Mutation of FIG4 causes a rapidly progressive, asymmetric neuronal degeneration. - Wikidata - wikimedia - TriplyDB

Mutation of FIG4 causes a rapidly progressive, asymmetric neuronal degeneration.

Mutation of FIG4 causes a rapidly progressive, asymmetric neuronal degeneration.

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VAC14 nucleates a protein complex essential for the acute interconversion of PI3P and PI(3,5)P(2) in yeast and mouse.Dietary selenium protects against selected signs of aging and methylmercury exposure In vivo, Pikfyve generates PI(3,5)P2, which serves as both a signaling lipid and the major precursor for PI5P.ArPIKfyve regulates Sac3 protein abundance and turnover: disruption of the mechanism by Sac3I41T mutation causing Charcot-Marie-Tooth 4J disorder Phosphatidylinositol 3,5-bisphosphate: low abundance, high significance Charcot-Marie-Tooth disease and intracellular traffic Phosphoinositides in the mammalian endo-lysosomal network Mutations in a P-type ATPase gene cause axonal degeneration Genetic interaction between MTMR2 and FIG4 phospholipid phosphatases involved in Charcot-Marie-Tooth neuropathies Pathogenic mechanism of the FIG4 mutation responsible for Charcot-Marie-Tooth disease CMT4J Neuronal expression of Fig4 is both necessary and sufficient to prevent spongiform neurodegeneration.Shortened internodal length of dermal myelinated nerve fibres in Charcot-Marie-Tooth disease type 1A.The Sac domain-containing phosphoinositide phosphatases: structure, function, and disease Mouse models of PI(3,5)P2 deficiency with impaired lysosome function.Whole exome sequencing identifies three recessive FIG4 mutations in an apparently dominant pedigree with Charcot-Marie-Tooth disease.Distinct pathogenic processes between Fig4-deficient motor and sensory neurons.Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P₂ phosphatase FIG4.Abnormal junctions and permeability of myelin in PMP22-deficient nerves.Loss of Fig4 in both Schwann cells and motor neurons contributes to CMT4J neuropathy.Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS.Defective autophagy in neurons and astrocytes from mice deficient in PI(3,5)P2.Reactivation of Lysosomal Ca2+ Efflux Rescues Abnormal Lysosomal Storage in FIG4-Deficient Cells Metabolism and roles of phosphatidylinositol 3-phosphate in pollen development and pollen tube growth in Arabidopsis.Tuning PAK Activity to Rescue Abnormal Myelin Permeability in HNPP Modulation of synaptic function by VAC14, a protein that regulates the phosphoinositides PI(3,5)P₂ and PI(5)P The Protein Complex of Neurodegeneration-related Phosphoinositide Phosphatase Sac3 and ArPIKfyve Binds the Lewy Body-associated Synphilin-1, Preventing Its Aggregation.Mutations in phosphoinositide metabolizing enzymes and human disease.Evaluating dermal myelinated nerve fibers in skin biopsy.Fig4 deficiency: a newly emerged lysosomal storage disorder?Inherited peripheral neuropathies.Conduction block in PMP22 deficiency.Molecular mechanisms of inherited demyelinating neuropathies.Congenital CNS hypomyelination in the Fig4 null mouse is rescued by neuronal expression of the PI(3,5)P(2) phosphatase Fig4.Biallelic Mutations of VAC14 in Pediatric-Onset Neurological Disease.The signaling lipid PI(3,5)P₂ stabilizes V₁-V(o) sector interactions and activates the V-ATPase Phosphatidylinositol-3,5-bisphosphate: no longer the poor PIP2.Demyelinating prenatal and infantile developmental neuropathies.Inositol lipid phosphatases in membrane trafficking and human disease.Hereditary and inflammatory neuropathies: a review of reported associations, mimics and misdiagnoses.PIKfyve inhibition interferes with phagosome and endosome maturation in macrophages.

P2860

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P2860

Mutation of FIG4 causes a rapidly progressive, asymmetric neuronal degeneration.

http://www.wikidata.org/entity/Q30489465

description

2008 nî lūn-bûn

@nan

2008 թուականի Յունիսին հրատարակուած գիտական յօդուած

@hyw

2008 թվականի հունիսին հրատարակված գիտական հոդված

@hy

2008年の論文

@ja

2008年論文

@yue

2008年論文

@zh-hant

2008年論文

@zh-hk

2008年論文

@zh-mo

2008年論文

@zh-tw

2008年论文

@wuu

name

Mutation of FIG4 causes a rapidly progressive, asymmetric neuronal degeneration.

@ast

Mutation of FIG4 causes a rapidly progressive, asymmetric neuronal degeneration.

@en

type

label

Mutation of FIG4 causes a rapidly progressive, asymmetric neuronal degeneration.

@ast

Mutation of FIG4 causes a rapidly progressive, asymmetric neuronal degeneration.

@en

prefLabel

Mutation of FIG4 causes a rapidly progressive, asymmetric neuronal degeneration.

@ast

Mutation of FIG4 causes a rapidly progressive, asymmetric neuronal degeneration.

@en

P1433

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Mutation of FIG4 causes a rapidly progressive, asymmetric neuronal degeneration.

@en

P2093

Clement Y Chow

http://www.w3.org/2001/XMLSchema#string

Jun Li

http://www.w3.org/2001/XMLSchema#string

Michael E Shy

http://www.w3.org/2001/XMLSchema#string

Miriam H Meisler

http://www.w3.org/2001/XMLSchema#string

Xuebao Zhang

http://www.w3.org/2001/XMLSchema#string

Zarife Sahenk

http://www.w3.org/2001/XMLSchema#string

P2860

The mammalian phosphatidylinositol 3-phosphate 5-kinase (PIKfyve) regulates endosome-to-TGN retrograde transport.

A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis.

The phosphoinositide-3-phosphatase MTMR2 associates with MTMR13, a membrane-associated pseudophosphatase also mutated in type 4B Charcot-Marie-Tooth disease

Core protein machinery for mammalian phosphatidylinositol 3,5-bisphosphate synthesis and turnover that regulates the progression of endosomal transport. Novel Sac phosphatase joins the ArPIKfyve-PIKfyve complex

The Vac14p-Fig4p complex acts independently of Vac7p and couples PI3,5P2 synthesis and turnover

Phosphoinositides in cell regulation and membrane dynamics

Cloning and expression of myelin-associated oligodendrocytic basic protein. A novel basic protein constituting the central nervous system myelin

The role of a novel p97/valosin-containing protein-interacting motif of gp78 in endoplasmic reticulum-associated degradation

Amyotrophic lateral sclerosis. Its natural history

Severely increased risk of amyotrophic lateral sclerosis among Italian professional football players

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1990-2001

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scholarly article

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10.1093/BRAIN/AWN114

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P433

Pt 8

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131

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2008-06-12T00:00:00Z

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5299405

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18556664

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2724900

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