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Article

Characterization of a caveolin-1 mutation associated with both pulmonary arterial hypertension and congenital generalized lipodystrophy.

Traffic (Copenhagen, Denmark) - 1 Dec 2016

Han Bing, Copeland Courtney A, Kawano Yumeko, Rosenzweig Erika Berman, Austin Eric D, Shahmirzadi Layla, Tang Sha, Raghunathan Krishnan, Chung Wendy K, Kenworthy Anne K

Abstract excerpt

Congenital generalized lipodystrophy (CGL) and pulmonary arterial hypertension (PAH) have recently been associated with mutations in the caveolin-1 ( CAV1 ) gene, which encodes the primary structural protein of caveolae. However, little is currently known about how these CAV1 mutations impact caveolae formation or contribute to the development of disease. Here, we identify a heterozygous F160X CAV1 mutation...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 27717241
DOI: 10.1111/tra.12452
PMCID: PMC5197452

Genes

CAV1
PAH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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