{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,3]],"date-time":"2026-11-03T19:24:04Z","timestamp":1793733844250,"version":"4.6.1"},"reference-count":69,"publisher":"Elsevier BV","issue":"9","license":[{"start":{"date-parts":[[2018,3,1]],"date-time":"2018-03-01T00:00:00Z","timestamp":1519862400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2020,8,29]],"date-time":"2020-08-29T00:00:00Z","timestamp":1598659200000},"content-version":"vor","delay-in-days":912,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100002855","name":"Ministry of Science and Technology of the People's Republic of China (MOST)","doi-asserted-by":"publisher","award":["2014CB541704"],"award-info":[{"award-number":["2014CB541704"]}],"id":[{"id":"10.13039\/501100002855","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China (NSFC)","doi-asserted-by":"publisher","award":["81330024"],"award-info":[{"award-number":["81330024"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China (NSFC)","doi-asserted-by":"publisher","award":["81700922"],"award-info":[{"award-number":["81700922"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China (NSFC)","doi-asserted-by":"publisher","award":["81500804"],"award-info":[{"award-number":["81500804"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China (NSFC)","doi-asserted-by":"publisher","award":["81670944"],"award-info":[{"award-number":["81670944"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["jbc.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of Biological Chemistry"],"published-print":{"date-parts":[[2018,3]]},"DOI":"10.1074\/jbc.ra117.000530","type":"journal-article","created":{"date-parts":[[2018,1,18]],"date-time":"2018-01-18T10:59:58Z","timestamp":1516273198000},"page":"3321-3334","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":38,"title":["Contribution of the tRNAIle 4317A\u2192G mutation to the phenotypic manifestation of the deafness-associated mitochondrial 12S rRNA 1555A\u2192G mutation"],"prefix":"10.1016","volume":"293","author":[{"given":"Feilong","family":"Meng","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zheyun","family":"He","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaowen","family":"Tang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jing","family":"Zheng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaofen","family":"Jin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yi","family":"Zhu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaoyan","family":"Ren","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mi","family":"Zhou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meng","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shasha","family":"Gong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jun Qin","family":"Mo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qiang","family":"Shu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Min-Xin","family":"Guan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1074\/jbc.RA117.000530_bib1","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1002\/(SICI)1098-1004(1999)13:4<261::AID-HUMU1>3.0.CO;2-W","article-title":"Mitochondrial deafness mutations reviewed","volume":"13","author":"Fischel-Ghodsian","year":"1999","journal-title":"Hum. Mutat"},{"key":"10.1074\/jbc.RA117.000530_bib2","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1016\/j.mito.2010.10.006","article-title":"Mitochondrial 12S rRNA mutations associated with aminoglycoside ototoxicity","volume":"11","author":"Guan","year":"2011","journal-title":"Mitochondrion"},{"key":"10.1074\/jbc.RA117.000530_bib3","doi-asserted-by":"crossref","first-page":"406","DOI":"10.1016\/j.mito.2012.04.001","article-title":"Mitochondrial tRNA mutations associated with deafness","volume":"12","author":"Zheng","year":"2012","journal-title":"Mitochondrion"},{"key":"10.1074\/jbc.RA117.000530_bib4","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1038\/13779","article-title":"Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA","volume":"23","author":"Andrews","year":"1999","journal-title":"Nat. Genet"},{"key":"10.1074\/jbc.RA117.000530_bib5","doi-asserted-by":"crossref","first-page":"5868","DOI":"10.1128\/MCB.18.10.5868","article-title":"The deafness-associated mitochondrial DNA mutation at position 7445, which affects