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Article

Dysferlin in a hyperCKaemic patient with caveolin 3 mutation and in C2C12 cells after p38 MAP kinase inhibition.

Experimental & molecular medicine - 31 Dec 2003

Capanni Cristina, Sabatelli Patrizia, Mattioli Elisabetta, Ognibene Andrea, Columbaro Marta, Lattanzi Giovanna, Merlini Luciano, Minetti Carlo, Maraldi Nadir M, Squarzoni Stefano

Abstract excerpt

Dysferlin is a plasma membrane protein of skeletal muscle whose deficiency causes Miyoshi myopathy, limb girdle muscular dystrophy 2B and distal anterior compartment myopathy. Recent studies have reported that dysferlin is implicated in membrane repair mechanism and coimmunoprecipitates with cave...

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Source

Identifiers

PMID: 14749532
DOI: 10.1038/emm.2003.70

Genes

CAV3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-14749532-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

Related research

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Dysferlin in a hyperCKaemic patient with caveolin 3 mutation and in C2C12 cells after p38 MAP kinase inhibition.PMID 14749532Read ↗

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Aberrant dysferlin trafficking in cells lacking caveolin or expressing dystrophy mutants of caveolin-3.Semantic proximity Read ↗

Caveolin regulates endocytosis of the muscle repair protein, dysferlin.Semantic proximity Read ↗

Calcium-sensitive phospholipid binding properties of normal and mutant ferlin C2 domains.Semantic proximity Read ↗

Dysferlin function in skeletal muscle: Possible pathological mechanisms and therapeutical targets in dysferlinopathies.Semantic proximity Read ↗

Proteomic investigation of the molecular pathophysiology of dysferlinopathy.Semantic proximity Read ↗

Dysferlin interacts with annexins A1 and A2 and mediates sarcolemmal wound-healing.Semantic proximity Read ↗

AHNAK, a novel component of the dysferlin protein complex, redistributes to the cytoplasm with dysferlin during skeletal muscle regeneration.Semantic proximity Read ↗

A Role for Caveolin-3 in the Pathogenesis of Muscular Dystrophies.Semantic proximity Read ↗

Caveolinopathies: translational implications of caveolin-3 in skeletal and cardiac muscle disorders.Semantic proximity Read ↗

Calpain 3 is a modulator of the dysferlin protein complex in skeletal muscleSemantic proximity Read ↗

Membrane repair defects in muscular dystrophy are linked to altered interaction between MG53, caveolin-3, and dysferlin.Semantic proximity Read ↗

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