A role of OCRL in clathrin-coated pit dynamics and uncoating revealed by studies of Lowe syndrome cells

@inproceedings{Nndez2014ARO,
  title={A role of OCRL in clathrin-coated pit dynamics and uncoating revealed by studies of Lowe syndrome cells},
  author={Ramiro N{\'a}ndez and Daniel M. Balkin and Mirko Messa and Liang Liang and Summer Paradise and Heather Czapla and Marco Y Hein and James S. Duncan and Matthias Mann and Pietro De Camilli},
  booktitle={eLife},
  year={2014}
}
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… CONTINUE READING
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