Compound heterozygous mutations in glycyl-tRNA synthetase are a proposed cause of systemic mitochondrial disease.
about
Compound heterozygous mutations in glycyl-tRNA synthetase (GARS) cause mitochondrial respiratory chain dysfunction.Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defectA novel AARS mutation in a family with dominant myeloneuropathy.Concordance between whole-exome sequencing and clinical Sanger sequencing: implications for patient care.Mitochondrial implications in bulbospinal muscular atrophy (Kennedy disease).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.Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy.Congenital Visual Impairment and Progressive Microcephaly Due to Lysyl-Transfer Ribonucleic Acid (RNA) Synthetase (KARS) Mutations: The Expanding Phenotype of Aminoacyl-Transfer RNA Synthetase Mutations in Human Disease.Compound heterozygosity for loss-of-function GARS variants results in a multisystem developmental syndrome that includes severe growth retardation.An Expanded Multi-Organ Disease Phenotype Associated with Mutations in YARS.The role of tRNA synthetases in neurological and neuromuscular disorders.A novel mutation of the glycyl-tRNA synthetase (GARS) gene associated with Charcot-Marie-Tooth type 2D in a Chinese family.Mutations in glycyl-tRNA-synthetase impair mitochondrial metabolism in neurons.KARS-related diseases: progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literature.A novel multisystem disease associated with recessive mutations in the tyrosyl-tRNA synthetase (YARS) gene.Bi-allelic Mutations in Phe-tRNA Synthetase Associated with a Multi-system Pulmonary Disease Support Non-translational Function
P2860
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P2860
Compound heterozygous mutations in glycyl-tRNA synthetase are a proposed cause of systemic mitochondrial disease.
description
2014 nî lūn-bûn
@nan
2014 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի մարտին հրատարակված գիտական հոդված
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2014年の論文
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2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
Compound heterozygous mutation ...... ystemic mitochondrial disease.
@ast
Compound heterozygous mutation ...... ystemic mitochondrial disease.
@en
type
label
Compound heterozygous mutation ...... ystemic mitochondrial disease.
@ast
Compound heterozygous mutation ...... ystemic mitochondrial disease.
@en
prefLabel
Compound heterozygous mutation ...... ystemic mitochondrial disease.
@ast
Compound heterozygous mutation ...... ystemic mitochondrial disease.
@en
P2093
P2860
P50
P356
P1433
P1476
Compound heterozygous mutation ...... ystemic mitochondrial disease.
@en
P2093
Amanda Smith
Chandree L Beaulieu
Dennis E Bulman
Jacek Majewski
Michael T Geraghty
Pranesh Chakraborty
P2860
P2888
P356
10.1186/1471-2350-15-36
P577
2014-03-26T00:00:00Z
P5875
P6179
1002975109