Ontology highlight
ABSTRACT:
SUBMITTER: Nandez R
PROVIDER: S-EPMC4358339 | biostudies-literature | 2014 Aug
REPOSITORIES: biostudies-literature
eLife 20140808
Mutations in the inositol 5-phosphatase OCRL cause Lowe syndrome and Dent's disease. Although OCRL, a direct clathrin interactor, is recruited to late-stage clathrin-coated pits, clinical manifestations have been primarily attributed to intracellular sorting defects. Here we show that OCRL loss in Lowe syndrome patient fibroblasts impacts clathrin-mediated endocytosis and results in an endocytic defect. These cells exhibit an accumulation of clathrin-coated vesicles and an increase in U-shaped c ...[more]