From Acid Alpha-Glucosidase Deficiency to Autophagy: Understanding the Bases of POMPE Disease

Pompe disease (PD) is caused by mutations in the GAA gene, which encodes the lysosomal enzyme acid alpha-glucosidase, causing lysosomal glycogen accumulation, mainly in muscular tissue. Autophagic buildup is considered the main factor affecting skeletal muscle, although other processes are also invo...

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Detalles Bibliográficos
Autores principales: Sánchez-Porras, Valentina, Guevara-Morales, Johana Maria, Echeverri-Peña, Olga Yaneth
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10419125/
https://www.ncbi.nlm.nih.gov/pubmed/37569856
http://dx.doi.org/10.3390/ijms241512481

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10419125/
https://www.ncbi.nlm.nih.gov/pubmed/37569856
http://dx.doi.org/10.3390/ijms241512481

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