CFTR corrector C17 rescues defective SERCA1 in bovine pseudomyotonia: a potential therapy for Brody myopathy.

ABSTRACT: Brody myopathy is an ultra-rare autosomal recessive inherited disorder that impairs skeletal muscle function in humans. It is caused by deficiency of the Sarco(Endo)plasmic reticulum Ca2+-ATPase isoform1 (SERCA1), arising from defects, mainly missense mutations, in the ATP2A1 gene. At present, neither specific therapy, nor mouse model exists for Brody myopathy. Bovine pseudomyotonia (PMT) is a very rare skeletal muscle disorder. As Brody myopathy, it is an autosomal recessive inherited disorder caused by missense variants in the atp2a1 gene. Most mutations generate proteins corrupted in proper folding that although catalytically active, were ubiquitinated and prematurely degraded by the ubiquitin-proteasome system, thus sharing with Cystic Fibrosis the same pathogenetic mechanism. Bovine P

SUBMITTER: Akyurek EE 

PROVIDER: S-EPMC12681263 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature