Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome
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Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndromeExome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathyRMND1 deficiency associated with neonatal lactic acidosis, infantile onset renal failure, deafness, and multiorgan involvementMutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizuresEvolutionary Limitation and Opportunities for Developing tRNA Synthetase Inhibitors with 5-Binding-Mode ClassificationMitochondrial disease in adults: what's old and what's new?Iron-sulfur cluster biogenesis in mammalian cells: New insights into the molecular mechanisms of cluster deliveryEvolutionary conservation and expression of human RNA-binding proteins and their role in human genetic diseaseMitochondrial disorders: challenges in diagnosis & treatmentInfantile encephaloneuromyopathy and defective mitochondrial translation are due to a homozygous RMND1 mutation.Mutations in the mitochondrial methionyl-tRNA synthetase cause a neurodegenerative phenotype in flies and a recessive ataxia (ARSAL) in humansA framework for application of metabolic modeling in yeast to predict the effects of nsSNV in human orthologsA Newly Identified Missense Mutation in FARS2 Causes Autosomal-Recessive Spastic ParaplegiaMECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis DisorderRecent advances in the understanding of myelodysplastic syndromes with ring sideroblasts.The Mitochondrial Aminoacyl tRNA Synthetases: Genes and Syndromes.The crystal structure of human GlnRS provides basis for the development of neurological disorders.Haematological abnormalities in mitochondrial disorders.G×G×E for lifespan in Drosophila: mitochondrial, nuclear, and dietary interactions that modify longevity.Mitochondrial EFTs defects in juvenile-onset Leigh disease, ataxia, neuropathy, and optic atrophy.Mutations in the mitochondrial seryl-tRNA synthetase cause hyperuricemia, pulmonary hypertension, renal failure in infancy and alkalosis, HUPRA syndromeExome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy.Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity.New aminoacyl-tRNA synthetase-like protein in insecta with an essential mitochondrial function.An Incompatibility between a mitochondrial tRNA and its nuclear-encoded tRNA synthetase compromises development and fitness in Drosophila.A review of the diverse genetic disorders in the Lebanese population: highlighting the urgency for community genetic services.Rare recessive loss-of-function methionyl-tRNA synthetase mutations presenting as a multi-organ phenotype.A Novel Homozygous YARS2 Mutation in Two Italian Siblings and a Review of Literature.Evolutionary and structural annotation of disease-associated mutations in human aminoacyl-tRNA synthetases.The 3' addition of CCA to mitochondrial tRNASer(AGY) is specifically impaired in patients with mutations in the tRNA nucleotidyl transferase TRNT1.A novel AARS mutation in a family with dominant myeloneuropathy.Divergent Alanyl-tRNA Synthetase Genes of Vanderwaltozyma polyspora Descended from a Common Ancestor through Whole-Genome Duplication Followed by Asymmetric EvolutionBiogenesis of iron-sulfur clusters in mammalian cells: new insights and relevance to human disease.Mutation analysis of Chinese sporadic congenital sideroblastic anemia by targeted capture sequencing.Spectrum of combined respiratory chain defects.A Drosophila model for mito-nuclear diseases generated by an incompatible interaction between tRNA and tRNA synthetase.A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivoFifty years excitement with science: recollections with and without tRNAAminoacyl-tRNA synthetases in medicine and diseaseUnusual clinical expression and long survival of a pseudouridylate synthase (PUS1) mutation into adulthood
P2860
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P2860
Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome
description
2010 nî lūn-bûn
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2010 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
Mutation of the mitochondrial ...... blastic anemia--MLASA syndrome
@ast
Mutation of the mitochondrial ...... blastic anemia--MLASA syndrome
@en
Mutation of the mitochondrial ...... blastic anemia--MLASA syndrome
@en-gb
Mutation of the mitochondrial ...... blastic anemia--MLASA syndrome
@nl
type
label
Mutation of the mitochondrial ...... blastic anemia--MLASA syndrome
@ast
Mutation of the mitochondrial ...... blastic anemia--MLASA syndrome
@en
Mutation of the mitochondrial ...... blastic anemia--MLASA syndrome
@en-gb
Mutation of the mitochondrial ...... blastic anemia--MLASA syndrome
@nl
prefLabel
Mutation of the mitochondrial ...... blastic anemia--MLASA syndrome
@ast
Mutation of the mitochondrial ...... blastic anemia--MLASA syndrome
@en
Mutation of the mitochondrial ...... blastic anemia--MLASA syndrome
@en-gb
Mutation of the mitochondrial ...... blastic anemia--MLASA syndrome
@nl
P2093
P2860
P50
P921
P3181
P1476
Mutation of the mitochondrial ...... blastic anemia--MLASA syndrome
@en
P2093
Lisa G Riley
Melanie Bahlo
Sandra Cooper
P2860
P3181
P356
10.1016/J.AJHG.2010.06.001
P407
P50
P577
2010-07-09T00:00:00Z