Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P₂ phosphatase FIG4.
about
In vivo, Pikfyve generates PI(3,5)P2, which serves as both a signaling lipid and the major precursor for PI5P.Mutations in a P-type ATPase gene cause axonal degenerationGenetic interaction between MTMR2 and FIG4 phospholipid phosphatases involved in Charcot-Marie-Tooth neuropathiesNeuronal expression of Fig4 is both necessary and sufficient to prevent spongiform neurodegeneration.The Sac domain-containing phosphoinositide phosphatases: structure, function, and diseaseMouse 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.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.Reactivation of Lysosomal Ca2+ Efflux Rescues Abnormal Lysosomal Storage in FIG4-Deficient CellsPhosphoinositides and vesicular membrane trafficModulation of synaptic function by VAC14, a protein that regulates the phosphoinositides PI(3,5)P₂ and PI(5)PFig4 deficiency: a newly emerged lysosomal storage disorder?Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatasePI(3,5)P2 biosynthesis regulates oligodendrocyte differentiation by intrinsic and extrinsic mechanisms.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.Murine Fig4 is dispensable for muscle development but required for muscle function.Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria.Demyelinating prenatal and infantile developmental neuropathies.Murine therapeutic models for Charcot-Marie-Tooth (CMT) disease.Autosomal recessive Charcot-Marie-Tooth disease: from genes to phenotypes.FIG4 regulates lysosome membrane homeostasis independent of phosphatase function.Analysis of the human diseasome using phenotype similarity between common, genetic, and infectious diseasesA practical approach to the genetic neuropathies.Dysregulation of ErbB Receptor Trafficking and Signaling in Demyelinating Charcot-Marie-Tooth Disease.Hereditary and inflammatory neuropathies: a review of reported associations, mimics and misdiagnoses.Common and Divergent Mechanisms in Developmental Neuronal Remodeling and Dying Back Neurodegeneration.FIG4 variants in central European patients with amyotrophic lateral sclerosis: a whole-exome and targeted sequencing study.A New Mutation in FIG4 Causes a Severe Form of CMT4J Involving TRPV4 in the Pathogenic Cascade.Charcot Marie Tooth disease type 4J with complex central nervous system features.Protective Role of the Lipid Phosphatase Fig4 in the Adult Nervous System.
P2860
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P2860
Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P₂ phosphatase FIG4.
description
2011 nî lūn-bûn
@nan
2011 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի հուլիսին 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
Distinctive genetic and clinic ...... he PI(3,5)P₂ phosphatase FIG4.
@ast
Distinctive genetic and clinic ...... he PI(3,5)P₂ phosphatase FIG4.
@en
Distinctive genetic and clinic ...... he PI(3,5)P₂ phosphatase FIG4.
@nl
type
label
Distinctive genetic and clinic ...... he PI(3,5)P₂ phosphatase FIG4.
@ast
Distinctive genetic and clinic ...... he PI(3,5)P₂ phosphatase FIG4.
@en
Distinctive genetic and clinic ...... he PI(3,5)P₂ phosphatase FIG4.
@nl
prefLabel
Distinctive genetic and clinic ...... he PI(3,5)P₂ phosphatase FIG4.
@ast
Distinctive genetic and clinic ...... he PI(3,5)P₂ phosphatase FIG4.
@en
Distinctive genetic and clinic ...... he PI(3,5)P₂ phosphatase FIG4.
@nl
P2093
P2860
P356
P1433
P1476
Distinctive genetic and clinic ...... the PI(3,5)P₂ phosphatase FIG4
@en
P2093
Adrienne E Grant
Angela Scheuerle
Carla Brandt
Charles F Towne
Cole J Ferguson
Ericka Simpson
Garth Nicholson
Giovanni Coppola
Leslie G Biesecker
Michelle Yasick
P2860
P304
P356
10.1093/BRAIN/AWR148
P407
P577
2011-07-01T00:00:00Z