Human mitochondrial leucyl-tRNA synthetase corrects mitochondrial dysfunctions due to the tRNALeu(UUR) A3243G mutation, associated with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like symptoms and diabetes

Human mitochondrial leucyl-tRNA synthetase corrects mitochondrial dysfunctions due to the tRNALeu(UUR) A3243G mutation, associated with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like symptoms and diabetes

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http://www.wikidata.org/entity/Q33826223

Q33826223

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Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome Roles of interstitial fluid pH in diabetes mellitus: Glycolysis and mitochondrial function The Mitochondrial Aminoacyl tRNA Synthetases: Genes and Syndromes.Transfer RNA and human disease A deafness-associated tRNAHis mutation alters the mitochondrial function, ROS production and membrane potential.Multiple pathogenic proteins implicated in neuronopathic Gaucher disease mice Current proceedings of childhood stroke.Correction of the consequences of mitochondrial 3243A>G mutation in the MT-TL1 gene causing the MELAS syndrome by tRNA import into mitochondria.Structural and functional role of bases 32 and 33 in the anticodon loop of yeast mitochondrial tRNAIle Screening of mitochondrial mutations and insertion-deletion polymorphism in gestational diabetes mellitus in the Asian Indian population.Yeast as a system for modeling mitochondrial disease mechanisms and discovering therapies.Metabolically induced heteroplasmy shifting and l-arginine treatment reduce the energetic defect in a neuronal-like model of MELAS.A Drosophila model for mito-nuclear diseases generated by an incompatible interaction between tRNA and tRNA synthetase.Comprehensive analysis of transcriptome and metabolome analysis in Intrahepatic Cholangiocarcinoma and Hepatocellular Carcinoma.Short peptides from leucyl-tRNA synthetase rescue disease-causing mitochondrial tRNA point mutations.Aminoacyl-tRNA synthetases in medicine and disease Human mitochondrial disease-like symptoms caused by a reduced tRNA aminoacylation activity in flies.A Hypertension-Associated tRNAAla Mutation Alters tRNA Metabolism and Mitochondrial Function.miRNAs in mtDNA-less cell mitochondria.Coronary heart disease is associated with a mutation in mitochondrial tRNA.A deafness-associated tRNAAsp mutation alters the m1G37 modification, aminoacylation and stability of tRNAAsp and mitochondrial function.Loss of the mitochondrial protein-only ribonuclease P complex causes aberrant tRNA processing and lethality in Drosophila.Human mitochondrial tRNA quality control in health and disease: a channelling mechanism?Role of taurine in the pathologies of MELAS and MERRF.The role of mitochondrial DNA mutations in hearing loss.A Deafness- and Diabetes-associated tRNA Mutation Causes Deficient Pseudouridinylation at Position 55 in tRNAGlu and Mitochondrial Dysfunction.Peptides from aminoacyl-tRNA synthetases can cure the defects due to mutations in mt tRNA genes.Predicting the pathogenicity of aminoacyl-tRNA synthetase mutations.Multilevel functional and structural defects induced by two pathogenic mitochondrial tRNA mutations.A hypertension-associated mitochondrial DNA mutation alters the tertiary interaction and function of tRNALeu(UUR).The phenotypic expression of mitochondrial tRNA-mutations can be modulated by either mitochondrial leucyl-tRNA synthetase or the C-terminal domain thereof.The isolated carboxy-terminal domain of human mitochondrial leucyl-tRNA synthetase rescues the pathological phenotype of mitochondrial tRNA mutations in human cells Human mitochondrial leucyl tRNA synthetase can suppress non cognate pathogenic mt-tRNA mutations Mitochondrial tRNA mutations are associated with maternally inherited hypertension in two Han Chinese pedigrees.A hypertension-associated mitochondrial DNA mutation introduces an m1G37 modification into tRNAMet, altering its structure and function.Functional Mitochondria in Health and Disease.Overexpression of human mitochondrial alanyl-tRNA synthetase suppresses biochemical defects of the mt-tRNA mutation in cybrids

P2860

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P2860

Human mitochondrial leucyl-tRNA synthetase corrects mitochondrial dysfunctions due to the tRNALeu(UUR) A3243G mutation, associated with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like symptoms and diabetes

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http://www.wikidata.org/entity/Q33826223

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2010年の論文

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