Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4
about
An ARHGEF10 deletion is highly associated with a juvenile-onset inherited polyneuropathy in Leonberger and Saint Bernard dogsFGD2, a CDC42-specific exchange factor expressed by antigen-presenting cells, localizes to early endosomes and active membrane rufflesCharcot-Marie-Tooth disease and intracellular trafficRho guanine nucleotide exchange factors: regulators of Rho GTPase activity in development and diseaseTRPV4 channel activity is modulated by direct interaction of the ankyrin domain to PI(4,5)P₂Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4JRhoGTPase Regulators Orchestrate Distinct Stages of Synaptic Development.Jab1 regulates Schwann cell proliferation and axonal sorting through p27.Genetic spectrum of hereditary neuropathies with onset in the first year of lifePRPS1 mutations: four distinct syndromes and potential treatment.Epstein-Barr virus-encoded LMP1 interacts with FGD4 to activate Cdc42 and thereby promote migration of nasopharyngeal carcinoma cells.Nonsense-mediated decay in genetic disease: friend or foe?Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome.Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS.N-WASP is required for membrane wrapping and myelination by Schwann cellsIdentification of a negative regulatory region for the exchange activity and characterization of T332I mutant of Rho guanine nucleotide exchange factor 10 (ARHGEF10).A genome-wide association study identifies novel loci for paclitaxel-induced sensory peripheral neuropathy in CALGB 40101.Myelin is dependent on the Charcot-Marie-Tooth Type 4H disease culprit protein FRABIN/FGD4 in Schwann cellsMolecular genetics of charcot-marie-tooth disease: from genes to genomes.Polarization and myelination in myelinating glia.Loss of the inactive myotubularin-related phosphatase Mtmr13 leads to a Charcot-Marie-Tooth 4B2-like peripheral neuropathy in mice.Processing of nerve biopsies: a practical guide for neuropathologists.Molecular mechanisms of inherited demyelinating neuropathies.Fine mapping of the Bmgr5 quantitative trait locus for allogeneic bone marrow engraftment in miceGenetic deletion of Cadm4 results in myelin abnormalities resembling Charcot-Marie-Tooth neuropathy.The function of RhoGTPases in axon ensheathment and myelination.Frabin and other related Cdc42-specific guanine nucleotide exchange factors couple the actin cytoskeleton with the plasma membraneA novel Frabin (FGD4) nonsense mutation p.R275X associated with phenotypic variability in CMT4H.Subcellular distribution of the Rho-GEF Lfc in primate prefrontal cortex: effect of neuronal activationThe CMT4B disease-causing proteins MTMR2 and MTMR13/SBF2 regulate AKT signallingMyelinosome formation represents an early stage of oligodendrocyte damage in multiple sclerosis and its animal model.PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth disease.DDIT4/REDD1/RTP801 is a novel negative regulator of Schwann cell myelination.Demyelinating prenatal and infantile developmental neuropathies.Autosomal recessive Charcot-Marie-Tooth disease: from genes to phenotypes.Cdc42 regulates Schwann cell radial sorting and myelin sheath folding through NF2/merlin-dependent and independent signalingDGAT2 Mutation in a Family with Autosomal-Dominant Early-Onset Axonal Charcot-Marie-Tooth Disease.Minireview: Role of genetic changes of faciogenital dysplasia protein 1 in human disease.A novel mutation in FGD4/FRABIN causes Charcot Marie Tooth disease type 4H in patients from a consanguineous Tunisian family.The FGD homologue EXC-5 regulates apical trafficking in C. elegans tubules.
P2860
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P2860
Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4
description
2007 nî lūn-bûn
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2007 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
name
Peripheral nerve demyelination ...... e exchange factor, frabin/FGD4
@ast
Peripheral nerve demyelination ...... e exchange factor, frabin/FGD4
@en
Peripheral nerve demyelination ...... e exchange factor, frabin/FGD4
@nl
type
label
Peripheral nerve demyelination ...... e exchange factor, frabin/FGD4
@ast
Peripheral nerve demyelination ...... e exchange factor, frabin/FGD4
@en
Peripheral nerve demyelination ...... e exchange factor, frabin/FGD4
@nl
prefLabel
Peripheral nerve demyelination ...... e exchange factor, frabin/FGD4
@ast
Peripheral nerve demyelination ...... e exchange factor, frabin/FGD4
@en
Peripheral nerve demyelination ...... e exchange factor, frabin/FGD4
@nl
P2093
P2860
P50
P356
P1476
Peripheral nerve demyelination ...... e exchange factor, frabin/FGD4
@en
P2093
Alexander Krüttgen
Andreas Roos
Carsten Bergmann
Francois Castagner
Garth Nicholson
Joachim Weis
Jorge Pereira
Jürgen Seeger
Robert Ouvrier
Uwe-Peter Ketelsen
P2860
P304
P356
10.1086/518770
P407
P50
P577
2007-07-01T00:00:00Z