Article
BIN1 overexpression rescues cardiac but not skeletal muscle defects in a mouse model of caveolinopathy
2025-09-30
Abstract excerpt
<h4>ABSTRACT</h4> <h4>Background</h4> Mutations in CAV3 , encoding caveolin-3, cause caveolinopathies, rare genetic disorders affecting both skeletal and cardiac muscle. Caveolin-3 contributes to T-tubule formation and excitation-contraction coupling. BIN1 (amphiphysin 2), a membrane-shaping protein critical for T-tubule integrity, has shown therapeutic promise in congenital myopathies and heart dysfunction. To...
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Identifiers and source
- Literature Corpus work
- e7e9e5fe-8b44-5c4e-a31c-d26ad8e2277a
- DOI
- 10.1101/2025.09.26.678914
