Ontology highlight
ABSTRACT:
SUBMITTER: Dewulf M
PROVIDER: S-EPMC6488599 | biostudies-literature | 2019 Apr
REPOSITORIES: biostudies-literature
Dewulf Melissa M Köster Darius Vasco DV Sinha Bidisha B Viaris de Lesegno Christine C Chambon Valérie V Bigot Anne A Bensalah Mona M Negroni Elisa E Tardif Nicolas N Podkalicka Joanna J Johannes Ludger L Nassoy Pierre P Butler-Browne Gillian G Lamaze Christophe C Blouin Cedric M CM
Nature communications 20190429 1
Caveolin-3 is the major structural protein of caveolae in muscle. Mutations in the CAV3 gene cause different types of myopathies with altered membrane integrity and repair, expression of muscle proteins, and regulation of signaling pathways. We show here that myotubes from patients bearing the CAV3 P28L and R26Q mutations present a dramatic decrease of caveolae at the plasma membrane, resulting in abnormal response to mechanical stress. Mutant myotubes are unable to buffer the increase in membra ...[more]