Article
OCRL-mutated fibroblasts from patients with Dent-2 disease exhibit INPP5B-independent phenotypic variability relatively to Lowe syndrome cells.
Human molecular genetics - 15 Feb 2015
Montjean Rodrick, Aoidi Rifdat, Desbois Pierrette, Rucci Julien, Trichet Michaël, Salomon Rémi, Rendu John, Fauré Julien, Lunardi Joël, Gacon Gérard, Billuart Pierre, Dorseuil Olivier
Abstract excerpt
OCRL mutations are associated with both Lowe syndrome and Dent-2 disease, two rare X-linked conditions. Lowe syndrome is an oculo-cerebro-renal disorder, whereas Dent-2 patients mainly present renal proximal tubulopathy. Loss of OCRL-1, a phosphoinositide-5-phosphatase, leads in Lowe patients' fibroblasts to phosphatidylinositol-4,5-bisphosphate (PI(4,5)P2) accumulation, with defects in F-actin network, α-actinin...
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