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Article

Evidence of a role of inositol polyphosphate 5-phosphatase INPP5E in cilia formation in zebrafish.

Vision research - 15 Dec 2012

Luo Na, Lu Jingping, Sun Yang

Abstract excerpt

Inositol phosphatases are important regulators of cell signaling and membrane trafficking. Mutations in inositol polyphosphate 5-phosphatase, INPP5E, have been identified in Joubert syndrome, a rare congenital disorder characterized by midbrain malformation, retinitis pigmentosa, renal cysts, and polydactyly. Previous studies have implicated primary cilia abnormalities in Joubert syndrome, yet the role of INPP5E...

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Identifiers

PMID: 23022135
DOI: 10.1016/j.visres.2012.09.011
PMCID: PMC3514577

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Research trail→

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Evidence of a role of inositol polyphosphate 5-phosphatase INPP5E in cilia formation in zebrafish.PMID 23022135Read ↗

Regulation of INPP5E in Ciliogenesis, Development, and Disease.Semantic proximity Read ↗

Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies.Semantic proximity Read ↗

Defective ciliogenesis in INPP5E-related Joubert syndrome.Semantic proximity Read ↗

INPP5E regulates phosphoinositide-dependent cilia transition zone function.Semantic proximity Read ↗

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

INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse.Semantic proximity Read ↗

Inositol polyphosphate 5-phosphatases; new players in the regulation of cilia and ciliopathies.Semantic proximity Read ↗

Loss of INPP5E affects photoreceptor outer segment membrane biogenesis in iPSC-derived human retinal organoidsSemantic proximity Read ↗

Inpp5e Is Critical for Photoreceptor Outer Segment MaintenanceSemantic proximity Read ↗

INPP5E interacts with AURKA, linking phosphoinositide signaling to primary cilium stability.Semantic proximity Read ↗

Utilization of automated cilia analysis to characterize novel INPP5E variants in patients with non-syndromic retinitis pigmentosa.Semantic proximity Read ↗

INPP5E controls ciliary localization of phospholipids and odor response kinetics in a mouse model of Joubert syndromeSemantic proximity Read ↗

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