Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J
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Mutation in archain 1, a subunit of COPI coatomer complex, causes diluted coat color and Purkinje cell degenerationDysregulation of the autophagy-endolysosomal system in amyotrophic lateral sclerosis and related motor neuron diseasesVAC14 nucleates a protein complex essential for the acute interconversion of PI3P and PI(3,5)P(2) in yeast and mouse.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 disorderLoss of the E3 ubiquitin ligase LRSAM1 sensitizes peripheral axons to degeneration in a mouse model of Charcot-Marie-Tooth diseaseAssembly of a Fab1 phosphoinositide kinase signaling complex requires the Fig4 phosphoinositide phosphatasePIKfyve-ArPIKfyve-Sac3 core complex: contact sites and their consequence for Sac3 phosphatase activity and endocytic membrane homeostasisPIKfyve regulates CaV1.2 degradation and prevents excitotoxic cell deathPIKfyve: Partners, significance, debates and paradoxesArPIKfyve homomeric and heteromeric interactions scaffold PIKfyve and Sac3 in a complex to promote PIKfyve activity and functionalityLoss of Vac14, a regulator of the signaling lipid phosphatidylinositol 3,5-bisphosphate, results in neurodegeneration in mice.Genotype-phenotype correlations of amyotrophic lateral sclerosisPhosphatidylinositol 3,5-bisphosphate: low abundance, high significanceCharcot-Marie-Tooth disease and intracellular trafficConverging mechanisms in ALS and FTD: disrupted RNA and protein homeostasisPhosphoinositides: tiny lipids with giant impact on cell regulationPhosphoinositides in the mammalian endo-lysosomal networkThe Amyloid Precursor Protein Controls PIKfyve FunctionPI(3,5)P2 controls endosomal branched actin dynamics by regulating cortactin-actin interactions.Inhibition of PIKfyve by YM-201636 dysregulates autophagy and leads to apoptosis-independent neuronal cell deathMutations in a P-type ATPase gene cause axonal degenerationSeptin6 and Septin7 GTP binding proteins regulate AP-3- and ESCRT-dependent multivesicular body biogenesisCrystal structure of the yeast Sac1: implications for its phosphoinositide phosphatase functionPhosphoinositide [PI(3,5)P2] lipid-dependent regulation of the general transcriptional regulator Tup1A lipid switch unlocks Parkinson's disease-associated ATP13A2Spatiotemporal control of phosphatidylinositol 4-phosphate by Sac2 regulates endocytic recyclingTPC proteins are phosphoinositide- activated sodium-selective ion channels in endosomes and lysosomesGenetic interaction between MTMR2 and FIG4 phospholipid phosphatases involved in Charcot-Marie-Tooth neuropathiesPathogenic mechanism of the FIG4 mutation responsible for Charcot-Marie-Tooth disease CMT4JThe ML1Nx2 Phosphatidylinositol 3,5-Bisphosphate Probe Shows Poor Selectivity in CellsPIKfyve, a class III PI kinase, is the target of the small molecular IL-12/IL-23 inhibitor apilimod and a player in Toll-like receptor signalingPI(3,5)P2 controls membrane trafficking by direct activation of mucolipin Ca2+ release channels in the endolysosomeMutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive ImpairmentA mutation in synaptojanin 2 causes progressive hearing loss in the ENU-mutagenised mouse strain Mozart.Mutation of FIG4 causes a rapidly progressive, asymmetric neuronal degeneration.Neuronal expression of Fig4 is both necessary and sufficient to prevent spongiform neurodegeneration.Genetically encoded fluorescent probe to visualize intracellular phosphatidylinositol 3,5-bisphosphate localization and dynamics.Jab1 regulates Schwann cell proliferation and axonal sorting through p27.Rescue of neurodegeneration in the Fig4 null mouse by a catalytically inactive FIG4 transgene.
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Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J
description
2007 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
article publié dans la revue scientifique Nature
@fr
artículu científicu espublizáu en 2007
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scientific journal article
@en
vedecký článok (publikovaný 2007/07/05)
@sk
vědecký článek publikovaný v roce 2007
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wetenschappelijk artikel (gepubliceerd op 2007/07/05)
@nl
наукова стаття, опублікована в липні 2007
@uk
مقالة علمية (نشرت في 5-7-2007)
@ar
name
Mutation of FIG4 causes neurod ...... mouse and patients with CMT4J
@ast
Mutation of FIG4 causes neurod ...... mouse and patients with CMT4J
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Mutation of FIG4 causes neurod ...... mouse and patients with CMT4J
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type
label
Mutation of FIG4 causes neurod ...... mouse and patients with CMT4J
@ast
Mutation of FIG4 causes neurod ...... mouse and patients with CMT4J
@en
Mutation of FIG4 causes neurod ...... mouse and patients with CMT4J
@nl
prefLabel
Mutation of FIG4 causes neurod ...... mouse and patients with CMT4J
@ast
Mutation of FIG4 causes neurod ...... mouse and patients with CMT4J
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Mutation of FIG4 causes neurod ...... mouse and patients with CMT4J
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Mutation of FIG4 causes neurod ...... mouse and patients with CMT4J
@en
P2093
Clement Y. Chow
James J. Dowling
Kensuke Shiga
Kinga Szigeti
Lois S. Weisman
Michael E. Shy
Miriam H. Meisler
Natsuko Jin
Xuebao Zhang
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P2888
P3181
P356
10.1038/NATURE05876
P407
P577
2007-07-05T00:00:00Z
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P6179
1033635285