tRNASer(UCN) precursor processing, has long-range effects on NADH dehydrogenase subunit ND6 gene expression","volume":"18","author":"Guan","year":"1998","journal-title":"Mol. Cell. Biol"},{"key":"10.1074\/jbc.RA117.000530_bib6","doi-asserted-by":"crossref","first-page":"867","DOI":"10.1093\/nar\/gkh226","article-title":"Biochemical characterization of the mitochondrial tRNASer(UCN) T7511C mutation associated with non-syndromic deafness","volume":"32","author":"Li","year":"2004","journal-title":"Nucleic Acids Res"},{"key":"10.1074\/jbc.RA117.000530_bib7","doi-asserted-by":"crossref","first-page":"e44054","DOI":"10.1371\/journal.pone.0044054","article-title":"Postlingual hearing loss as a mitochondrial 3243A>G mutation phenotype","volume":"7","author":"Iwanicka-Pronicka","year":"2012","journal-title":"PLoS ONE"},{"key":"10.1074\/jbc.RA117.000530_bib8","doi-asserted-by":"crossref","first-page":"8039","DOI":"10.1093\/nar\/gku466","article-title":"A deafness-associated tRNAHis mutation alters the mitochondrial function, ROS production and membrane potential","volume":"42","author":"Gong","year":"2014","journal-title":"Nucleic Acids Res"},{"key":"10.1074\/jbc.RA117.000530_bib9","doi-asserted-by":"crossref","first-page":"10974","DOI":"10.1093\/nar\/gkw726","article-title":"A deafness-associated tRNAAsp mutation alters the m1G37 modification, aminoacylation and stability of tRNAAsp and mitochondrial function","volume":"44","author":"Wang","year":"2016","journal-title":"Nucleic Acids Res"},{"key":"10.1074\/jbc.RA117.000530_bib10","doi-asserted-by":"crossref","first-page":"21029","DOI":"10.1074\/jbc.M116.739482","article-title":"A deafness and diabetes associated tRNA mutation caused the deficient pseudouridinylation at position 55 in tRNAGlu and mitochondrial dysfunction","volume":"291","author":"Wang","year":"2016","journal-title":"J. Biol. Chem"},{"key":"10.1074\/jbc.RA117.000530_bib11","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1038\/ng0793-289","article-title":"Mitochondrial ribosomal-RNA mutation associated with both antibiotic-reduced and non-syndromic deafness","volume":"4","author":"Prezant","year":"1993","journal-title":"Nat. Genet"},{"key":"10.1074\/jbc.RA117.000530_bib12","doi-asserted-by":"crossref","first-page":"632","DOI":"10.1136\/jmg.40.8.632","article-title":"Heteroplasmy for the 1555A>G mutation in the mitochondrial 12S rRNA gene in six Spanish families with non-syndromic hearing loss","volume":"40","author":"del Castillo","year":"2003","journal-title":"J. Med. Genet"},{"key":"10.1074\/jbc.RA117.000530_bib13","doi-asserted-by":"crossref","first-page":"615","DOI":"10.1136\/jmg.2004.020230","article-title":"Molecular analysis of mitochondrial 12S rRNA and tRNASer(UCN) genes in paediatric subjects with non-syndromic hearing loss","volume":"41","author":"Li","year":"2004","journal-title":"J. Med. Genet"},{"key":"10.1074\/jbc.RA117.000530_bib14","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1086\/381133","article-title":"Maternally inherited aminoglycoside-induced and non-syndromic deafness is associated with the novel C1494T mutation in the mitochondrial 12S rRNA gene in a large Chinese family","volume":"74","author":"Zhao","year":"2004","journal-title":"Am. J. Hum. Genet"},{"key":"10.1074\/jbc.RA117.000530_bib15","doi-asserted-by":"crossref","first-page":"380","DOI":"10.1016\/j.mito.2010.01.007","article-title":"Mitochondrial 12S rRNA variants in 1642 Han Chinese pediatric subjects with aminoglycoside-induced and non-syndromic hearing loss","volume":"10","author":"Lu","year":"2010","journal-title":"Mitochondrion"},{"key":"10.1074\/jbc.RA117.000530_bib16","doi-asserted-by":"crossref","first-page":"1085","DOI":"10.1097\/00005537-200406000-00024","article-title":"Deafness due to A1555G mitochondrial mutation without use of aminoglycoside","volume":"114","author":"Matsunaga","year":"2004","journal-title":"Laryngoscope"},{"key":"10.1074\/jbc.RA117.000530_bib17","doi-asserted-by":"crossref","first-page":"46","DOI":"10.1159\/000472169","article-title":"Non-syndromic deafness associated with a mutation and a polymorphism in the mitochondrial 12S ribosomal RNA gene in a large Zairean pedigree","volume":"4","author":"Matthijs","year":"1996","journal-title":"Eur. J. Hum. Genet"},{"key":"10.1074\/jbc.RA117.000530_bib18","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1111\/ahg.12161","article-title":"Genetic