A recurrent loss-of-function alanyl-tRNA synthetase (AARS) mutation in patients with Charcot-Marie-Tooth disease type 2N (CMT2N)
about
A nonsense mutation in DHTKD1 causes Charcot-Marie-Tooth disease type 2 in a large Chinese pedigreeMutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndromeLoss 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 disabilityThe Mitochondrial Aminoacyl tRNA Synthetases: Genes and Syndromes.Mutations in KARS, encoding lysyl-tRNA synthetase, cause autosomal-recessive nonsyndromic hearing impairment DFNB89Transfer RNA and human diseaseMutations 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 mutationsImproved 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 defectEvolutionary 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 synthetasesGenotype/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 stepsA loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivoAminoacyl-tRNA synthetases in medicine and diseaseTo charge or not to charge: mechanistic insights into neuropathy-associated tRNA synthetase mutationsA novel HSD17B10 mutation impairing the activities of the mitochondrial RNase P complex causes X-linked intractable epilepsy and neurodevelopmental regressionEmerging 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.
P2860
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P2860
A recurrent loss-of-function alanyl-tRNA synthetase (AARS) mutation in patients with Charcot-Marie-Tooth disease type 2N (CMT2N)
description
2011 nî lūn-bûn
@nan
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
2011年论文
@zh
2011年论文
@zh-cn
name
A recurrent loss-of-function a ...... -Tooth disease type 2N (CMT2N)
@ast
A recurrent loss-of-function a ...... -Tooth disease type 2N (CMT2N)
@en
type
label
A recurrent loss-of-function a ...... -Tooth disease type 2N (CMT2N)
@ast
A recurrent loss-of-function a ...... -Tooth disease type 2N (CMT2N)
@en
prefLabel
A recurrent loss-of-function a ...... -Tooth disease type 2N (CMT2N)
@ast
A recurrent loss-of-function a ...... -Tooth disease type 2N (CMT2N)
@en
P2093
P2860
P50
P356
P1433
P1476
A recurrent loss-of-function a ...... -Tooth disease type 2N (CMT2N)
@en
P2093
Garth Nicholson
Heather M McLaughlin
James R Lupski
Marina Kennerson
Reiko Sakaguchi
Thomas E Wilson
William Giblin
P2860
P304
P356
10.1002/HUMU.21635
P50
P577
2011-11-09T00:00:00Z