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Article

Protective role of the lipid phosphatase Fig4 in the adult nervous system.

Human molecular genetics - 15 Jul 2018

Mironova Yevgeniya A, Lin Jing-Ping, Kalinski Ashley L, Huffman Lucas D, Lenk Guy M, Havton Leif A, Meisler Miriam H, Giger Roman J

Abstract excerpt

The signaling lipid phosphatidylinositol 3,5-bisphosphate, PI(3,5)P2, functions in vesicular trafficking through the endo-lysosomal compartment. Cellular levels of PI(3,5)P2 are regulated by an enzyme complex comprised of the kinase PIKFYVE, the phosphatase FIG4, and the scaffold protein VAC14. Mutations of human FIG4 cause inherited disorders including Charcot-Marie-Tooth disease type 4J, polymicrogyria with...

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Source

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Identifiers

PMID: 29688489
DOI: 10.1093/hmg/ddy145
PMCID: PMC6030899

Genes

FIG4
PIKFYVE
VAC14

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

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Protective role of the lipid phosphatase Fig4 in the adult nervous system.PMID 29688489Read ↗

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

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

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

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

Genetic interaction between MTMR2 and FIG4 phospholipid phosphatases involved in Charcot-Marie-Tooth neuropathies.Semantic proximity Read ↗

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

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

The Lysosomal Storage Disorder Due to fig4a Mutation Causes Robust Liver Vacuolation in Zebrafish.Semantic proximity Read ↗

Distribution and localization of phosphatidylinositol 5-phosphate, 4-kinase alpha and beta in the brainSemantic proximity Read ↗

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

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

The CMT4B disease-causing phosphatases Mtmr2 and Mtmr13 localize to the Schwann cell cytoplasm and endomembrane compartments, where they depend upon each other to achieve wild-type levels of protein expression.Semantic proximity Read ↗

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