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Article

Pathogenic mechanism of the FIG4 mutation responsible for Charcot-Marie-Tooth disease CMT4J.

PLoS genetics - 1 Jun 2011

Lenk Guy M, Ferguson Cole J, Chow Clement Y, Jin Natsuko, Jones Julie M, Grant Adrienne E, Zolov Sergey N, Winters Jesse J, Giger Roman J, Dowling James J, Weisman Lois S, Meisler Miriam H

Abstract excerpt

CMT4J is a severe form of Charcot-Marie-Tooth neuropathy caused by mutation of the phosphoinositide phosphatase FIG4/SAC3. Affected individuals are compound heterozygotes carrying the missense allele FIG4-I41T in combination with a null allele. Analysis using the yeast two-hybrid system demonstrated that the I41T mutation impairs interaction of FIG4 with the scaffold protein VAC14. The critical role of this...

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Identifiers

PMID: 21655088
DOI: 10.1371/journal.pgen.1002104
PMCID: PMC3107197

Genes

FIG4
VAC14

Variants

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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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Pathogenic mechanism of the FIG4 mutation responsible for Charcot-Marie-Tooth disease CMT4J.PMID 21655088Read ↗

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

A New Mutation in FIG4 Causes a Severe Form of CMT4J Involving TRPV4 in the Pathogenic Cascade.Semantic proximity Read ↗

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

Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P₂ phosphatase FIG4.Semantic proximity Read ↗

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

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

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

FIG4 mutations leading to parkinsonism and a phenotypical continuum between CMT4J and Yunis Varón syndrome.Semantic proximity Read ↗

Fig4 confers tolerance to rapamycin in a Ste20-dependent manner independent of the Vac14 scaffoldSemantic proximity Read ↗

Clinical features of homozygous FIG4-p.Ile41Thr Charcot-Marie-Tooth 4J patients.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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