Generation of the First Human In Vitro Model for McArdle Disease Based on iPSC Technology

McArdle disease is a rare autosomal recessive disorder caused by mutations in the PYGM gene. This gene encodes for the skeletal muscle isoform of glycogen phosphorylase (myophosphorylase), the first enzyme in glycogenolysis. Patients with this disorder are unable to obtain energy from their glycogen...

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Detalles Bibliográficos
Autores principales: Ortuño-Costela, María del Carmen, Cerrada, Victoria, Moreno-Izquierdo, Ana, García-Consuegra, Inés, Laberthonnière, Camille, Delourme, Mégane, Garesse, Rafael, Arenas, Joaquín, Fuster García, Carla, García García, Gema, Millán, José María, Magdinier, Frédérique, Gallardo, María Esther
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9692531/
https://www.ncbi.nlm.nih.gov/pubmed/36430443
http://dx.doi.org/10.3390/ijms232213964

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9692531/
https://www.ncbi.nlm.nih.gov/pubmed/36430443
http://dx.doi.org/10.3390/ijms232213964

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