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Article

Rescue of neurodegeneration in the Fig4 null mouse by a catalytically inactive FIG4 transgene.

Human molecular genetics - 15 Jan 2016

Lenk Guy M, Frei Christen M, Miller Ashley C, Wallen Rachel C, Mironova Yevgeniya A, Giger Roman J, Meisler Miriam H

Abstract excerpt

The lipid phosphatase FIG4 is a subunit of the protein complex that regulates biosynthesis of the signaling lipid PI(3,5)P2. Mutations of FIG4 result in juvenile lethality and spongiform neurodegeneration in the mouse, and are responsible for the human disorders Charcot-Marie-Tooth disease, Yunis-Varon syndrome and polymicrogyria with seizures. We previously demonstrated that conditional expression of a wild-type...

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Identifiers

PMID: 26604144
DOI: 10.1093/hmg/ddv480
PMCID: PMC4706117

Genes

FIG4

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Rescue of neurodegeneration in the Fig4 null mouse by a catalytically inactive FIG4 transgene.PMID 26604144Read ↗

Protective role of the lipid phosphatase Fig4 in the adult nervous system.Semantic proximity Read ↗

Mutation of FIG4 causes a rapidly progressive, asymmetric neuronal degeneration.Semantic proximity Read ↗

Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J.Semantic proximity Read ↗

FIG4 regulates lysosome membrane homeostasis independent of phosphatase function.Semantic proximity Read ↗

Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase.Semantic proximity Read ↗

Mouse models of PI(3,5)P2 deficiency with impaired lysosome function.Semantic proximity Read ↗

Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria.Semantic proximity Read ↗

Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS.Semantic proximity Read ↗

Novel FIG4 mutations in Yunis-Varon syndrome.Semantic proximity Read ↗

Pathogenic mechanism of the FIG4 mutation responsible for Charcot-Marie-Tooth disease CMT4J.Semantic proximity Read ↗

Clinical and radiological characterization of novel FIG4-related combined system disease with neuropathy.Semantic proximity Read ↗

Altered phenotypes due to genetic interaction between the mouse phosphoinositide biosynthesis genes Fig4 and Pip4k2c.Semantic proximity Read ↗

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