A recurrent loss-of-function alanyl-tRNA synthetase (AARS) mutation in patients with Charcot-Marie-Tooth disease type 2N (CMT2N) - Wikidata - wikimedia - TriplyDB

A recurrent loss-of-function alanyl-tRNA synthetase (AARS) mutation in patients with Charcot-Marie-Tooth disease type 2N (CMT2N)

A recurrent loss-of-function alanyl-tRNA synthetase (AARS) mutation in patients with Charcot-Marie-Tooth disease type 2N (CMT2N)

http://www.wikidata.org/entity/Q35618883

about

A nonsense mutation in DHTKD1 causes Charcot-Marie-Tooth disease type 2 in a large Chinese pedigree Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies.Mutations of the aminoacyl-tRNA-synthetases SARS and WARS2 are implicated in the etiology of autosomal recessive intellectual disability The Mitochondrial Aminoacyl tRNA Synthetases: Genes and Syndromes.Mutations in KARS, encoding lysyl-tRNA synthetase, cause autosomal-recessive nonsyndromic hearing impairment DFNB89 Transfer RNA and human disease Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity.Impaired function is a common feature of neuropathy-associated glycyl-tRNA synthetase mutations Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing.Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defect Evolutionary and structural annotation of disease-associated mutations in human aminoacyl-tRNA synthetases.A novel AARS mutation in a family with dominant myeloneuropathy.Impaired protein translation in Drosophila models for Charcot-Marie-Tooth neuropathy caused by mutant tRNA synthetases Genotype/phenotype correlations in AARS-related neuropathy in a cohort of patients from the United Kingdom and Ireland.Kinetic partitioning between synthetic and editing pathways in class I aminoacyl-tRNA synthetases occurs at both pre-transfer and post-transfer hydrolytic steps A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivo Aminoacyl-tRNA synthetases in medicine and disease To charge or not to charge: mechanistic insights into neuropathy-associated tRNA synthetase mutations A novel HSD17B10 mutation impairing the activities of the mitochondrial RNase P complex causes X-linked intractable epilepsy and neurodevelopmental regression Emerging Mechanisms of Aminoacyl-tRNA Synthetase Mutations in Recessive and Dominant Human Disease.Human aminoacyl-tRNA synthetases in diseases of the nervous system.Deficient activity of alanyl-tRNA synthetase underlies an autosomal recessive syndrome of progressive microcephaly, hypomyelination, and epileptic encephalopathy.Peripheral neuropathy via mutant tRNA synthetases: Inhibition of protein translation provides a possible explanation.Thymidine kinase 2 and alanyl-tRNA synthetase 2 deficiencies cause lethal mitochondrial cardiomyopathy: case reports and review of the literature.Predicting the pathogenicity of aminoacyl-tRNA synthetase mutations.Regulation of mRNA Translation in Neurons-A Matter of Life and Death.Clinico-Electrophysiological and Genetic Overlaps and Magnetic Resonance Imaging Findings in Charcot-Marie- Tooth Disease: A Pilot Study from Western India.The role of tRNA synthetases in neurological and neuromuscular disorders.Substrate interaction defects in histidyl-tRNA synthetase linked to dominant axonal peripheral neuropathy.A recurrent WARS mutation is a novel cause of autosomal dominant distal hereditary motor neuropathy.A novel multisystem disease associated with recessive mutations in the tyrosyl-tRNA synthetase (YARS) gene.X-linked Charcot-Marie-Tooth disease type 6 (CMTX6) patients with a p.R158H mutation in the pyruvate dehydrogenase kinase isoenzyme 3 gene.

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A recurrent loss-of-function alanyl-tRNA synthetase (AARS) mutation in patients with Charcot-Marie-Tooth disease type 2N (CMT2N)

http://www.wikidata.org/entity/Q35618883

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Garth Nicholson

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Heather M McLaughlin

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James R Lupski

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Marina Kennerson

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Reiko Sakaguchi

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Thomas E Wilson

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William Giblin

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P2860

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

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

Amount and distribution of 5-methylcytosine in human DNA from different types of tissues of cells

Ulp1-SUMO crystal structure and genetic analysis reveal conserved interactions and a regulatory element essential for cell growth in yeast

EMBOSS: the European Molecular Biology Open Software Suite

Clustal W and Clustal X version 2.0

Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease

Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy

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244-253

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10.1002/HUMU.21635

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1

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33

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Jeffery M. Vance

Stephan Züchner

NISC Comparative Sequencing Program

Leslie G Biesecker

Anthony Antonellis

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2011-11-09T00:00:00Z

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51727356

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22009580

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3240693

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