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Dysregulation of Metabolism and Proteostasis in Skeletal Muscle of a Presymptomatic Pompe Mouse Model

Pompe disease is a rare genetic metabolic disorder caused by mutations in acid-alpha glucoside (GAA) leading to pathological lysosomal glycogen accumulation associated with skeletal muscle weakness, respiratory difficulties and cardiomyopathy, dependent from the GAA residual enzyme activity. This st...

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Detalles Bibliográficos
Autores principales:	Rohm, Marlena, Volke, Leon, Schlaffke, Lara, Rehmann, Robert, Südkamp, Nicolina, Roos, Andreas, Schänzer, Anne, Hentschel, Andreas, Vorgerd, Matthias
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2023
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10297364/ https://www.ncbi.nlm.nih.gov/pubmed/37371072 http://dx.doi.org/10.3390/cells12121602

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