Specific correlation between the wobble modification deficiency in mutant tRNAs and the clinical features of a human mitochondrial disease.
about
Nuclear and mitochondrial tRNA-lookalikes in the human genomeTrmt61B is a methyltransferase responsible for 1-methyladenosine at position 58 of human mitochondrial tRNAsBiosynthesis of wybutosine, a hyper-modified nucleoside in eukaryotic phenylalanine tRNANucleoside modifications in the regulation of gene expression: focus on tRNACodon-biased translation can be regulated by wobble-base tRNA modification systems during cellular stress responsesMethylated nucleosides in tRNA and tRNA methyltransferasesHuman mitochondrial diseases caused by lack of taurine modification in mitochondrial tRNAsModified uridines with C5-methylene substituents at the first position of the tRNA anticodon stabilize U.G wobble pairing during decodingModify or die?--RNA modification defects in metazoansNSUN3 methylase initiates 5-formylcytidine biogenesis in human mitochondrial tRNA(Met)Yeast as a model of human mitochondrial tRNA base substitutions: investigation of the molecular basis of respiratory defectsNew evidence of a mitochondrial genetic background paradox: impact of the J haplogroup on the A3243G mutation.Transfer RNA and human diseaseA complete landscape of post-transcriptional modifications in mammalian mitochondrial tRNAs.A functionally dominant mitochondrial DNA mutation.Is mitochondrial tRNA(phe) variant m.593T>C a synergistically pathogenic mutation in Chinese LHON families with m.11778G>A?A novel mitochondrial tRNA(Val) T1658C mutation identified in a CPEO family.A novel mutation in the mitochondrial tRNA(Pro) gene associated with late-onset ataxia, retinitis pigmentosa, deafness, leukoencephalopathy and complex I deficiencyPhysiological roles of taurine in heart and muscleCharacterization of human GTPBP3, a GTP-binding protein involved in mitochondrial tRNA modification.MTO1 mediates tissue specificity of OXPHOS defects via tRNA modification and translation optimization, which can be bypassed by dietary intervention.Transfer RNA detection by small RNA deep sequencing and disease association with myelodysplastic syndromes.Molecular pathomechanisms and cell-type-specific disease phenotypes of MELAS caused by mutant mitochondrial tRNA(Trp).Pathogenic mechanism of a human mitochondrial tRNAPhe mutation associated with myoclonic epilepsy with ragged red fibers syndrome.4-Demethylwyosine synthase from Pyrococcus abyssi is a radical-S-adenosyl-L-methionine enzyme with an additional [4Fe-4S](+2) cluster that interacts with the pyruvate co-substrateOxidative stress and dysregulation of the taurine transporter in high-glucose-exposed human Schwann cells: implications for pathogenesis of diabetic neuropathyHuman mitochondrial tRNA quality control in health and disease: a channelling mechanism?Role of taurine in the pathologies of MELAS and MERRF.Effect of taurine and potential interactions with caffeine on cardiovascular function.Nuclear-encoded factors involved in post-transcriptional processing and modification of mitochondrial tRNAs in human disease.A protein extension to shorten RNA: elongated elongation factor-Tu recognizes the D-arm of T-armless tRNAs in nematode mitochondria.Concise Review: Heteroplasmic Mitochondrial DNA Mutations and Mitochondrial Diseases: Toward iPSC-Based Disease Modeling, Drug Discovery, and Regenerative Therapeutics.A Deafness- and Diabetes-associated tRNA Mutation Causes Deficient Pseudouridinylation at Position 55 in tRNAGlu and Mitochondrial Dysfunction.MERRF and Kearns-Sayre overlap syndrome due to the mitochondrial DNA m.3291T>C mutation.The expanding phenotype of MELAS caused by the m.3291T > C mutation in the MT-TL1 gene.Benign mitochondrial myopathy with exercise intolerance in a large multigeneration family due to a homoplasmic m.3250T>C mutation in MTTL1.Mitochondrial defects associated with β-alanine toxicity: relevance to hyper-beta-alaninemiaAcquisition of the wobble modification in mitochondrial tRNALeu(CUN) bearing the G12300A mutation suppresses the MELAS molecular defect.Molecular dysfunction associated with the human mitochondrial 3302A>G mutation in the MTTL1 (mt-tRNALeu(UUR)) gene.The m.3244G>A mutation in mtDNA is another cause of progressive external ophthalmoplegia
P2860
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P2860
Specific correlation between the wobble modification deficiency in mutant tRNAs and the clinical features of a human mitochondrial disease.
description
2005 nî lūn-bûn
@nan
2005 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
name
Specific correlation between t ...... a human mitochondrial disease.
@ast
Specific correlation between t ...... a human mitochondrial disease.
@en
type
label
Specific correlation between t ...... a human mitochondrial disease.
@ast
Specific correlation between t ...... a human mitochondrial disease.
@en
prefLabel
Specific correlation between t ...... a human mitochondrial disease.
@ast
Specific correlation between t ...... a human mitochondrial disease.
@en
P2860
P50
P356
P1476
Specific correlation between t ...... a human mitochondrial disease.
@en
P2093
Yolanda Campos
Yu-Ichi Goto
P2860
P304
P356
10.1073/PNAS.0500563102
P407
P577
2005-05-03T00:00:00Z