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Article

A structural basis for Lowe syndrome caused by mutations in the Rab-binding domain of OCRL1.

The EMBO journal - 20 Apr 2011

Hou Xiaomin, Hagemann Nina, Schoebel Stefan, Blankenfeldt Wulf, Goody Roger S, Erdmann Kai S, Itzen Aymelt

Abstract excerpt

The oculocerebrorenal syndrome of Lowe (OCRL), also called Lowe syndrome, is characterized by defects of the nervous system, the eye and the kidney. Lowe syndrome is a monogenetic X-linked disease caused by mutations of the inositol-5-phosphatase OCRL1. OCRL1 is a membrane-bound protein recruited to membranes via interaction with a variety of Rab proteins. The structural and kinetic basis of OCRL1 for the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 21378754
DOI: 10.1038/emboj.2011.60
PMCID: PMC3102282

Genes

ASPM
OCRL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

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A structural basis for Lowe syndrome caused by mutations in the Rab-binding domain of OCRL1.PMID 21378754Read ↗

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

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

Insights into the Effect of Lowe Syndrome-Causing Mutation p.Asn591Lys of OCRL-1 through Protein-Protein Interaction Networks and Molecular Dynamics Simulations.Semantic proximity Read ↗

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

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

Two closely related endocytic proteins that share a common OCRL-binding motif with APPL1Semantic proximity Read ↗

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

Inositol 5-phosphatases: insights from the Lowe syndrome protein OCRLSemantic proximity Read ↗

All known patient mutations in the ASH-RhoGAP domains of OCRL affect targeting and APPL1 binding.Semantic proximity Read ↗

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

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

Genotype & phenotype in Lowe Syndrome: specific OCRL1 patient mutations differentially impact cellular phenotypes.Semantic proximity Read ↗

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