相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。Mutational analysis of mitochondrial tRNA genes in 138 patients with Leber's hereditary optic neuropathy
Jie Shuai et al.
IRISH JOURNAL OF MEDICAL SCIENCE (2022)
A deafness-associated tRNA mutation caused pleiotropic effects on the m1G37 modification, processing, stability and aminoacylation of tRNAIIe and mitochondrial translation
Feilong Meng et al.
NUCLEIC ACIDS RESEARCH (2021)
An animal model for mitochondrial tyrosyl-tRNA synthetase deficiency reveals links between oxidative phosphorylation and retinal function
Xiaofen Jin et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2021)
Tissue-specific expression atlas of murine mitochondrial tRNAs
Qiufen He et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2021)
Mechanistic insights into mitochondrial tRNAAla 3′-end metabolism deficiency
Yanchun Ji et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2021)
Leber's Hereditary Optic Neuropathy Arising From the Synergy Between ND1 3635G>A Mutation and Mitochondrial YARS2 Mutations
Xiaofen Jin et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2021)
Assocation Between Leber's Hereditary Optic Neuropathy and MT-ND1 3460G>A Mutation-Induced Alterations in Mitochondrial Function, Apoptosis, and Mitophagy
Juanjuan Zhang et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2021)
Mitochondrial tRNA mutations in 887 Chinese subjects with hearing loss
Jing Zheng et al.
MITOCHONDRION (2020)
Complex I mutations synergize to worsen the phenotypic expression of Leber's hereditary optic neuropathy
Yanchun Ji et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2020)
PRICKLE3 linked to ATPase biogenesis manifested Leber's hereditary optic neuropathy
Jialing Yu et al.
JOURNAL OF CLINICAL INVESTIGATION (2020)
Asymmetrical effects of deafness-associated mitochondrial DNA 7516delA mutation on the processing of RNAs in the H-strand and L-strand polycistronic transcripts
Yun Xiao et al.
NUCLEIC ACIDS RESEARCH (2020)
Contribution of a mitochondrial tyrosyl-tRNA synthetase mutation to the phenotypic expression of the deafness-associated tRNASer(UCN) 7511A>G mutation
Wenlu Fan et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2019)
Contribution of mitochondrial ND1 3394T>C mutation to the phenotypic manifestation of Leber's hereditary optic neuropathy
Yanchun Ji et al.
HUMAN MOLECULAR GENETICS (2019)
A coronary artery disease-associated tRNAThr mutation altered mitochondrial function, apoptosis and angiogenesis
Zidong Jia et al.
NUCLEIC ACIDS RESEARCH (2019)
A hypertension-associated mitochondrial DNA mutation introduces an m1G37 modification into tRNAMet, altering its structure and function
Mi Zhou et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2018)
Leber's hereditary optic neuropathy caused by a mutation in mitochondrial tRNAThr in eight Chinese pedigrees
Juanjuan Zhang et al.
MITOCHONDRION (2018)
Leber's hereditary optic neuropathy (LHON)-associated ND5 12338T > C mutation altered the assembly and function of complex I, apoptosis and mitophagy
Juanjuan Zhang et al.
HUMAN MOLECULAR GENETICS (2018)
Incomplete penetrance in mitochondrial optic neuropathies
Leonardo Caporali et al.
MITOCHONDRION (2017)
Leber hereditary optic neuropathy: bridging the translational gap
Neringa Jurkute et al.
CURRENT OPINION IN OPHTHALMOLOGY (2017)
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
Pingping Jiang et al.
HUMAN MOLECULAR GENETICS (2016)
Biochemical evidence for a mitochondrial genetic modifier in the phenotypic manifestation of Leber's hereditary optic neuropathy-associated mitochondrial DNA mutation
Pingping Jiang et al.
HUMAN MOLECULAR GENETICS (2016)
A Deafness- and Diabetes-associated tRNA Mutation Causes Deficient Pseudouridinylation at Position 55 in tRNAGlu and Mitochondrial Dysfunction
Meng Wang et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2016)
Mitochondrial tRNA mutations in 2070 Chinese Han subjects with hypertension
Ling Xue et al.
MITOCHONDRION (2016)
A deafness-associated tRNAAsp mutation alters the m1G37 modification, aminoacylation and stability of tRNAAsp and mitochondrial function
Meng Wang et al.
