Autophagy and Lysosomal Functionality in CMT2B Fibroblasts Carrying the RAB7(K126R) Mutation

Charcot-Marie-Tooth type 2B (CMT2B) disease is a dominant axonal peripheral neuropathy caused by five mutations in the RAB7A gene. Autophagy and late endocytic trafficking were already characterized in CMT2B. Indeed, impairment of autophagy and an increase in lysosomal degradative activity were foun...

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Detalles Bibliográficos
Autores principales: Romano, Roberta, Del Fiore, Victoria Stefania, Saveri, Paola, Palamà, Ilaria Elena, Pisciotta, Chiara, Pareyson, Davide, Bucci, Cecilia, Guerra, Flora
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8834514/
https://www.ncbi.nlm.nih.gov/pubmed/35159308
http://dx.doi.org/10.3390/cells11030496

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8834514/
https://www.ncbi.nlm.nih.gov/pubmed/35159308
http://dx.doi.org/10.3390/cells11030496

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