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Article

Failure to up-regulate transcription of genes necessary for muscle adaptation underlies limb girdle muscular dystrophy 2A (calpainopathy).

Human molecular genetics - 1 Jun 2016

Kramerova Irina, Ermolova Natalia, Eskin Ascia, Hevener Andrea, Quehenberger Oswald, Armando Aaron M, Haller Ronald, Romain Nadine, Nelson Stanley F, Spencer Melissa J

Abstract excerpt

Limb girdle muscular dystrophy 2A is due to loss-of-function mutations in the Calpain 3 (CAPN3) gene. Our previous data suggest that CAPN3 helps to maintain the integrity of the triad complex in skeletal muscle. In Capn3 knock-out mice (C3KO), Ca2+ release and Ca2+/calmodulin kinase II (CaMKII) signaling are attenuated. We hypothesized that calpainopathy may result from a failure to transmit loading-induced...

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Share to Calcium-Calmodulin-Dependent Protein Kinase Type 2
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Muscle Proteins

Share to Muscular Dystrophies, Limb-Girdle

Share to p38 Mitogen-Activated Protein Kinases

Share to Peroxisome Proliferator-Activated Receptor Gamma Coactivator 1-alpha

Share to Transcriptional Activation

Source

Open in PubMed Open full text

Identifiers

PMID: 27005420
DOI: 10.1093/hmg/ddw086
PMCID: PMC5081050

Genes

CAPN3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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