epidemiology of mitochondrial pathogenic variants causing non-syndromic hearing loss in a large cohort of south Indian hearing impaired individuals","volume":"80","author":"Subathra","year":"2016","journal-title":"Ann. Hum. Genet"},{"key":"10.1074\/jbc.RA117.000530_bib19","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1086\/301676","article-title":"Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment with aminoglycosides","volume":"62","author":"Estivill","year":"1998","journal-title":"Am. J. Hum. Genet"},{"key":"10.1074\/jbc.RA117.000530_bib20","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1016\/j.mito.2009.09.007","article-title":"Mitochondrial haplotypes may modulate the phenotypic manifestation of the deafness-associated 12S rRNA 1555A>G mutation","volume":"10","author":"Lu","year":"2010","journal-title":"Mitochondrion"},{"key":"10.1074\/jbc.RA117.000530_bib21","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1002\/ajmg.a.20305","article-title":"Cosegregation of C-insertion at position 961 with A1555G mutation of mitochondrial 12S rRNA gene in a large Chinese family with maternally inherited hearing loss","volume":"124","author":"Li","year":"2004","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1074\/jbc.RA117.000530_bib22","doi-asserted-by":"crossref","first-page":"1244","DOI":"10.1016\/j.bbrc.2005.01.085","article-title":"Extremely low penetrance of hearing loss in four Chinese families with the mitochondrial 12S rRNA A1555G mutation","volume":"328","author":"Young","year":"2005","journal-title":"Biochem. Biophys. Res. Commun"},{"key":"10.1074\/jbc.RA117.000530_bib23","doi-asserted-by":"crossref","first-page":"963","DOI":"10.1093\/hmg\/5.7.963","article-title":"Biochemical evidence for nuclear gene involvement in phenotype of non-syndromic deafness associated with mitochondrial 12S rRNA mutation","volume":"5","author":"Guan","year":"1996","journal-title":"Hum. Mol. Genet"},{"key":"10.1074\/jbc.RA117.000530_bib24","doi-asserted-by":"crossref","first-page":"1787","DOI":"10.1093\/hmg\/9.12.1787","article-title":"A biochemical basis for the inherited susceptibility to aminoglycoside ototoxicity","volume":"9","author":"Guan","year":"2000","journal-title":"Hum. Mol. Genet"},{"key":"10.1074\/jbc.RA117.000530_bib25","doi-asserted-by":"crossref","first-page":"573","DOI":"10.1093\/hmg\/10.6.573","article-title":"Nuclear background determines biochemical phenotype in the deafness-associated mitochondrial 12S rRNA mutation","volume":"10","author":"Guan","year":"2001","journal-title":"Hum. Mol. Genet"},{"key":"10.1074\/jbc.RA117.000530_bib26","doi-asserted-by":"crossref","first-page":"1132","DOI":"10.1093\/nar\/gki262","article-title":"Functional characterization of the mitochondrial 12S rRNA C1494T mutation associated with aminoglycoside-induced and non-syndromic hearing loss","volume":"33","author":"Zhao","year":"2005","journal-title":"Nucleic Acids Res"},{"key":"10.1074\/jbc.RA117.000530_bib27","doi-asserted-by":"crossref","first-page":"4612","DOI":"10.1128\/AAC.00965-08","article-title":"Interaction of aminoglycosides with human mitochondrial 12S rRNA carrying the deafness-associated mutation","volume":"53","author":"Qian","year":"2009","journal-title":"Antimicrob. Agents Chemother"},{"key":"10.1074\/jbc.RA117.000530_bib28","doi-asserted-by":"crossref","first-page":"27256","DOI":"10.1074\/jbc.M203267200","article-title":"Isolation and characterization of the putative nuclear modifier gene MTO1 involved in the pathogenesis of deafness-associated mitochondrial 12S rRNA A1555G mutation","volume":"277","author":"Li","year":"2002","journal-title":"J. Biol. Chem"},{"key":"10.1074\/jbc.RA117.000530_bib29","doi-asserted-by":"crossref","first-page":"7701","DOI":"10.1128\/MCB.22.21.7701-7711.2002","article-title":"A human mitochondrial GTP binding protein related to tRNA modification may modulate the phenotypic expression of the deafness-associated mitochondrial 12S rRNA mutation","volume":"22","author":"Li","year":"2002","journal-title":"Mol. Cell. Biol"},{"key":"10.1074\/jbc.RA117.000530_bib30","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1016\/j.ymgme.2004.07.009","article-title":"Phenotype of non-syndromic deafness associated with the mitochondrial A1555G