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

Human Molecular Genetics

Volumn 25, Issue 3, 2016, Pages 584-596

  Jiang, Pingping ^a,b   Jin, Xiaofen ^a   Peng, Yanyan ^a,c   Wang, Meng ^a   Liu, Hao ^a   Liu, Xiaoling ^d   Zhang, Zengjun ^d   Ji, Yanchun ^a   Zhang, Juanjuan ^a,d   Liang, Min ^a   Zhao, Fuxin ^d   Sun, Yan Hong ^e   Zhang, Minglian ^f   Zhou, Xiangtian ^d   Chen, Ye ^a,b   Mo, Jun Qin ^g   Huang, Taosheng ^c   Qu, Jia ^d   Guan, Min Xin ^a,b  

^a ZHEJIANG UNIVERSITY SCHOOL OF MEDICINE   (China)

^b ZHEJIANG UNIVERSITY   (China)

^c CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

^d WENZHOU MEDICAL UNIVERSITY   (China)

^e BEIJING UNIVERSITY OF CHINESE MEDICINE   (China)

^f Hebei Provincial Eye Hospital   (China)

^g RADY CHILDREN'S HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME C; CYTOCHROME C OXIDASE; DNA FRAGMENT; GLYCINE TRANSFER RNA; LEUCINE TRANSFER RNA; LYSINE TRANSFER RNA; MITOCHONDRIAL DNA; OXYGEN; SERINE TRANSFER RNA; TYROSINE TRANSFER RNA LIGASE; CYCLOOXYGENASE 2; MITOCHONDRIAL PROTEIN; MT-ND6 PROTEIN, HUMAN; NADH DEHYDROGENASE SUBUNIT 4; ND5 PROTEIN, HUMAN; PTGS2 PROTEIN, HUMAN; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE);

ADULT; AMINOACYLATION; ARTICLE; BIOENERGY; CHINESE; CONTROLLED STUDY; ENZYME ACTIVE SITE; EXOME; FEMALE; GENE; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; HETEROZYGOTE; HUMAN; LEBER HEREDITARY OPTIC NEUROPATHY; LYMPHOBLASTOID CELL LINE; MAJOR CLINICAL STUDY; MALE; OXIDATIVE PHOSPHORYLATION; OXIDATIVE STRESS; OXYGEN CONSUMPTION; PEDIGREE; PHENOTYPE; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; WESTERN BLOTTING; YARS2 GENE; ALLELE; CASE CONTROL STUDY; CELL LINE; CHEMISTRY; ENZYMOLOGY; GENE EXPRESSION REGULATION; GENETIC PREDISPOSITION; GENETICS; HOMOZYGOTE; METABOLISM; MITOCHONDRION; MOLECULAR GENETICS; MOLECULAR MODEL; MUTATION; NERVE CELL; NUCLEOTIDE SEQUENCE; PATHOLOGY;

ALLELES; BASE SEQUENCE; CASE-CONTROL STUDIES; CELL LINE; CYCLOOXYGENASE 2; DNA, MITOCHONDRIAL; ELECTRON TRANSPORT COMPLEX I; ELECTRON TRANSPORT COMPLEX IV; EXOME; GENE EXPRESSION REGULATION; GENETIC PREDISPOSITION TO DISEASE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; MITOCHONDRIA; MITOCHONDRIAL PROTEINS; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION; NADH DEHYDROGENASE; NEURONS; OPTIC ATROPHY, HEREDITARY, LEBER; PEDIGREE; PHENOTYPE; TYROSINE-TRNA LIGASE;

EID: 84960875329     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddv498     Document Type: Article

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