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On the role of dysferlin in striated muscle: membrane repair, t‐tubules and Ca2+ handling

14 Apr 2024

Abstract excerpt

Abstract Dysferlin is a 237 kDa membrane‐associated protein characterised by multiple C2 domains with a diverse role in skeletal and cardiac muscle physiology. Mutations in DYSF are known to cause various types of human muscular dystrophies, known collectively as dysferlinopathies, with some patients developing cardiomyopathy. A myriad of in vitro membrane repair studies suggest that dysferlin plays an integral...

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PMID: 38615232
DOI: 10.1113/jp285103

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