Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations.
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Crystal structure of human wildtype and S581L-mutant glycyl-tRNA synthetase, an enzyme underlying distal spinal muscular atrophyLong-range structural effects of a Charcot-Marie-Tooth disease-causing mutation in human glycyl-tRNA synthetaseBiochemical and genetic evidence for a role of IGHMBP2 in the translational machineryGARS axonopathy: not every neuron's cup of tRNAAn 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 neuropathyCrystallization and preliminary X-ray analysis of a native human tRNA synthetase whose allelic variants are associated with Charcot-Marie-Tooth diseaseMutant glycyl-tRNA synthetase (Gars) ameliorates SOD1(G93A) motor neuron degeneration phenotype but has little affect on Loa dynein heavy chain mutant miceDifferentiating lower motor neuron syndromesDominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathiesDimerization 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 NodesCompound heterozygous mutations in glycyl-tRNA synthetase (GARS) cause mitochondrial respiratory chain dysfunction.Mutational analysis of glycyl-tRNA synthetase (GARS) gene in Hirayama disease.Neuromuscular junction maturation defects precede impaired lower motor neuron connectivity in Charcot-Marie-Tooth type 2D miceSynaptic Deficits at Neuromuscular Junctions in Two Mouse Models of Charcot-Marie-Tooth Type 2d.Unraveling the genetics of distal hereditary motor neuronopathies.A novel AARS mutation in a family with dominant myeloneuropathy.Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndromeDominant, toxic gain-of-function mutations in gars lead to non-cell autonomous neuropathology.Two Novel De Novo GARS Mutations Cause Early-Onset Axonal Charcot-Marie-Tooth Disease.Charcot-Marie-Tooth disease-associated mutant tRNA synthetases linked to altered dimer interface and neurite distribution defect.A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivoMolecular genetics of autosomal-dominant axonal Charcot-Marie-Tooth disease.Pathomechanisms of mutant proteins in Charcot-Marie-Tooth disease.Infantile onset CMT2D/dSMA V in monozygotic twins due to a mutation in the anticodon-binding domain of GARS.Large Conformational Changes of Insertion 3 in Human Glycyl-tRNA Synthetase (hGlyRS) during Catalysis.Inherited peripheral neuropathies.RNA processing defects associated with diseases of the motor neuronTo charge or not to charge: mechanistic insights into neuropathy-associated tRNA synthetase mutationsLessons from London.Metabolite profile of a mouse model of Charcot-Marie-Tooth type 2D neuropathy: implications for disease mechanisms and interventions.Gain-of-function mutational activation of human tRNA synthetase procytokineSpinal Charcot-Marie-Tooth disease: a reappraisal.A review of genetic counseling for Charcot Marie Tooth disease (CMT).Emerging Mechanisms of Aminoacyl-tRNA Synthetase Mutations in Recessive and Dominant Human Disease.Peripheral neuropathy via mutant tRNA synthetases: Inhibition of protein translation provides a possible explanation.Predicting the pathogenicity of aminoacyl-tRNA synthetase mutations.A novel adenoviral vector-mediated mouse model of Charcot-Marie-Tooth type 2D (CMT2D).Compound heterozygosity for loss-of-function GARS variants results in a multisystem developmental syndrome that includes severe growth retardation.
P2860
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P2860
Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations.
description
2005 nî lūn-bûn
@nan
2005 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
name
Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations.
@ast
Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations.
@en
Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations.
@nl
type
label
Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations.
@ast
Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations.
@en
Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations.
@nl
prefLabel
Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations.
@ast
Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations.
@en
Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations.
@nl
P2093
P2860
P356
P1433
P1476
Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations.
@en
P2093
Benoît Funalot
Eleni Zamba-Papanicolaou
Garth A Nicholson
John L Beggs
Kenneth H Fischbeck
Kumaraswamy Sivakumar
Kyproula Christodoulou
Lev G Goldfarb
Marinos C Dalakas
P2860
P304
P356
10.1093/BRAIN/AWH590
P407
P577
2005-07-13T00:00:00Z