mutation is modulated by mitochondrial RNA modifying enzymes MTO1 and GTPBP3","volume":"83","author":"Bykhovskaya","year":"2004","journal-title":"Mol. Genet. Metab"},{"key":"10.1074\/jbc.RA117.000530_bib31","doi-asserted-by":"crossref","first-page":"29151","DOI":"10.1074\/jbc.M504247200","article-title":"Mutations in MTO2 related to tRNA modification impair mitochondrial gene expression and protein synthesis in the presence of a paromomycin resistance mutation in mitochondrial 15S rRNA","volume":"280","author":"Yan","year":"2005","journal-title":"J. Biol. Chem"},{"key":"10.1074\/jbc.RA117.000530_bib32","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1086\/506389","article-title":"Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations","volume":"79","author":"Guan","year":"2006","journal-title":"Am. J. Hum. Genet"},{"key":"10.1074\/jbc.RA117.000530_bib33","doi-asserted-by":"crossref","first-page":"2881","DOI":"10.1074\/jbc.M116.749374","article-title":"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","volume":"292","author":"Meng","year":"2017","journal-title":"J. Biol. Chem"},{"key":"10.1074\/jbc.RA117.000530_bib34","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1002\/ajmg.a.30952","article-title":"Cosegregation of the G7444A mutation in the mitochondrial COI\/tRNASer(UCN) genes with the 12S rRNA A1555G mutation in a Chinese family with aminoglycoside-induced and non-syndromic hearing loss","volume":"138","author":"Yuan","year":"2005","journal-title":"Am. J. Med. Genet"},{"key":"10.1074\/jbc.RA117.000530_bib35","doi-asserted-by":"crossref","first-page":"2188","DOI":"10.1002\/ajmg.a.31434","article-title":"Variants in mitochondrial tRNAGlu, tRNAArg, and tRNAThr may influence the phenotypic manifestation of deafness-associated 12S rRNA A1555G mutation in three Han Chinese families with hearing loss","volume":"140","author":"Young","year":"2006","journal-title":"Am. J. Med. Genet"},{"key":"10.1074\/jbc.RA117.000530_bib36","first-page":"1059","article-title":"Mitochondrial tRNAThr G15927A mutation may modulate the phenotypic manifestation of ototoxic 12S rRNA A1555G mutation in four Chinese families. Pharmacogenet","volume":"18","author":"Wang","year":"2008","journal-title":"Genomics"},{"key":"10.1074\/jbc.RA117.000530_bib37","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1016\/j.mito.2015.05.001","article-title":"Mitochondrial tRNASer(UCN) variants in 2651 Han Chinese subjects with hearing loss","volume":"23","author":"Tang","year":"2015","journal-title":"Mitochondrion"},{"key":"10.1074\/jbc.RA117.000530_bib38","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1186\/1479-5876-9-4","article-title":"Frequency and spectrum of mitochondrial 12S rRNA variants in 440 Han Chinese subjects with aminoglycoside-induced and non-syndromic hearing loss","volume":"9","author":"Shen","year":"2011","journal-title":"J. Transl. Med"},{"key":"10.1074\/jbc.RA117.000530_bib39","doi-asserted-by":"crossref","first-page":"1356","DOI":"10.1007\/s00018-003-2343-1","article-title":"Human mitochondrial tRNAs in health and disease","volume":"60","author":"Florentz","year":"2003","journal-title":"Cell. Mol. Life Sci"},{"key":"10.1074\/jbc.RA117.000530_bib40","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1146\/annurev-genet-110410-132531","article-title":"Human mitochondrial tRNAs: biogenesis, function, structural aspects, and diseases","volume":"45","author":"Suzuki","year":"2011","journal-title":"Annu. Rev. Genet"},{"key":"10.1074\/jbc.RA117.000530_bib41","doi-asserted-by":"crossref","first-page":"16828","DOI":"10.1074\/jbc.M213216200","article-title":"Decreased CCA-addition in human mitochondrial tRNAs bearing a pathogenic A4317G or A10044G mutation","volume":"278","author":"Tomari","year":"2003","journal-title":"J. Biol. Chem"},{"key":"10.1074\/jbc.RA117.000530_bib42","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1093\/hmg\/7.3.347","article-title":"Isoleucylation properties of native human mitochondrial tRNAIle and tRNAIle transcripts. Implications for cardiomyopathy-related point mutations (4269, 4317) in the tRNAIle gene","volume":"7","author":"Degoul","year":"1998","journal-title":"Hum. Mol. Genet"},{"key":"10.1074\/jbc.RA117.000530_bib43","doi-asserted-by":"crossref","first-page":"1904","DOI":"10.1093\/nar\/gkg282","article-title":"Pathology-related