Article
All known patient mutations in the ASH-RhoGAP domains of OCRL affect targeting and APPL1 binding.
Biochemical and biophysical research communications - 2 May 2008
McCrea Heather J, Paradise Summer, Tomasini Livia, Addis Maria, Melis Maria Antonietta, De Matteis Maria Antonietta, De Camilli Pietro
Abstract excerpt
Mutations in the inositol 5-phosphatase OCRL are responsible for Lowe syndrome, an X-linked disorder characterized by bilateral cataracts, mental retardation, neonatal hypotonia, and renal Fanconi syndrome, and for Dent disease, another X-linked condition characterized by kidney reabsorption defects. We have previously described an interaction of OCRL with the endocytic adaptor APPL1 that links OCRL to protein...
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