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GARS axonopathy: not every neuron's cup of tRNA

GARS axonopathy: not every neuron's cup of tRNA

http://www.wikidata.org/entity/Q24647184

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Charcot-Marie-Tooth-linked mutant GARS is toxic to peripheral neurons independent of wild-type GARS levels A brief review of recent Charcot-Marie-Tooth research and priorities Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies.CMT2D neuropathy is linked to the neomorphic binding activity of glycyl-tRNA synthetase.Cocrystal Structures of Glycyl-tRNA Synthetase in Complex with tRNA Suggest Multiple Conformational States in Glycylation Mutations in RARS cause hypomyelination Elaborate uORF/IRES features control expression and localization of human glycyl-tRNA synthetase Glycyl-tRNA synthetase specifically binds to the poliovirus IRES to activate translation initiation Dispersed 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.Anatomical distributional defects in mutant genes associated with dominant intermediate Charcot-Marie-Tooth disease type C in an adenovirus-mediated mouse model.Trk receptor signaling and sensory neuron fate are perturbed in human neuropathy caused by Gars mutations.RNA metabolism in neurodegenerative disease.Compound heterozygous mutations in glycyl-tRNA synthetase (GARS) cause mitochondrial respiratory chain dysfunction.CMT-associated mutations in glycyl- and tyrosyl-tRNA synthetases exhibit similar pattern of toxicity and share common genetic modifiers in Drosophila.Neuropathic pain model of peripheral neuropathies mediated by mutations of glycyl-tRNA synthetase Neuromuscular junction maturation defects precede impaired lower motor neuron connectivity in Charcot-Marie-Tooth type 2D mice Impaired function is a common feature of neuropathy-associated glycyl-tRNA synthetase mutations 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.Dominant, toxic gain-of-function mutations in gars lead to non-cell autonomous neuropathology.Secreted human glycyl-tRNA synthetase implicated in defense against ERK-activated tumorigenesis.Genotype/phenotype correlations in AARS-related neuropathy in a cohort of patients from the United Kingdom and Ireland.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 disease Metabolite profile of a mouse model of Charcot-Marie-Tooth type 2D neuropathy: implications for disease mechanisms and interventions.Common pathways of autoimmune inflammatory myopathies and genetic neuromuscular disorders.Alternative stable conformation capable of protein misinteraction links tRNA synthetase to peripheral neuropathy.Predicting the pathogenicity of aminoacyl-tRNA synthetase mutations.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 homeostasis A WHEP Domain Regulates the Dynamic Structure and Activity of Caenorhabditis elegans Glycyl-tRNA Synthetase Transcriptomic comparison of Drosophila snRNP biogenesis mutants reveals mutant-specific changes in pre-mRNA processing: implications for spinal muscular atrophy.A novel adenoviral vector-mediated mouse model of Charcot-Marie-Tooth type 2D (CMT2D).Substrate interaction defects in histidyl-tRNA synthetase linked to dominant axonal peripheral neuropathy.Plexin-Semaphorin Signaling Modifies Neuromuscular Defects in a Drosophila Model of Peripheral Neuropathy.Aberrant GlyRS-HDAC6 interaction linked to axonal transport deficits in Charcot-Marie-Tooth neuropathy.UBA1/GARS-dependent pathways drive sensory-motor connectivity defects in spinal muscular atrophy

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GARS axonopathy: not every neuron's cup of tRNA

http://www.wikidata.org/entity/Q24647184

description

2010 nî lūn-bûn

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2010 թուականի Փետրուարին հրատարակուած գիտական յօդուած

@hyw

2010 թվականի փետրվարին հրատարակված գիտական հոդված

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2010年の論文

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2010年論文

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2010年論文

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2010年論文

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2010年論文

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2010年論文

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2010年论文

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name

GARS axonopathy: not every neuron's cup of tRNA

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GARS axonopathy: not every neuron's cup of tRNA

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GARS axonopathy: not every neuron's cup of tRNA

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type

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GARS axonopathy: not every neuron's cup of tRNA

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GARS axonopathy: not every neuron's cup of tRNA

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GARS axonopathy: not every neuron's cup of tRNA

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GARS axonopathy: not every neuron's cup of tRNA

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GARS axonopathy: not every neuron's cup of tRNA

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GARS axonopathy: not every neuron's cup of tRNA

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J.TINS.2009.11.001

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Trends in Neurosciences

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GARS axonopathy: not every neuron's cup of tRNA

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Kenneth H Fischbeck

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William W Motley

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P2860

Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation

Functional analyses of glycyl-tRNA synthetase mutations suggest a key role for tRNA-charging enzymes in peripheral axons

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

Rhes, a striatal specific protein, mediates mutant-huntingtin cytotoxicity

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

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

Nucleolar localization of human methionyl-tRNA synthetase and its role in ribosomal RNA synthesis

Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21

The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease

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59-66

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scholarly article

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10.1016/J.TINS.2009.11.001

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2

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20152552

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2822721

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