Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defect
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Evolutionary Limitation and Opportunities for Developing tRNA Synthetase Inhibitors with 5-Binding-Mode ClassificationBiallelic mutations in the gene encoding eEF1A2 cause seizures and sudden death in F0 miceWhole exome sequencing and DNA methylation analysis in a clinical amyotrophic lateral sclerosis cohortMonoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar AtrophyGenotype/phenotype correlations in AARS-related neuropathy in a cohort of patients from the United Kingdom and Ireland.Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes.Whole exome sequencing in patients with white matter abnormalities.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.Predicting the pathogenicity of aminoacyl-tRNA synthetase mutations.Integrated classification of inflammatory myopathies.The NIH Undiagnosed Diseases Program and Network: Applications to modern medicine.Regulation of mRNA Translation in Neurons-A Matter of Life and Death.An Expanded Multi-Organ Disease Phenotype Associated with Mutations in YARS.The role of tRNA synthetases in neurological and neuromuscular disorders.Substrate interaction defects in histidyl-tRNA synthetase linked to dominant axonal peripheral neuropathy.Mutations in RARS cause a hypomyelination disorder akin to Pelizaeus-Merzbacher disease.Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy.A novel multisystem disease associated with recessive mutations in the tyrosyl-tRNA synthetase (YARS) gene.Backbone Brackets and Arginine Tweezers delineate Class I and Class II aminoacyl tRNA synthetases.Bi-allelic Mutations in Phe-tRNA Synthetase Associated with a Multi-system Pulmonary Disease Support Non-translational Function
P2860
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P2860
Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defect
description
2015 nî lūn-bûn
@nan
2015 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2015 թվականի մարտին հրատարակված գիտական հոդված
@hy
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
name
Loss-of-function alanyl-tRNA s ...... persistent myelination defect
@ast
Loss-of-function alanyl-tRNA s ...... persistent myelination defect
@en
type
label
Loss-of-function alanyl-tRNA s ...... persistent myelination defect
@ast
Loss-of-function alanyl-tRNA s ...... persistent myelination defect
@en
prefLabel
Loss-of-function alanyl-tRNA s ...... persistent myelination defect
@ast
Loss-of-function alanyl-tRNA s ...... persistent myelination defect
@en
P2093
P2860
P50
P1476
Loss-of-function alanyl-tRNA s ...... persistent myelination defect
@en
P2093
Adeline Vanderver
Amy Pizzino
Cyndi Tifft
Gretchen Golas
Howard Gamper
Jennifer L P Murphy
Katrina B Lu
Kimberly A Chapman
Laurie B Griffin
Matthew T Whitehead
P2860
P304
P356
10.1016/J.AJHG.2015.02.012
P407
P577
2015-03-26T00:00:00Z