular disorders skeletal muscle cell CRISPR/Cas9
Accesso online:	https://www.frontiersin.org/articles/10.3389/fcell.2023.1163427/full
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