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Article

Compensatory Role of Inositol 5-Phosphatase INPP5B to OCRL in Primary Cilia Formation in Oculocerebrorenal Syndrome of Lowe

21 Jun 2013

Abstract excerpt

Inositol phosphatases are important regulators of cell signaling, polarity, and vesicular trafficking. Mutations in OCRL, an inositol polyphosphate 5-phosphatase, result in Oculocerebrorenal syndrome of Lowe, an X-linked recessive disorder that presents with congenital cataracts, glaucoma, renal dysfunction and mental retardation. INPP5B is a paralog of OCRL and shares similar structural domains. The roles of...

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PMID: 23805271
DOI: 10.1371/journal.pone.0066727

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Related research

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Compensatory Role of Inositol 5-Phosphatase INPP5B to OCRL in Primary Cilia Formation in Oculocerebrorenal Syndrome of LowePMID 23805271Read ↗

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

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

Evidence of a role of inositol polyphosphate 5-phosphatase INPP5E in cilia formation in zebrafish.Semantic proximity Read ↗

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

Regulation of INPP5E in Ciliogenesis, Development, and Disease.Semantic proximity Read ↗

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

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

Species-specific difference in expression and splice-site choice in Inpp5b, an inositol polyphosphate 5-phosphatase paralogous to the enzyme deficient in Lowe Syndrome.Semantic proximity Read ↗

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

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

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

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