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Article

Kidney Tubular Ablation of Ocrl/Inpp5b Phenocopies Lowe Syndrome Tubulopathy.

Journal of the American Society of Nephrology : JASN - 1 May 2017

Inoue Kazunori, Balkin Daniel M, Liu Lijuan, Nandez Ramiro, Wu Yumei, Tian Xuefei, Wang Tong, Nussbaum Robert, De Camilli Pietro, Ishibe Shuta

Abstract excerpt

Lowe syndrome and Dent disease are two conditions that result from mutations of the inositol 5-phosphatase oculocerebrorenal syndrome of Lowe (OCRL) and share the feature of impaired kidney proximal tubule function. Genetic ablation of Ocrl in mice failed to recapitulate the human phenotypes, possibly because of the redundant functions of OCRL and its paralog type 2 inositol polyphosphate-5-phosphatase (INPP5B)....

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Share to Cellular transport and secretion
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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: 27895154
DOI: 10.1681/ASN.2016080913
PMCID: PMC5407733

Genes

OCRL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

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Kidney Tubular Ablation of Ocrl/Inpp5b Phenocopies Lowe Syndrome Tubulopathy.PMID 27895154Read ↗

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Receptor-mediated endocytosis and endosomal acidification is impaired in proximal tubule epithelial cells of Dent disease patients.Semantic proximity Read ↗

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

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

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

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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.Semantic proximity Read ↗

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