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Lowe syndrome patient fibroblasts display Ocrl1-specific cell migration defects that cannot be rescued by the homologous Inpp5b phosphatase

21 Aug 2009

Abstract excerpt

The Lowe syndrome (LS) is a life-threatening, developmental disease characterized by mental retardation, cataracts and renal failure. Although this human illness has been linked to defective function of the phosphatidylinositol 5-phosphatase, Ocrl1 (Oculo-Cerebro-Renal syndrome of Lowe protein 1), the mechanism by which this enzyme deficiency triggers the disease is not clear. Ocrl1 is known to localize mainly to...

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PMID: 19700499
DOI: 10.1093/hmg/ddp407

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Lowe syndrome patient fibroblasts display Ocrl1-specific cell migration defects that cannot be rescued by the homologous Inpp5b phosphatasePMID 19700499Read ↗

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The PH domain proteins IPIP27A and B link OCRL1 to receptor recycling in the endocytic pathway.Semantic proximity Read ↗

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