Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS. - Wikidata - wikimedia - TriplyDB

Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS.

Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS.

http://www.wikidata.org/entity/Q34913669

about

Dysregulation of the autophagy-endolysosomal system in amyotrophic lateral sclerosis and related motor neuron diseases Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia In vivo, Pikfyve generates PI(3,5)P2, which serves as both a signaling lipid and the major precursor for PI5P.Loss of the E3 ubiquitin ligase LRSAM1 sensitizes peripheral axons to degeneration in a mouse model of Charcot-Marie-Tooth disease Toward precision medicine in amyotrophic lateral sclerosis Genotype-phenotype correlations of amyotrophic lateral sclerosis Clinical and genetic basis of familial amyotrophic lateral sclerosis Autophagy and Neurodegeneration: Insights from a Cultured Cell Model of ALS Phosphatidylinositol 3,5-bisphosphate: low abundance, high significance Converging mechanisms in ALS and FTD: disrupted RNA and protein homeostasis State of play in amyotrophic lateral sclerosis genetics Phosphoinositides: tiny lipids with giant impact on cell regulation Phosphoinositides in the mammalian endo-lysosomal network The Amyloid Precursor Protein Controls PIKfyve Function Inhibition of PIKfyve by YM-201636 dysregulates autophagy and leads to apoptosis-independent neuronal cell death Crystal structure of the yeast Sac1: implications for its phosphoinositide phosphatase function Inhibitory synaptic regulation of motoneurons: a new target of disease mechanisms in amyotrophic lateral sclerosis.A perspective on stem cell modeling of amyotrophic lateral sclerosis Spatiotemporal control of phosphatidylinositol 4-phosphate by Sac2 regulates endocytic recycling Pathogenic mechanism of the FIG4 mutation responsible for Charcot-Marie-Tooth disease CMT4J PI(3,5)P2 controls membrane trafficking by direct activation of mucolipin Ca2+ release channels in the endolysosome PIK3C2B inhibition improves function and prolongs survival in myotubular myopathy animal models Screening assay for small-molecule inhibitors of synaptojanin 1, a synaptic phosphoinositide phosphatase.Protein Homeostasis in Amyotrophic Lateral Sclerosis: Therapeutic Opportunities?The Sac domain-containing phosphoinositide phosphatases: structure, function, and disease SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis Two-Pore Channels and Parkinson's Disease: Where's the Link?Spinal motor neuron protein supersaturation patterns are associated with inclusion body formation in ALS.Mouse models of PI(3,5)P2 deficiency with impaired lysosome function.Endosomal accumulation of APP in wobbler motor neurons reflects impaired vesicle trafficking: implications for human motor neuron disease.Familial amyotrophic lateral sclerosis is associated with a mutation in D-amino acid oxidase Mitochondrial pathobiology in ALS.Sac1-Vps74 structure reveals a mechanism to terminate phosphoinositide signaling in the Golgi apparatus.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.Genetic heterogeneity of amyotrophic lateral sclerosis: implications for clinical practice and research.Mitochondrial and Cell Death Mechanisms in Neurodegenerative Diseases.Activity-dependent PI(3,5)P2 synthesis controls AMPA receptor trafficking during synaptic depression.Loss of Fig4 in both Schwann cells and motor neurons contributes to CMT4J neuropathy.Transgenic animal models of neurodegeneration based on human genetic studies.

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P2860

Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS.

http://www.wikidata.org/entity/Q34913669

description

2009 nî lūn-bûn

@nan

2009 թուականի Յունուարին հրատարակուած գիտական յօդուած

@hyw

2009 թվականի հունվարին հրատարակված գիտական հոդված

@hy

2009年の論文

@ja

2009年論文

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2009年論文

@zh-hant

2009年論文

@zh-hk

2009年論文

@zh-mo

2009年論文

@zh-tw

2009年论文

@wuu

name

Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS.

@ast

Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS.

@en

Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS.

@nl

type

label

Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS.

@ast

Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS.

@en

Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS.

@nl

prefLabel

Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS.

@ast

Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS.

@en

Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS.

@nl

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J.AJHG.2008.12.010

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American Journal of Human Genetics

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Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS.

@en

P2093

Adrienne E Grant

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

Clement Y Chow

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

Denise Figlewicz

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

Diane M McKenna-Yasek

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

John E Landers

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

Julie M Jones

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

Lesley Everett

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

Lois S Weisman

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

Miriam H Meisler

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

Peter C Sapp

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

P2860

Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2

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

VAC14 nucleates a protein complex essential for the acute interconversion of PI3P and PI(3,5)P(2) in yeast and mouse.

Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4

Mutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4H

Loss of Vac14, a regulator of the signaling lipid phosphatidylinositol 3,5-bisphosphate, results in neurodegeneration in mice.

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

Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J

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

Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2.

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10.1016/J.AJHG.2008.12.010

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1

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84

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2009-01-01T00:00:00Z

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23716005

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19118816

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amyotrophic lateral sclerosis

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2668033

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