Identification of a muscle-specific isoform of VMA21 as a potent actor in X-linked myopathy with excessive autophagy pathogenesis

Defective lysosomal acidification is responsible for a large range of multi-systemic disorders associated with impaired autophagy. Diseases caused by mutations in the VMA21 gene stand as exceptions, specifically affecting skeletal muscle (X-linked Myopathy with Excessive Autophagy, XMEA) or liver (C...

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Detalles Bibliográficos
Autores principales: Cocchiararo, Ilaria, Cattaneo, Olivia, Rajendran, Jayasimman, Chabry, Florent, Cornut, Mélanie, Soldati, Hadrien, Bigot, Anne, Mamchaoui, Kamel, Gibertini, Sara, Bouche, Axelle, Ham, Daniel J, Laumonier, Thomas, Prola, Alexandre, Castets, Perrine
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2023
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10695681/
https://www.ncbi.nlm.nih.gov/pubmed/37756622
http://dx.doi.org/10.1093/hmg/ddad164

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10695681/
https://www.ncbi.nlm.nih.gov/pubmed/37756622
http://dx.doi.org/10.1093/hmg/ddad164

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