Severe childhood SMA and axonal CMT due to anticodon binding domain mutations in the GARS gene.
about
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 synthetaseDynamics of axonal mRNA transport and implications for peripheral nerve regenerationGARS 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 neuropathyMutant glycyl-tRNA synthetase (Gars) ameliorates SOD1(G93A) motor neuron degeneration phenotype but has little affect on Loa dynein heavy chain mutant miceHomozygous mutation in the eukaryotic translation initiation factor 2alpha phosphatase gene, PPP1R15B, is associated with severe microcephaly, short stature and intellectual disabilityDispersed disease-causing neomorphic mutations on a single protein promote the same localized conformational opening.Compound heterozygous mutations in glycyl-tRNA synthetase are a proposed cause of systemic mitochondrial disease.Compound heterozygous mutations in glycyl-tRNA synthetase (GARS) cause mitochondrial respiratory chain dysfunction.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.Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndromeTwo 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.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.Aminoacyl-tRNA synthetases in medicine and diseaseRNA processing defects associated with diseases of the motor neuronTo charge or not to charge: mechanistic insights into neuropathy-associated tRNA synthetase mutationsGain-of-function mutational activation of human tRNA synthetase procytokineEmerging 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.Congenital Visual Impairment and Progressive Microcephaly Due to Lysyl-Transfer Ribonucleic Acid (RNA) Synthetase (KARS) Mutations: The Expanding Phenotype of Aminoacyl-Transfer RNA Synthetase Mutations in Human Disease.A novel mutation of the glycyl-tRNA synthetase (GARS) gene associated with Charcot-Marie-Tooth type 2D in a Chinese family.Application of whole exome sequencing in undiagnosed inherited polyneuropathies.Two novel mutations of GARS in Korean families with distal hereditary motor neuropathy type V.Glycyl tRNA Synthetase (GARS) Gene Variant Causes Distal Hereditary Motor Neuropathy V.Aberrant GlyRS-HDAC6 interaction linked to axonal transport deficits in Charcot-Marie-Tooth neuropathy.Novel animal models of GARS-associated neuropathy by overexpression of mutant GARS using an adenoviral vectorUBA1/GARS-dependent pathways drive sensory-motor connectivity defects in spinal muscular atrophy
P2860
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P2860
Severe childhood SMA and axonal CMT due to anticodon binding domain mutations in the GARS gene.
description
2006 nî lūn-bûn
@nan
2006 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
name
Severe childhood SMA and axona ...... in mutations in the GARS gene.
@ast
Severe childhood SMA and axona ...... in mutations in the GARS gene.
@en
Severe childhood SMA and axona ...... in mutations in the GARS gene.
@nl
type
label
Severe childhood SMA and axona ...... in mutations in the GARS gene.
@ast
Severe childhood SMA and axona ...... in mutations in the GARS gene.
@en
Severe childhood SMA and axona ...... in mutations in the GARS gene.
@nl
prefLabel
Severe childhood SMA and axona ...... in mutations in the GARS gene.
@ast
Severe childhood SMA and axona ...... in mutations in the GARS gene.
@en
Severe childhood SMA and axona ...... in mutations in the GARS gene.
@nl
P2093
P1433
P1476
Severe childhood SMA and axona ...... in mutations in the GARS gene.
@en
P2093
P304
P356
10.1212/01.WNL.0000242619.52335.BC
P407
P50
P577
2006-11-01T00:00:00Z