Genetic interaction between MTMR2 and FIG4 phospholipid phosphatases involved in Charcot-Marie-Tooth neuropathies
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In vivo, Pikfyve generates PI(3,5)P2, which serves as both a signaling lipid and the major precursor for PI5P.Phosphatidylinositol 3,5-bisphosphate: low abundance, high significanceCharcot-Marie-Tooth disease and intracellular trafficMutations in a P-type ATPase gene cause axonal degenerationSeptin6 and Septin7 GTP binding proteins regulate AP-3- and ESCRT-dependent multivesicular body biogenesisSOX10 regulates an alternative promoter at the Charcot-Marie-Tooth disease locus MTMR2.PIK3C2B inhibition improves function and prolongs survival in myotubular myopathy animal modelsMouse models of PI(3,5)P2 deficiency with impaired lysosome function.Loss of Fig4 in both Schwann cells and motor neurons contributes to CMT4J neuropathy.Exploring phosphatidylinositol 5-phosphate 4-kinase function.Detection and manipulation of phosphoinositides.Reactivation of Lysosomal Ca2+ Efflux Rescues Abnormal Lysosomal Storage in FIG4-Deficient CellsPtdIns5P: news and views of its appearance, disappearance and deeds.Plentiful PtdIns5P from scanty PtdIns(3,5)P2 or from ample PtdIns? PIKfyve-dependent models: Evidence and speculation (response to: DOI 10.1002/bies.201300012).The Protein Complex of Neurodegeneration-related Phosphoinositide Phosphatase Sac3 and ArPIKfyve Binds the Lewy Body-associated Synphilin-1, Preventing Its Aggregation.Molecular genetics of charcot-marie-tooth disease: from genes to genomes.Fig4 deficiency: a newly emerged lysosomal storage disorder?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.An Emerging Role for PI5P in T Cell Biology.Phosphatidylinositol 3,5-bisphosphate: regulation of cellular events in space and time.Murine Fig4 is dispensable for muscle development but required for muscle function.Niacin-mediated Tace activation ameliorates CMT neuropathies with focal hypermyelination.Autosomal recessive Charcot-Marie-Tooth disease: from genes to phenotypes.Phosphatidylinositol 5-phosphate: a nuclear stress lipid and a tuner of membranes and cytoskeleton dynamics.The role of phosphoinositides in synapse function.Dysregulation of ErbB Receptor Trafficking and Signaling in Demyelinating Charcot-Marie-Tooth Disease.Phosphoinositides, Major Actors in Membrane Trafficking and Lipid Signaling Pathways.PI5P and PI(3,5)P2: Minor, but Essential Phosphoinositides.Sphingomyelin as a myelin biomarker in CSF of acquired demyelinating neuropathiesSchwann cell-specific deletion of the endosomal PI 3-kinase Vps34 leads to delayed radial sorting of axons, arrested myelination, and abnormal ErbB2-ErbB3 tyrosine kinase signaling.Myotubularin related protein-2 and its phospholipid substrate PIP2 control Piezo2-mediated mechanotransduction in peripheral sensory neurons.Myotubularins and associated neuromuscular diseasesA novel SPEG mutation causes non-compaction cardiomyopathy and neuropathy in a floppy infant with centronuclear myopathyAn In Vitro Model of Charcot-Marie-Tooth Disease Type 4B2 Provides Insight Into the Roles of MTMR13 and MTMR2 in Schwann Cell Myelination
P2860
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P2860
Genetic interaction between MTMR2 and FIG4 phospholipid phosphatases involved in Charcot-Marie-Tooth neuropathies
description
2011 nî lūn-bûn
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2011 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
Genetic interaction between MT ...... arcot-Marie-Tooth neuropathies
@ast
Genetic interaction between MT ...... arcot-Marie-Tooth neuropathies
@en
Genetic interaction between MT ...... arcot-Marie-Tooth neuropathies
@nl
type
label
Genetic interaction between MT ...... arcot-Marie-Tooth neuropathies
@ast
Genetic interaction between MT ...... arcot-Marie-Tooth neuropathies
@en
Genetic interaction between MT ...... arcot-Marie-Tooth neuropathies
@nl
prefLabel
Genetic interaction between MT ...... arcot-Marie-Tooth neuropathies
@ast
Genetic interaction between MT ...... arcot-Marie-Tooth neuropathies
@en
Genetic interaction between MT ...... arcot-Marie-Tooth neuropathies
@nl
P2093
P2860
P50
P921
P1433
P1476
Genetic interaction between MT ...... arcot-Marie-Tooth neuropathies
@en
P2093
Bernard Payrastre
Emily Kaufman
Federica Cerri
Giorgia Dina
Hélène Tronchère
Ilaria Vaccari
Lawrence Wrabetz
Lois S Weisman
Miriam H Meisler
P2860
P304
P356
10.1371/JOURNAL.PGEN.1002319
P407
P577
2011-10-20T00:00:00Z