Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Caveolin-3 deficiency associated with the dystrophy P104L mutation impairs skeletal muscle mitochondrial form and function.

Journal of cachexia, sarcopenia and muscle - 1 Jun 2020

Shah Dinesh S, Nisr Raid B, Stretton Clare, Krasteva-Christ Gabriela, Hundal Harinder S

Abstract excerpt

BACKGROUND: Caveolin-3 (Cav3) is the principal structural component of caveolae in skeletal muscle. Dominant pathogenic mutations in the Cav3 gene, such as the Limb Girdle Muscular Dystrophy-1C (LGMD1C) P104L mutation, result in substantial loss of Cav3 and myopathic changes characterized by muscle weakness and wasting. We hypothesize such myopathy may also be associated with disturbances in mitochondrial...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Caveolin 3
Share to Mice

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mice, Knockout

Share to Muscle, Skeletal

Share to Muscular Dystrophies, Limb-Girdle

Share to Mutation

Share to Transfection

Source

Open in PubMed Open full text

Identifiers

PMID: 32090499
DOI: 10.1002/jcsm.12541
PMCID: PMC7296273

Provenance

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

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Caveolin-3 deficiency associated with the dystrophy P104L mutation impairs skeletal muscle mitochondrial form and function.PMID 32090499Read ↗

Caveolin-3 loss linked with the P104L LGMD-1C mutation modulates skeletal muscle mTORC1 signalling and cholesterol homeostasis.Semantic proximity Read ↗

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

Transgenic overexpression of caveolin-3 in skeletal muscle fibers induces a Duchenne-like muscular dystrophy phenotype.Semantic proximity Read ↗

Loss of caveolin-3 induced by the dystrophy-associated P104L mutation impairs L-type calcium channel function in mouse skeletal muscle cells.Semantic proximity Read ↗

Caveolinopathies: from the biology of caveolin-3 to human diseases.Semantic proximity Read ↗

BIN1 overexpression rescues cardiac but not skeletal muscle defects in a mouse model of caveolinopathySemantic proximity Read ↗

Biochemical and pathological changes result from mutated Caveolin-3 in muscle.Semantic proximity Read ↗

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

Molecular and muscle pathology in a series of caveolinopathy patients.Semantic proximity Read ↗

Caveolin-3 deficiency causes muscle degeneration in mice.Semantic proximity Read ↗

Caveolae and caveolin-3 in muscular dystrophy.Semantic proximity Read ↗

Caveolin-3 null mice show a loss of caveolae, changes in the microdomain distribution of the dystrophin-glycoprotein complex, and t-tubule abnormalities.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.