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Article

The deficiency of PIP2 5-phosphatase in Lowe syndrome affects actin polymerization.

American journal of human genetics - 1 Dec 2002

Suchy Sharon F, Nussbaum Robert L

Abstract excerpt

Lowe syndrome is a rare X-linked disorder characterized by bilateral congenital cataracts, renal Fanconi syndrome, and mental retardation. Lowe syndrome results from mutations in the OCRL1 gene, which encodes a phosphatidylinositol 4,5 bisphosphate 5-phosphatase located in the trans-Golgi network...

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Identifiers

PMID: 12428211
DOI: 10.1086/344517
PMCID: PMC378584

Genes

PIP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-12428211-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

The deficiency of PIP2 5-phosphatase in Lowe syndrome affects actin polymerization.PMID 12428211Read ↗

Structure and function of the Lowe syndrome protein OCRL1.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 ↗

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

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

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 ↗

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

Oculocerebrorenal syndrome of Lowe protein controls cytoskeletal reorganisation during human platelet spreading.Semantic proximity Read ↗

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

A role of the Lowe syndrome protein OCRL in early steps of the endocytic pathway.Semantic proximity Read ↗

Role of oculocerebrorenal syndrome of Lowe (OCRL) protein in megakaryocyte maturation, platelet production and functions: a study in patients with Lowe syndrome.Semantic proximity Read ↗

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