Pharmacological Chaperone Therapy for Pompe Disease

Pompe disease (PD), a lysosomal storage disease, is caused by mutations of the GAA gene, inducing deficiency in the acid alpha-glucosidase (GAA). This enzymatic impairment causes glycogen burden in lysosomes and triggers cell malfunctions, especially in cardiac, smooth and skeletal muscle cells and...

Descripción completa

Detalles Bibliográficos
Autores principales: Borie-Guichot, Marc, Tran, My Lan, Génisson, Yves, Ballereau, Stéphanie, Dehoux, Cécile
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8659197/
https://www.ncbi.nlm.nih.gov/pubmed/34885805
http://dx.doi.org/10.3390/molecules26237223

Ejemplares similares

Ejemplares similares