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A disease-associated frameshift mutation in caveolin-1 disrupts caveolae formation and function through introduction of a de novo ER retention signal

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 as...

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Vydáno v:Mol Biol Cell
Hlavní autoři: Copeland, Courtney A., Han, Bing, Tiwari, Ajit, Austin, Eric D., Loyd, James E., West, James D., Kenworthy, Anne K.
Médium: Artigo
Jazyk:Inglês
Vydáno: The American Society for Cell Biology 2017
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5662265/
https://ncbi.nlm.nih.gov/pubmed/28904206
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1091/mbc.E17-06-0421
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