Article
A role of OCRL in clathrin-coated pit dynamics and uncoating revealed by studies of Lowe syndrome cells.
eLife - 8 Aug 2014
Nández Ramiro, Balkin Daniel M, Messa Mirko, Liang Liang, Paradise Summer, Czapla Heather, Hein Marco Y, Duncan James S, Mann Matthias, De Camilli Pietro
Abstract excerpt
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...
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