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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Detalles Bibliográficos
Autores principales: Rossiaud, Lucille, Fragner, Pascal, Barbon, Elena, Gardin, Antoine, Benabides, Manon, Pellier, Emilie, Cosette, Jérémie, El Kassar, Lina, Giraud-Triboult, Karine, Nissan, Xavier, Ronzitti, Giuseppe, Hoch, Lucile
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Cell and Developmental Biology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10213880/
https://www.ncbi.nlm.nih.gov/pubmed/37250895
http://dx.doi.org/10.3389/fcell.2023.1163427

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