NUCLEIC ACIDS RESEARCH (2016)
Mitochondrial ND1 Variants in 1281 Chinese Subjects With Leber's Hereditary Optic Neuropathy
Yanchun Ji et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2016)
Maternally inherited diabetes is associated with a homoplasmic T10003C mutation in the mitochondrial tRNA(Gly) gene
Hao Liu et al.
MITOCHONDRION (2015)
Emerging roles of tRNA in adaptive translation, signalling dynamics and disease
Sebastian Kirchner et al.
NATURE REVIEWS GENETICS (2015)
Prevalence of Mitochondrial ND4 Mutations in 1281 Han Chinese Subjects With Leber's Hereditary Optic Neuropathy
Pingping Jiang et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2015)
Leber's hereditary optic neuropathy caused by the homoplasmic ND1 m.3635G > A mutation in nine Han Chinese families
Juanjuan Zhang et al.
MITOCHONDRION (2014)
A deafness-associated tRNAHis mutation alters the mitochondrial function, ROS production and membrane potential
Shasha Gong et al.
NUCLEIC ACIDS RESEARCH (2014)
Frequency and Spectrum of Mitochondrial ND6 Mutations in 1218 Han Chinese Subjects With Leber's Hereditary Optic Neuropathy
Min Liang et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2014)
Mitochondrial haplotypes may modulate the phenotypic manifestation of the LHON-associated m.14484T>C (MT-ND6) mutation in Chinese families
Juanjuan Zhang et al.
MITOCHONDRION (2013)
Mitochondrial tRNA mutations associated with deafness
Jing Zheng et al.
MITOCHONDRION (2012)
Leber's Hereditary Optic Neuropathy Is Associated with the T3866C Mutation in Mitochondrial ND1 Gene in Three Han Chinese Families
Xiangtian Zhou et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2012)
Human Mitochondrial tRNAs: Biogenesis, Function, Structural Aspects, and Diseases
Tsutomu Suzuki et al.
ANNUAL REVIEW OF GENETICS, VOL 45 (2011)
Nucleotide modifications and tRNA anticodon-mRNA codon interactions on the ribosome
Olof Allner et al.
RNA (2011)
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
Ronghua Li et al.
MOLECULAR AND CELLULAR BIOLOGY (2010)
Mitochondrial Transfer RNAMet 4435A>G Mutation Is Associated With Maternally Inherited Hypertension in a Chinese Pedigree
Yuqi Liu et al.
HYPERTENSION (2009)
Extremely Low Penetrance of Leber's Hereditary Optic Neuropathy in 8 Han Chinese Families Carrying the ND4 G11778A Mutation
Jia Qu et al.
OPHTHALMOLOGY (2009)
Mitochondrial DNA Haplogroups M7b1′2 and M8a Affect Clinical Expression of Leber Hereditary Optic Neuropathy in Chinese Families with the m.11778G → A Mutation
Yanli Ji et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2008)
Mitochondrial DNA background modulates the assembly kinetics of OXPHOS complexes in a cellular model of mitochondrial disease
Rosa Pello et al.
HUMAN MOLECULAR GENETICS (2008)
An enhanced MITOMAP with a global mtDNA mutational phylogeny
Eduardo Ruiz-Pesini et al.
NUCLEIC ACIDS RESEARCH (2007)
Tissue-specific differences in human transfer RNA expression
Kimberly A. Dittmar et al.
PLOS GENETICS (2006)
Evidence for adaptive selection acting on the tRNA and rRNA genes of human mitochondrial DNA
Eduardo Ruiz-Pesini et al.
HUMAN MUTATION (2006)
Formation of the conserved pseudouridine at position 55 in archaeal tRNA
Martine Roovers et al.
NUCLEIC ACIDS RESEARCH (2006)
The mitochondrial tRNAThr A15951G mutation may influence the phenotypic expression of the LHON-associated ND4 G1 1778A mutation in a Chinese family
Li Ronghua et al.
GENE (2006)
Leber's hereditary optic neuropathy: A multifactorial disease
May-Yung Yen et al.
PROGRESS IN RETINAL AND EYE RESEARCH (2006)
Updating the East Asian mtDNA phylogeny: a prerequisite for the identification of pathogenic mutations
Qing-Peng Kong et al.
HUMAN MOLECULAR GENETICS (2006)
The novel A4435G mutation in the mitochondrial tRNAMet may modulate the phenotypic expression of the LHON-associated ND4 G11778A mutation
J Qu et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2006)
Human mitochondrial tRNAs in health and disease
C Florentz et al.
CELLULAR AND MOLECULAR LIFE SCIENCES (2003)
分享论文
