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

doi:10.1038/ng.423

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Article

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

Nature genetics - 1 Sept 2009

Bielas Stephanie L, Silhavy Jennifer L, Brancati Francesco, Kisseleva Marina V, Al-Gazali Lihadh, Sztriha Laszlo, Bayoumi Riad A, Zaki Maha S, Abdel-Aleem Alice, Rosti Rasim Ozgur, Kayserili Hulya, Swistun Dominika, Scott Lesley C, Bertini Enrico, Boltshauser Eugen, Fazzi Elisa, Travaglini Lorena, Field Seth J, Gayral Stephanie, Jacoby Monique, Schurmans Stephane, Dallapiccola Bruno, Majerus Philip W, Valente Enza Maria, Gleeson Joseph G

Abstract excerpt

Phosphotidylinositol (PtdIns) signaling is tightly regulated both spatially and temporally by subcellularly localized PtdIns kinases and phosphatases that dynamically alter downstream signaling events. Joubert syndrome is characterized by a specific midbrain-hindbrain malformation ('molar tooth sign'), variably associated retinal dystrophy, nephronophthisis, liver fibrosis and polydactyly and is included in the...

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PMID: 19668216
DOI: 10.1038/ng.423
PMCID: PMC2746682

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Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies.PMID 19668216Read ↗

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

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

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

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

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

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

Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders.Semantic proximity Read ↗

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

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

Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment.Semantic proximity Read ↗

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

Multiple Ciliary Localization Signals Control INPP5E Ciliary TargetingSemantic proximity Read ↗

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