An ENU-induced mutation in mouse glycyl-tRNA synthetase (GARS) causes peripheral sensory and motor phenotypes creating a model of Charcot-Marie-Tooth type 2D peripheral neuropathy
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Charcot-Marie-Tooth-linked mutant GARS is toxic to peripheral neurons independent of wild-type GARS levelsGARS axonopathy: not every neuron's cup of tRNACMT2D neuropathy is linked to the neomorphic binding activity of glycyl-tRNA synthetase.Analysis of Expression Pattern and Genetic Deletion of Netrin5 in the Developing MouseDispersed disease-causing neomorphic mutations on a single protein promote the same localized conformational opening.The Mitochondrial Aminoacyl tRNA Synthetases: Genes and Syndromes.New insights into behaviour using mouse ENU mutagenesisDimerization is required for GARS-mediated neurotoxicity in dominant CMT diseaseTrk receptor signaling and sensory neuron fate are perturbed in human neuropathy caused by Gars mutations.Severity of Demyelinating and Axonal Neuropathy Mouse Models Is Modified by Genes Affecting Structure and Function of Peripheral NodesCMT-associated mutations in glycyl- and tyrosyl-tRNA synthetases exhibit similar pattern of toxicity and share common genetic modifiers in Drosophila.Lack of neuropathy-related phenotypes in hint1 knockout mice.Neuromuscular junction maturation defects precede impaired lower motor neuron connectivity in Charcot-Marie-Tooth type 2D miceImpaired function is a common feature of neuropathy-associated glycyl-tRNA synthetase mutationsSynaptic Deficits at Neuromuscular Junctions in Two Mouse Models of Charcot-Marie-Tooth Type 2d.An assessment of mechanisms underlying peripheral axonal degeneration caused by aminoacyl-tRNA synthetase mutations.Evolutionary and structural annotation of disease-associated mutations in human aminoacyl-tRNA synthetases.A valid mouse model of AGRIN-associated congenital myasthenic syndrome.A novel AARS mutation in a family with dominant myeloneuropathy.Dominant, toxic gain-of-function mutations in gars lead to non-cell autonomous neuropathology.Large Conformational Changes of Insertion 3 in Human Glycyl-tRNA Synthetase (hGlyRS) during Catalysis.Aminoacyl-tRNA synthetases in medicine and diseaseHuman mitochondrial disease-like symptoms caused by a reduced tRNA aminoacylation activity in flies.Metabolite profile of a mouse model of Charcot-Marie-Tooth type 2D neuropathy: implications for disease mechanisms and interventions.Autophagy, a guardian against neurodegeneration.Genetic modifiers of neurological diseaseCommon pathways of autoimmune inflammatory myopathies and genetic neuromuscular disorders.Peripheral neuropathy via mutant tRNA synthetases: Inhibition of protein translation provides a possible explanation.Predicting the pathogenicity of aminoacyl-tRNA synthetase mutations.Muscle spindle alterations precede onset of sensorimotor deficits in Charcot-Marie-Tooth type 2E.Drosophila as a platform to predict the pathogenicity of novel aminoacyl-tRNA synthetase mutations in CMT.Neuropilin 1 sequestration by neuropathogenic mutant glycyl-tRNA synthetase is permissive to vascular homeostasisA WHEP Domain Regulates the Dynamic Structure and Activity of Caenorhabditis elegans Glycyl-tRNA SynthetaseThe role of tRNA synthetases in neurological and neuromuscular disorders.Characterization of New Transgenic Mouse Models for Two Charcot-Marie-Tooth-Causing HspB1 Mutations using the Rosa26 Locus.HDAC6 is a therapeutic target in mutant GARS-induced Charcot-Marie-Tooth disease.Plexin-Semaphorin Signaling Modifies Neuromuscular Defects in a Drosophila Model of Peripheral Neuropathy.Mutations in glycyl-tRNA-synthetase impair mitochondrial metabolism in neurons.Aberrant GlyRS-HDAC6 interaction linked to axonal transport deficits in Charcot-Marie-Tooth neuropathy.Effect of genetic background on onset and disease progression in the SOD1-G93A model of amyotrophic lateral sclerosis
P2860
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P2860
An ENU-induced mutation in mouse glycyl-tRNA synthetase (GARS) causes peripheral sensory and motor phenotypes creating a model of Charcot-Marie-Tooth type 2D peripheral neuropathy
description
2009 nî lūn-bûn
@nan
2009 թուականին հրատարակուած գիտական յօդուած
@hyw
2009 թվականին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
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
An ENU-induced mutation in mou ...... type 2D peripheral neuropathy
@ast
An ENU-induced mutation in mou ...... type 2D peripheral neuropathy
@en
An ENU-induced mutation in mou ...... type 2D peripheral neuropathy
@nl
type
label
An ENU-induced mutation in mou ...... type 2D peripheral neuropathy
@ast
An ENU-induced mutation in mou ...... type 2D peripheral neuropathy
@en
An ENU-induced mutation in mou ...... type 2D peripheral neuropathy
@nl
prefLabel
An ENU-induced mutation in mou ...... type 2D peripheral neuropathy
@ast
An ENU-induced mutation in mou ...... type 2D peripheral neuropathy
@en
An ENU-induced mutation in mou ...... type 2D peripheral neuropathy
@nl
P2093
P2860
P3181
P356
P1476
An ENU-induced mutation in mou ...... type 2D peripheral neuropathy
@en
P2093
Carole D Nickols
Francesca Achilli
Gareth T Banks
Hazel P Williams
Jan van Minnen
Joanne E Martin
Kevin L Seburn
Kevin Talbot
Linda Greensmith
Martin Koltzenburg
P2860
P304
P3181
P356
10.1242/DMM.002527
P407
P577
2009-01-01T00:00:00Z