Article

The Role of Integrin β1D Mislocalization in the Pathophysiology of Calpain 3-Related Limb–Girdle Muscular Dystrophy

2025-02-03

Abstract excerpt

Limb–girdle muscular dystrophy R1 (LGMDR1) is characterized by progressive proximal muscle weakness due to mutations in the CAPN3 gene. Little is known about calpain 3 (CAPN3) function in muscle, but its loss results in aberrant sarcomere formation. Human muscle structure was analyzed in this study, with observed integrin β1D isoform (ITGβ1D) mislocalization, a lack of talin 1 (TLN1) in the sarcolemma, and the irr...

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Literature Corpus work: 9f6ed1ba-2874-5974-a5e8-5a4160e4c9c5
DOI: 10.20944/preprints202501.2355.v1

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