- A disease-associated frameshift mutation in caveolin-1 disrupts caveolae formation and function through introduction of a de novo ER retention signal.
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 (2017-09-15)
Courtney A Copeland, Bing Han, Ajit Tiwari, Eric D Austin, James E Loyd, James D West, Anne K Kenworthy
PMID28904206
摘要
Caveolin-1 (CAV1) is an essential component of caveolae and is implicated in numerous physiological processes. Recent studies have identified heterozygous mutations in the