Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations. - Wikidata - wikimedia - TriplyDB

Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations.

Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations.

http://www.wikidata.org/entity/Q34433595

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Crystal structure of human wildtype and S581L-mutant glycyl-tRNA synthetase, an enzyme underlying distal spinal muscular atrophy Long-range structural effects of a Charcot-Marie-Tooth disease-causing mutation in human glycyl-tRNA synthetase Biochemical and genetic evidence for a role of IGHMBP2 in the translational machinery GARS axonopathy: not every neuron's cup of tRNA 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 Crystallization and preliminary X-ray analysis of a native human tRNA synthetase whose allelic variants are associated with Charcot-Marie-Tooth disease Mutant glycyl-tRNA synthetase (Gars) ameliorates SOD1(G93A) motor neuron degeneration phenotype but has little affect on Loa dynein heavy chain mutant mice Differentiating lower motor neuron syndromes Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies Dimerization is required for GARS-mediated neurotoxicity in dominant CMT disease Trk 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 Nodes Compound 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 mice Synaptic 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 syndrome Dominant, 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 vivo Molecular 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 neuron To charge or not to charge: mechanistic insights into neuropathy-associated tRNA synthetase mutations Lessons 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 procytokine Spinal 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.

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Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations.

http://www.wikidata.org/entity/Q34433595

description

2005 nî lūn-bûn

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2005 թուականի Յուլիսին հրատարակուած գիտական յօդուած

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2005 թվականի հուլիսին հրատարակված գիտական հոդված

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2005年の論文

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2005年論文

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2005年論文

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2005年論文

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2005年论文

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name

Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations.

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Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations.

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Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations.

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type

label

Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations.

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Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations.

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Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations.

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Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations.

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Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations.

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Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations.

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Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations.

@en

P2093

Benoît Funalot

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Eleni Zamba-Papanicolaou

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Garth A Nicholson

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Imke Puls

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John L Beggs

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Kenneth H Fischbeck

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Kumaraswamy Sivakumar

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Kyproula Christodoulou

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Lev G Goldfarb

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Marinos C Dalakas

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P2860

Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome

Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V.

Crystal structure of the cytoskeleton-associated protein glycine-rich (CAP-Gly) domain

Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy

A missense mutation in Tbce causes progressive motor neuronopathy in mice

Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A

Dissociated small hand muscle involvement in amyotrophic lateral sclerosis detected by motor unit number estimates.

Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. I. Neurologic, genetic, and electrophysiologic findings in hereditary polyneuropathies.

Molecular genetics of distal hereditary motor neuropathies.

Autosomal dominant Charcot-Marie-Tooth axonal neuropathy mapped on chromosome 7p (CMT2D).

P304

2304-2314

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scholarly article

P356

10.1093/BRAIN/AWH590

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P407

P433

Pt 10

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P478

128

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Anthony Antonellis

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2005-07-13T00:00:00Z

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7729355

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16014653

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