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Article

Aberrant dysferlin trafficking in cells lacking caveolin or expressing dystrophy mutants of caveolin-3.

Human molecular genetics - 1 Jan 2006

Hernández-Deviez Delia J, Martin Sally, Laval Steven H, Lo Harriet P, Cooper Sandra T, North Kathryn N, Bushby Kate, Parton Robert G

Abstract excerpt

Mutations in the dysferlin (DYSF) and caveolin-3 (CAV3) genes are associated with muscle disease. Dysferlin is mislocalized, by an unknown mechanism, in muscle from patients with mutations in caveolin-3 (Cav-3). To examine the link between Cav-3 mutations and dysferlin mistargeting, we studied their localization at high resolution in muscle fibers, in a model muscle cell line, and upon heterologous expression of...

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Share to Caveolin 3
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 16319126
DOI: 10.1093/hmg/ddi434

Genes

CAV3
DYSF

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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