Author

Jeffrey S. Chamberlain

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Open access Sep 2026

CaMKIIβ Signaling drives expression of metabolic and stress response genes in skeletal muscle, and its loss contributes to the LGMDR1 phenotype

Abstract Calcium calmodulin kinase II (CaMKII) signaling is activated by muscle use and drives gene expression that promotes slow oxidative muscle phenotype. Previously, we showed that the calpain 3 knockout (C3KO) mouse model of limb girdle muscular dystrophy R1 (LGMDR1) exhibits impaired slow-oxidative gene expressio...

I. Kramerova, Frieda Anastopulos, Diana Becerra et al. · Human Molecular Genetics · 0 citations

Review Open access Jul 2026

Duchenne muscular dystrophy: from gene to gene-ius therapies

Duchenne muscular dystrophy (DMD) is a severe X-linked neuromuscular disorder caused by mutations in the dystrophin gene that result in the absence of functional dystrophin, leading to progressive muscle degeneration, loss of ambulation, respiratory failure, cardiomyopathy, and premature mortality. Despite advances in...

Antoine Muchir, A. Musarò, Jeffrey S. Chamberlain · Skeletal Muscle · 0 citations