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Article

Regulation of INPP5E in Ciliogenesis, Development, and Disease.

International journal of biological sciences - 1 Jan 2025

Hakeem Abdulaziz, Yang Shuying

Abstract excerpt

Inositol polyphosphate-5-phosphatase E (INPP5E) is a 5-phosphatase critically involved in diverse physiological processes, including embryonic development, neurological function, immune regulation, hemopoietic cell dynamics, and macrophage proliferation, differentiation, and phagocytosis. Mutations in INPP5E cause Joubert and Meckel-Gruber syndromes in humans; these are characterized by brain malformations,...

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Identifiers

PMID: 39781470
DOI: 10.7150/ijbs.99010
PMCID: PMC11705637

Genes

INPP5E

Provenance

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Related research

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Regulation of INPP5E in Ciliogenesis, Development, and Disease.PMID 39781470Read ↗

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

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

Defective ciliogenesis in INPP5E-related Joubert syndrome.Semantic 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 ↗

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

Multiple Ciliary Localization Signals Control INPP5E Ciliary TargetingSemantic proximity Read ↗

The Phosphoinositide 5-Phosphatase inpp5k: From Gene Structure to <em>in Vivo</em> FunctionsSemantic proximity Read ↗

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

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

The phosphoinositide 5-phosphatase INPP5K: From gene structure to in vivo functions.Semantic proximity Read ↗

Regulation of lysosomal phosphoinositide balance by INPP5E is essential for autophagosome-lysosome fusion.Semantic proximity Read ↗

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