Altered in vitro muscle differentiation in X-linked myopathy with excessive autophagy

Altered in vitro muscle differentiation in X-linked myopathy with excessive autophagy

X-linked myopathy with excessive autophagy (XMEA) is a genetic disease associated with weakness of the proximal muscles. It is caused by mutations in the VMA21 gene, coding for a chaperone that functions in the vacuolar ATPase (v-ATPase) assembly. Mutations associated with lower content of assembled...

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Main Authors: Stephanie A. Fernandes, Camila F. Almeida, Lucas S. Souza, Monize Lazar, Paula Onofre-Oliveira, Guilherme L. Yamamoto, Letícia Nogueira, Letícia Y. Tasaki, Rafaela R. Cardoso, Rita C. M. Pavanello, Helga C. A. Silva, Merari F. R. Ferrari, Anne Bigot, Vincent Mouly, Mariz Vainzof, Annemieke Aartsma-Rus, James Dowling, Maaike van Putten
Format: Article
Language:English
Published: The Company of Biologists 2020-02-01
Series:Disease Models & Mechanisms
Subjects:
xmea
autophagy
muscle
myogenesis
Online Access:http://dmm.biologists.org/content/13/2/dmm041244

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