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Article

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

The Journal of clinical investigation - 15 May 1998

Jänne P A, Suchy S F, Bernard D, MacDonald M, Crawley J, Grinberg A, Wynshaw-Boris A, Westphal H, Nussbaum R L

Abstract excerpt

The oculocerebrorenal syndrome of Lowe (OCRL) is an X-linked human genetic disorder characterized by mental retardation, congenital cataracts, and renal tubular dysfunction. The Lowe syndrome gene, OCRL1, encodes a phosphatidylinositol 4,5-bisphosphate 5-phosphatase in the Golgi complex. The pathogenesis of Lowe syndrome due to deficiency of a phosphatidylinositol 4,5-bisphosphate 5-phosphatase in the Golgi...

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Source

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Identifiers

PMID: 9593760
DOI: 10.1172/JCI2414
PMCID: PMC508792

Genes

OCRL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Functional overlap between murine Inpp5b and Ocrl1 may explain why deficiency of the murine ortholog for OCRL1 does not cause Lowe syndrome in mice.PMID 9593760Read ↗

Mouse model for Lowe syndrome/Dent Disease 2 renal tubulopathy.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 ↗

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

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

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

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

A novel OCRL1 mutation in a patient with the mild phenotype of Lowe syndrome.Semantic proximity Read ↗

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

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

Dent Disease with mutations in OCRL1.Semantic proximity Read ↗

Kidney Tubular Ablation of Ocrl/Inpp5b Phenocopies Lowe Syndrome Tubulopathy.Semantic proximity Read ↗

Characterization of a germline mosaicism in families with Lowe syndrome, and identification of seven novel mutations in the OCRL1 gene.Semantic proximity Read ↗

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