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.
about
Mutations in the Caenorhabditis elegans orthologs of human genes required for mitochondrial tRNA modification cause similar electron transport chain defects but different nuclear responses.A hypertension-associated mitochondrial DNA mutation introduces an m1G37 modification into tRNAMet, altering its structure and function.Heterozygous SSBP1 start loss mutation co-segregates with hearing loss and the m.1555A>G mtDNA variant in a large multigenerational family.Contribution of the tRNAIle 4317A>G mutation to the phenotypic manifestation of the deafness-associated mitochondrial 12S rRNA 1555A>G mutation.The mitochondrial epitranscriptome: the roles of RNA modifications in mitochondrial translation and human disease.Mitochondrial diseases caused by mtDNA mutations: a mini-review
P2860
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.
description
2017 nî lūn-bûn
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2017年の論文
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2017年論文
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2017年論文
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2017年論文
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2017年論文
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2017年論文
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2017年论文
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2017年论文
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2017年论文
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name
Biochemical Evidence for a Nuc ...... -associated 12S rRNA Mutation.
@en
type
label
Biochemical Evidence for a Nuc ...... -associated 12S rRNA Mutation.
@en
prefLabel
Biochemical Evidence for a Nuc ...... -associated 12S rRNA Mutation.
@en
P2093
P2860
P356
P1476
Biochemical Evidence for a Nuc ...... -associated 12S rRNA Mutation.
@en
P2093
Anna S Guan
Feilong Meng
Min-Xin Guan
Nathan Fischel-Ghosian
Qingqing Fan
Ronghua Li
Xiaohui Cang
Xiaoli Zhao
Yanyan Peng
P2860
P304
P356
10.1074/JBC.M116.749374
P407
P577
2017-01-03T00:00:00Z