Autophagy and Lysosomal Functionality in CMT2B Fibroblasts Carrying the RAB7<sup>K126R</sup> Mutation

Autophagy and Lysosomal Functionality in CMT2B Fibroblasts Carrying the RAB7<sup>K126R</sup> Mutation

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

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Bibliographic Details
Main Authors: Roberta Romano, Victoria Stefania Del Fiore, Paola Saveri, Ilaria Elena Palamà, Chiara Pisciotta, Davide Pareyson, Cecilia Bucci, Flora Guerra
Format: Article
Language:English
Published: MDPI AG 2022-01-01
Series:Cells
Subjects:
Charcot-Marie-Tooth
RAB7A
autophagy
lysosome
lipophagy
lipid droplets
Online Access:https://www.mdpi.com/2073-4409/11/3/496

Internet

https://www.mdpi.com/2073-4409/11/3/496

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