Article
A disease-associated frameshift mutation in caveolin-1 disrupts caveolae formation and function through introduction of a de novo ER retention signal.
Molecular biology of the cell - 1 Nov 2017
Copeland Courtney A, Han Bing, Tiwari Ajit, Austin Eric D, Loyd James E, West James D, Kenworthy Anne K
Abstract excerpt
Caveolin-1 (CAV1) is an essential component of caveolae and is implicated in numerous physiological processes. Recent studies have identified heterozygous mutations in the CAV1 gene in patients with pulmonary arterial hypertension (PAH), but the mechanisms by which these mutations impact caveolae assembly and contribute to disease remain unclear. To address this question, we examined the consequences of a...
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