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Article

Loss of OCRL increases ciliary PI(4,5)P2 in Lowe oculocerebrorenal syndrome

5 Sept 2017

Abstract excerpt

ABSTRACT Lowe syndrome is a rare X-linked disorder characterized by bilateral congenital cataracts and glaucoma, mental retardation, and proximal renal tubular dysfunction. Mutations in OCRL, an inositol polyphosphate 5-phosphatase that dephosphorylates PI(4,5)P2, cause Lowe syndrome. Previously we showed that OCRL localizes to the primary cilium, which has a distinct membrane phospholipid composition, but...

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PMID: 28871046
DOI: 10.1242/jcs.200857

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Related research

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Click a neighbor to travelStep 1 · 12 closest

Loss of OCRL increases ciliary PI(4,5)P2 in Lowe oculocerebrorenal syndromePMID 28871046Read ↗

Compensatory Role of Inositol 5-Phosphatase INPP5B to OCRL in Primary Cilia Formation in Oculocerebrorenal Syndrome of LoweSemantic proximity Read ↗

OCRL localizes to the primary cilium: a new role for cilia in Lowe syndrome.Semantic proximity Read ↗

The cellular and physiological functions of the Lowe syndrome protein OCRL1.Semantic proximity Read ↗

Ocular Pathology of Oculocerebrorenal Syndrome of Lowe: Novel Mutations and Genotype-Phenotype Analysis.Semantic proximity Read ↗

Structure and function of the Lowe syndrome protein OCRL1.Semantic proximity Read ↗

Inositol polyphosphate 5-phosphatases; new players in the regulation of cilia and ciliopathies.Semantic proximity Read ↗

The 5-phosphatase OCRL in Lowe syndrome and Dent disease 2.Semantic proximity Read ↗

OCRL-mutated fibroblasts from patients with Dent-2 disease exhibit INPP5B-independent phenotypic variability relatively to Lowe syndrome cells.Semantic proximity Read ↗

Investigating the role of OCRL, the gene mutated in Lowe syndrome, in neuronsSemantic proximity Read ↗

Functional overlap between murine Inpp5b and Ocrl1 may explain why deficiency of the murine ortholog for OCRL1 does not cause Lowe syndrome in mice.Semantic proximity Read ↗

Lowe syndrome patient cells display mTOR- and RhoGTPase-dependent phenotypes alleviated by rapamycin and statins.Semantic proximity Read ↗

The oculocerebrorenal syndrome of Lowe: an update.Semantic proximity Read ↗

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