Disease modeling and gene correction of LGMDR21 iPSCs elucidates the role of POGLUT1 in skeletal muscle maintenance, regeneration, and the satellite cell niche

Autosomal recessive limb-girdle muscular dystrophy 21 (LGMDR21) is caused by pathogenic variants in protein O-glucosyltransferase 1 (POGLUT1), which is responsible for O-glucosylation of specific epidermal growth factor (EGF) repeats found in ∼50 mammalian proteins, including Notch receptors. Previo...

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Detalles Bibliográficos
Autores principales: Ortiz-Vitali, Jose L., Wu, Jianbo, Xu, Nasa, Shieh, Annie W., Niknejad, Nima, Takeuchi, Megumi, Paradas, Carmen, Lin, Chunru, Jafar-Nejad, Hamed, Haltiwanger, Robert S., Wang, Sidney H., Darabi, Radbod
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society of Gene & Cell Therapy 2023
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10462830/
https://www.ncbi.nlm.nih.gov/pubmed/37650119
http://dx.doi.org/10.1016/j.omtn.2023.07.037

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