polymicrogyria/phosphatase

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Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria.

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OBJECTIVE The aim of this study was to identify the causal gene in a consanguineous Moroccan family with temporo-occipital polymicrogyria, psychiatric manifestations, and epilepsy, previously mapped to the 6q16-q22 region. METHODS We used exome sequencing and analyzed candidate variants in the

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

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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.

Polymicrogyria is associated with pathogenic variants in PTEN

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Objective: Congenital structural brain malformations have been described in patients with pathogenic PTEN variants, but the frequency of cortical malformations in PTEN variants and their impact on clinical phenotype are not well

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

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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,

Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases.

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Proteins anchored to the cell surface via glycosylphosphatidylinositol (GPI) play various key roles in the human body, particularly in development and neurogenesis. As such, many developmental disorders are caused by mutations in genes involved in the GPI biosynthesis and remodeling pathway. We

Biallelic Mutations of VAC14 in Pediatric-Onset Neurological Disease.

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In the PI(3,5)P2 biosynthetic complex, the lipid kinase PIKFYVE and the phosphatase FIG4 are bound to the dimeric scaffold protein VAC14, which is composed of multiple heat-repeat domains. Mutations of FIG4 result in the inherited disorders Charcot-Marie-Tooth disease type 4J, Yunis-Varón syndrome,

Loss of Fig4 in both Schwann cells and motor neurons contributes to CMT4J neuropathy.

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Mutations of FIG4 are responsible for Yunis-Varón syndrome, familial epilepsy with polymicrogyria, and Charcot-Marie-Tooth type 4J neuropathy (CMT4J). Although loss of the FIG4 phospholipid phosphatase consistently causes decreased PtdIns(3,5)P₂ levels, cell-specific sensitivity to partial loss of

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