The Dysferlin Transcript Containing the Alternative Exon 40a is Essential for Myocyte Functions

The Dysferlin Transcript Containing the Alternative Exon 40a is Essential for Myocyte Functions

Dysferlinopathies are a group of muscular dystrophies caused by recessive mutations in the DYSF gene encoding the dysferlin protein. Dysferlin is a transmembrane protein involved in several muscle functions like T-tubule maintenance and membrane repair. In 2009, a study showed the existence of fourt...

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Bibliographic Details
Main Authors: Océane Ballouhey, Sébastien Courrier, Virginie Kergourlay, Svetlana Gorokhova, Mathieu Cerino, Martin Krahn, Nicolas Lévy, Marc Bartoli
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-11-01
Series:Frontiers in Cell and Developmental Biology
Subjects:
membrane
calpain (CAPN)
dysferlin
dysferlinopathies
neuromuscular disease
Online Access:https://www.frontiersin.org/articles/10.3389/fcell.2021.754555/full

Internet

https://www.frontiersin.org/articles/10.3389/fcell.2021.754555/full

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