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Article

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

Human molecular genetics - 1 Aug 2012

Luo Na, West Callah C, Murga-Zamalloa Carlos A, Sun Lou, Anderson Ryan M, Wells Clark D, Weinreb Robert N, Travers Jeffrey B, Khanna Hemant, Sun Yang

Abstract excerpt

Oculocerebral renal syndrome of Lowe (OCRL or Lowe syndrome), a severe X-linked congenital disorder characterized by congenital cataracts and glaucoma, mental retardation and kidney dysfunction, is caused by mutations in the OCRL gene. OCRL is a phosphoinositide 5-phosphatase that interacts with...

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Source

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Identifiers

PMID: 22543976
DOI: 10.1093/hmg/dds163
PMCID: PMC3392109

Genes

OCRL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22543976-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

OCRL localizes to the primary cilium: a new role for cilia in Lowe syndrome.PMID 22543976Read ↗

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

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

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

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

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

The Lowe Syndrome Protein OCRL1 Is Required for Endocytosis in the Zebrafish Pronephric TubuleSemantic proximity Read ↗

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

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

OCRL regulates lysosomal function and endolysosomal homeostasis in Drosophila nephrocytesSemantic proximity Read ↗

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

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