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Article

Oligomer-dependent and oligomer-independent pathogenesis of muscular dystrophy-associated mutations within the penta-EF-hand domain of calpain-3.

The Journal of biological chemistry - 1 Apr 2026

Hisatsune Chihiro, Shinkai-Ouchi Fumiko, Hata Shoji, Ono Yasuko

Abstract excerpt

Limb-girdle muscular dystrophy R1 (LGMDR1) is an autosomal recessive disorder caused by dysfunction of calpain-3 (CAPN3; also known as p94), a muscle-specific, Ca2+-dependent cysteine protease. LGMDR1 mutations are distributed throughout the Capn3 gene. Nevertheless, our knowledge of the biochemical and biological properties of individual LGMDR1 mutants is limited, hindering a full understanding of LGMDR1...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Muscular Dystrophies, Limb-Girdle

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Source

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Identifiers

PMID: 41690592
DOI: 10.1016/j.jbc.2026.111277
PMCID: PMC12996665

Genes

CAPN3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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