In Vitro Skeletal Muscle Model of PGM1 Deficiency Reveals Altered Energy Homeostasis

Phosphoglucomutase 1 (PGM1) is a key enzyme for the regulation of energy metabolism from glycogen and glycolysis, as it catalyzes the interconversion of glucose 1-phosphate and glucose 6-phosphate. PGM1 deficiency is an autosomal recessive disorder characterized by a highly heterogenous clinical spe...

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Detalles Bibliográficos
Autores principales: Conte, Federica, Ashikov, Angel, Mijdam, Rachel, van de Ven, Eline G. P., van Scherpenzeel, Monique, Veizaj, Raisa, Mahalleh-Yousefi, Seyed P., Post, Merel A., Huijben, Karin, Panneman, Daan M., Rodenburg, Richard J. T., Voermans, Nicol C., Garanto, Alejandro, Koopman, Werner J. H., Wessels, Hans J. C. T., Noga, Marek J., Lefeber, Dirk J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10179458/
https://www.ncbi.nlm.nih.gov/pubmed/37175952
http://dx.doi.org/10.3390/ijms24098247

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