(Q38813517)

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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

scientific article published on 8 December 2015

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Europe PubMed Central

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6 September 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 (English)

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6 September 2017

mitochondrial DNA

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9 June 2020

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Pingping Jiang

1

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9 June 2020

Xiaofen Jin

2

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9 June 2020

Yanyan Peng

3

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9 June 2020

Meng Wang

4

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9 June 2020

Hao Liu

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9 June 2020

Xiaoling Liu

6

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9 June 2020

Zengjun Zhang

7

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9 June 2020

Yanchun Ji

8

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9 June 2020

Juanjuan Zhang

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9 June 2020

Min Liang

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9 June 2020

Fuxin Zhao

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9 June 2020

Yan-Hong Sun

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9 June 2020

Minglian Zhang

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9 June 2020

Xiangtian Zhou

14

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9 June 2020

Ye Chen

15

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9 June 2020

Jun Qin Mo

16

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9 June 2020

Jia Qu

18

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9 June 2020

Min-Xin Guan

19

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9 June 2020

publication date

8 December 2015

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6 September 2017

Human Molecular Genetics

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9 June 2020

25

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9 June 2020

3

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9 June 2020

584-596

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9 June 2020

The epidemiology of Leber hereditary optic neuropathy in the North East of England

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV498

21 January 2018

Retinal ganglion cell neurodegeneration in mitochondrial inherited disorders

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV498

21 January 2018

Inherited mitochondrial optic neuropathies

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV498

21 January 2018

Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV498

21 January 2018

An enhanced MITOMAP with a global mtDNA mutational phylogeny

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV498

21 January 2018

Phylogenetic analysis of Leber's hereditary optic neuropathy mitochondrial DNA's indicates multiple independent occurrences of the common mutations

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV498

21 January 2018

Molecular epidemiology of mtDNA mutations in 903 Chinese families suspected with Leber hereditary optic neuropathy

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV498

21 January 2018

Mitochondrial haplotypes may modulate the phenotypic manifestation of the LHON-associated m.14484T>C (MT-ND6) mutation in Chinese families.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV498

21 January 2018

Functional analysis of lymphoblast and cybrid mitochondria containing the 3460, 11778, or 14484 Leber's hereditary optic neuropathy mitochondrial DNA mutation

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV498

21 January 2018

Respiration and growth defects in transmitochondrial cell lines carrying the 11778 mutation associated with Leber's hereditary optic neuropathy

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV498

21 January 2018

Efficient mitochondrial biogenesis drives incomplete penetrance in Leber's hereditary optic neuropathy

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV498

21 January 2018

Leber's hereditary optic neuropathy: a multifactorial disease.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV498

21 January 2018

Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV498

21 January 2018

The novel A4435G mutation in the mitochondrial tRNAMet may modulate the phenotypic expression of the LHON-associated ND4 G11778A mutation

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV498

21 January 2018

Identification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA disorder

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV498

21 January 2018

Genome-wide linkage scan and association study of PARL to the expression of LHON families in Thailand

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV498

21 January 2018

Very high penetrance and occurrence of Leber's hereditary optic neuropathy in a large Han Chinese pedigree carrying the ND4 G11778A mutation

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV498

21 January 2018

Frequency and spectrum of mitochondrial ND6 mutations in 1218 Han Chinese subjects with Leber's hereditary optic neuropathy

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV498

21 January 2018

Prevalence of Mitochondrial ND4 Mutations in 1281 Han Chinese Subjects With Leber's Hereditary Optic Neuropathy.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV498

21 January 2018

Cosegregation of the ND4 G11696A mutation with the LHON-associated ND4 G11778A mutation in a four generation Chinese family

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV498

21 January 2018

Toward the full set of human mitochondrial aminoacyl-tRNA synthetases: characterization of AspRS and TyrRS

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV498

21 January 2018

Structure of a tyrosyl-tRNA synthetase splicing factor bound to a group I intron RNA

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV498

21 January 2018

Evidence for aminoacylation-induced conformational changes in human mitochondrial tRNAs.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV498

21 January 2018

A deafness-associated tRNAHis mutation alters the mitochondrial function, ROS production and membrane potential.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV498

21 January 2018

Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV498

21 January 2018

Leber's hereditary optic neuropathy caused by the homoplasmic ND1 m.3635G>A mutation in nine Han Chinese families

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV498

21 January 2018

Assessing bioenergetic function in response to oxidative stress by metabolic profiling

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV498

21 January 2018

Leber's hereditary optic neuropathy is associated with the T3866C mutation in mitochondrial ND1 gene in three Han Chinese Families

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV498

21 January 2018

Evaluation of chemiluminescence and flow cytometry as tools in assessing production of hydrogen peroxide and superoxide anion in human spermatozoa.

1 reference

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21 January 2018

A peep into mitochondrial disorder: multifaceted from mitochondrial DNA mutations to nuclear gene modulation

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV498

21 January 2018

An Incompatibility between a mitochondrial tRNA and its nuclear-encoded tRNA synthetase compromises development and fitness in Drosophila

1 reference

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21 January 2018

Human mitochondrial tRNAs: biogenesis, function, structural aspects, and diseases

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV498

21 January 2018

Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV498

21 January 2018

Biochemical characterization of the mitochondrial tRNASer(UCN) T7511C mutation associated with nonsyndromic deafness

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV498

21 January 2018

The mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episode syndrome-associated human mitochondrial tRNALeu(UUR) mutation causes aminoacylation deficiency and concomitant reduced association of mRNA with ribosomes.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV498

21 January 2018

Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV498

21 January 2018

Mitochondrial disease associated with complex I (NADH-CoQ oxidoreductase) deficiency

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV498

21 January 2018

Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV498

21 January 2018

MtDNA mutation in MERRF syndrome causes defective aminoacylation of tRNA(Lys) and premature translation termination

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV498

21 January 2018

Severe impairment of complex I-driven adenosine triphosphate synthesis in leber hereditary optic neuropathy cybrids

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV498

21 January 2018

Leber hereditary optic neuropathy mtDNA mutations disrupt glutamate transport in cybrid cell lines.

1 reference

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21 January 2018

Bioenergetics of mitochondrial diseases associated with mtDNA mutations

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21 January 2018

Respiratory complex I dysfunction due to mitochondrial DNA mutations shifts the voltage threshold for opening of the permeability transition pore toward resting levels

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21 January 2018

Oxidative stress in inherited mitochondrial diseases

1 reference

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21 January 2018

Differentiation-specific effects of LHON mutations introduced into neuronal NT2 cells

1 reference

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21 January 2018

Leber's hereditary optic neuropathy (LHON) pathogenic mutations induce mitochondrial-dependent apoptotic death in transmitochondrial cells incubated with galactose medium

1 reference

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21 January 2018

Automating the identification of DNA variations using quality-based fluorescence re-sequencing: analysis of the human mitochondrial genome

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Analysis of aminoacylation of human mitochondrial tRNAs

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Coronary heart disease is associated with a mutation in mitochondrial tRNA.

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Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome

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An assembled complex IV maintains the stability and activity of complex I in mammalian mitochondria

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21 January 2018

Evidence for a Novel X-Linked Modifier Locus for Leber Hereditary Optic Neuropathy

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21 January 2018

A novel mutation in YARS2 causes myopathy with lactic acidosis and sideroblastic anemia

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21 January 2018

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10.1093/HMG/DDV498

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26647310%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

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9 June 2020

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