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.
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A novel ADOA-associated OPA1 mutation alters the mitochondrial function, membrane potential, ROS production and apoptosis.An innovative strategy to clone positive modifier genes of defects caused by mtDNA mutations: MRPS18C as suppressor gene of m.3946G>A mutation in MT-ND1 gene.A Hypertension-Associated tRNAAla Mutation Alters tRNA Metabolism and Mitochondrial Function.A deafness-associated tRNAAsp mutation alters the m1G37 modification, aminoacylation and stability of tRNAAsp and mitochondrial function.Emerging Mechanisms of Aminoacyl-tRNA Synthetase Mutations in Recessive and Dominant Human Disease.A Deafness- and Diabetes-associated tRNA Mutation Causes Deficient Pseudouridinylation at Position 55 in tRNAGlu and Mitochondrial Dysfunction.A hypertension-associated mitochondrial DNA mutation alters the tertiary interaction and function of tRNALeu(UUR).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.A hypertension-associated mitochondrial DNA mutation introduces an m1G37 modification into tRNAMet, altering its structure and function.Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy.The metabolomic signature of Leber's hereditary optic neuropathy reveals endoplasmic reticulum stress.Biochemical evidence for a mitochondrial genetic modifier in the phenotypic manifestation of Leber's hereditary optic neuropathy-associated mitochondrial DNA mutation.Contribution of the tRNAIle 4317A>G mutation to the phenotypic manifestation of the deafness-associated mitochondrial 12S rRNA 1555A>G mutation.Incompatibility between mitochondrial and nuclear genomes during oogenesis results in ovarian failure and embryonic lethality.Leber hereditary optic neuropathy due to a new ND1 mutation.Mito-Nuclear Interactions Affecting Lifespan and Neurodegeneration in a Drosophila Model of Leigh Syndrome.Mechanistic basis of an epistatic interaction reducing age at onset in hereditary spastic paraplegia.Overexpression of human mitochondrial alanyl-tRNA synthetase suppresses biochemical defects of the mt-tRNA mutation in cybrids
P2860
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P2860
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.
description
2015 nî lūn-bûn
@nan
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
2015年论文
@zh
2015年论文
@zh-cn
name
The exome sequencing identifie ...... ed mitochondrial DNA mutation.
@en
type
label
The exome sequencing identifie ...... ed mitochondrial DNA mutation.
@en
prefLabel
The exome sequencing identifie ...... ed mitochondrial DNA mutation.
@en
P2093
P2860
P356
P1476
The exome sequencing identifie ...... ed mitochondrial DNA mutation.
@en
P2093
Fuxin Zhao
Juanjuan Zhang
Jun Qin Mo
Min-Xin Guan
Minglian Zhang
Pingping Jiang
P2860
P304
P356
10.1093/HMG/DDV498
P50
P577
2015-12-08T00:00:00Z