Biochemical characterization of the mitochondrial tRNASer(UCN) T7511C mutation associated with nonsyndromic deafness
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Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutationsFunctional characterization of the mitochondrial 12S rRNA C1494T mutation associated with aminoglycoside-induced and non-syndromic hearing lossFrequency of mitochondrial mutations in non-syndromic hearing loss as well as possibly responsible variants found by whole mitochondrial genome screeningHuman 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 diabetesA deafness-associated tRNAHis mutation alters the mitochondrial function, ROS production and membrane potential.Mitochondrial tRNAThr G15927A mutation may modulate the phenotypic manifestation of ototoxic 12S rRNA A1555G mutation in four Chinese families.Mitochondrial transfer RNAMet 4435A>G mutation is associated with maternally inherited hypertension in a Chinese pedigree.Failures in mitochondrial tRNAMet and tRNAGln metabolism caused by the novel 4401A>G mutation are involved in essential hypertension in a Han Chinese Family.Dual-mode recognition of noncanonical tRNAs(Ser) by seryl-tRNA synthetase in mammalian mitochondriaAminoglycoside stress together with the 12S rRNA 1494C>T mutation leads to mitophagy.Absence of GJB2 gene mutations, the GJB6 deletion (GJB6-D13S1830) and four common mitochondrial mutations in nonsyndromic genetic hearing loss in a South African population.Noncanonical secondary structure stabilizes mitochondrial tRNA(Ser(UCN)) by reducing the entropic cost of tertiary folding.Maternally inherited aminoglycoside-induced and nonsyndromic hearing loss is associated with the 12S rRNA C1494T mutation in three Han Chinese pedigrees.TRNA mutations that affect decoding fidelity deregulate development and the proteostasis network in zebrafishMitochondrial DNA and disease.Association of nuclear and mitochondrial genes with audiological examinations in Iranian patients with nonaminoglycoside antibiotics-induced hearing lossMitochondrial COX2 G7598A mutation may have a modifying role in the phenotypic manifestation of aminoglycoside antibiotic-induced deafness associated with 12S rRNA A1555G mutation in a Han Chinese pedigree.Mitochondrial rRNA and tRNA and hearing function.Noncoding RNAs and RNA editing in brain development, functional diversification, and neurological disease.A Hypertension-Associated tRNAAla Mutation Alters tRNA Metabolism and Mitochondrial Function.Coronary heart disease is associated with a mutation in mitochondrial tRNA.Variants in mitochondrial tRNA gene may not be associated with thyroid carcinomaAssociation between idiopathic hearing loss and mitochondrial DNA mutations: a study on 169 hearing-impaired subjects.Mitochondrial haplotypes may modulate the phenotypic manifestation of the deafness-associated 12S rRNA 1555A>G mutation.A deafness-associated tRNAAsp mutation alters the m1G37 modification, aminoacylation and stability of tRNAAsp and mitochondrial function.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.The exome sequencing identified the mutation in YARS2 encoding the mitochondrial tyrosyl-tRNA synthetase as a nuclear modifier for the phenotypic manifestation of Leber's hereditary optic neuropathy-associated mitochondrial DNA mutation.A novel mitochondrial tRNA(Ala) gene variant causes chronic progressive external ophthalmoplegia in a patient with Huntington disease.Biochemical Evidence for a Nuclear Modifier Allele (A10S) in TRMU (Methylaminomethyl-2-thiouridylate-methyltransferase) Related to Mitochondrial tRNA Modification in the Phenotypic Manifestation of Deafness-associated 12S rRNA Mutation.Mutational Analysis of Mitochondrial tRNA Genes in Patients with Asthma.Mutation in MTO1 involved in tRNA modification impairs mitochondrial RNA metabolism in the yeast Saccharomyces cerevisiaeMitochondrial 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.Contribution of the tRNAIle 4317A>G mutation to the phenotypic manifestation of the deafness-associated mitochondrial 12S rRNA 1555A>G mutation.Application of next‑generation sequencing to identify mitochondrial mutations: Study on m.7511T>C in patients with hearing loss.Isolated hearing loss associated with T7511C mutation in mitochondrial DNA.Transition m.3308T>C in the ND1 gene is associated with left ventricular hypertrabeculation/noncompaction.Clinical and molecular characterization of a Chinese patient with auditory neuropathy associated with mitochondrial 12S rRNA T1095C mutation.
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P2860
Biochemical characterization of the mitochondrial tRNASer(UCN) T7511C mutation associated with nonsyndromic deafness
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
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scientific article published on 11 February 2004
@en
vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Biochemical characterization of the mitochondrial tRNASer
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Biochemical characterization o ...... ted with nonsyndromic deafness
@en
type
label
Biochemical characterization of the mitochondrial tRNASer
@nl
Biochemical characterization o ...... ted with nonsyndromic deafness
@en
prefLabel
Biochemical characterization of the mitochondrial tRNASer
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Biochemical characterization o ...... ted with nonsyndromic deafness
@en
P2093
P2860
P356
P1476
Biochemical characterization o ...... ted with nonsyndromic deafness
@en
P2093
Faina Schwartz
Min-Xin Guan
Nathan Fischel-Ghodsian
Qingfeng Yan
Rick A Friedman
Xiaoming Li
P2860
P304
P356
10.1093/NAR/GKH226
P407
P577
2004-02-11T00:00:00Z