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

Copeland CA, Han B, Tiwari A, Austin ED, Loyd JE, West JD, Kenworthy AK
Mol Biol Cell. 2017 28 (22): 3095-3111

PMID: 28904206 · PMCID: PMC5662265 · DOI:10.1091/mbc.E17-06-0421

MeSH Terms (10)

Caveolae Caveolin 1 Endocytosis Endoplasmic Reticulum Fibroblasts Frameshift Mutation Humans Hypertension, Pulmonary Mutation Protein Transport

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