substitutions in human mitochondrial tRNA(Ile) reduce precursor 3\u2032-end\u2013processing efficiency in vitro","volume":"31","author":"Levinger","year":"2003","journal-title":"Nucleic Acids Res"},{"key":"10.1074\/jbc.RA117.000530_bib44","doi-asserted-by":"crossref","first-page":"283","DOI":"10.4161\/rna.19025","article-title":"Pathogenesis-related mutations in the T-loops of human mitochondrial tRNAs affect 3\u2032-end\u2013processing and tRNA structure","volume":"9","author":"Levinger","year":"2012","journal-title":"RNA Biol"},{"key":"10.1074\/jbc.RA117.000530_bib45","doi-asserted-by":"crossref","first-page":"2076","DOI":"10.1093\/hmg\/ddl130","article-title":"Updating the East Asian mtDNA phylogeny: a prerequisite for the identification of pathogenic mutations","volume":"15","author":"Kong","year":"2006","journal-title":"Hum. Mol. Genet"},{"key":"10.1074\/jbc.RA117.000530_bib46","doi-asserted-by":"crossref","first-page":"D823","DOI":"10.1093\/nar\/gkl927","article-title":"An enhanced mitomap with a global mtDNA mutational phylogeny","volume":"35","author":"Ruiz-Pesini","year":"2007","journal-title":"Nucleic Acids Res"},{"key":"10.1074\/jbc.RA117.000530_bib47","doi-asserted-by":"crossref","first-page":"17557","DOI":"10.1074\/jbc.M701056200","article-title":"An assembled complex IV maintains the stability and activity of complex I in mammalian mitochondria","volume":"282","author":"Li","year":"2007","journal-title":"J. Biol. Chem"},{"key":"10.1074\/jbc.RA117.000530_bib48","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1016\/j.mito.2014.08.008","article-title":"Leber's hereditary optic neuropathy caused by the homoplasmic ND1 m.3635G>A mutation in nine Han Chinese families","volume":"18","author":"Zhang","year":"2014","journal-title":"Mitochondrion"},{"key":"10.1074\/jbc.RA117.000530_bib49","doi-asserted-by":"crossref","first-page":"584","DOI":"10.1093\/hmg\/ddv498","article-title":"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","volume":"25","author":"Jiang","year":"2016","journal-title":"Hum. Mol. Genet"},{"key":"10.1074\/jbc.RA117.000530_bib50","doi-asserted-by":"crossref","first-page":"144","DOI":"10.1038\/ng1095-144","article-title":"Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency","volume":"11","author":"Bourgeron","year":"1995","journal-title":"Nat. Genet"},{"key":"10.1074\/jbc.RA117.000530_bib51","doi-asserted-by":"crossref","first-page":"363","DOI":"10.1016\/j.mito.2004.07.003","article-title":"Respiratory chain enzyme analysis in muscle and liver","volume":"4","author":"Thorburn","year":"2004","journal-title":"Mitochondrion"},{"key":"10.1074\/jbc.RA117.000530_bib52","doi-asserted-by":"crossref","first-page":"5704","DOI":"10.1038\/s41598-017-05571-y","article-title":"A novel ADOA-associated OPA1 mutation alters the mitochondrial function, membrane potential, ROS production and apoptosis","volume":"7","author":"Zhang","year":"2017","journal-title":"Sci. Rep"},{"key":"10.1074\/jbc.RA117.000530_bib53","doi-asserted-by":"crossref","first-page":"862","DOI":"10.1007\/s13238-015-0175-z","article-title":"A peep into mitochondrial disorder: multifaceted from mitochondrial DNA mutations to nuclear gene modulation","volume":"6","author":"Chen","year":"2015","journal-title":"Protein Cell"},{"key":"10.1074\/jbc.RA117.000530_bib54","doi-asserted-by":"crossref","first-page":"19198","DOI":"10.1074\/jbc.M908734199","article-title":"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","volume":"275","author":"Chomyn","year":"2000","journal-title":"J. Biol. Chem"},{"key":"10.1074\/jbc.RA117.000530_bib55","doi-asserted-by":"crossref","first-page":"2872","DOI":"10.1128\/MCB.15.5.2872","article-title":"In vitro analysis of mutations causing myoclonus epilepsy with ragged-red fibers in the mitochondrial tRNALys gene: two genotypes produce similar phenotypes","volume":"15","author":"Masucci","year":"1995","journal-title":"Mol. Cell. Biol"},{"key":"10.1074\/jbc.RA117.000530_bib56","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1038\/ng0595-47","article-title":"MtDNA mutation in MERRF syndrome causes defective aminoacylation of tRNALys and premature translation termination","volume":"10","author":"Enriquez","year":"1995","journal-title":"Nat. Genet"},{"key":"10.1074\/jbc.RA117.000530_bib57","doi-asserted-by":"crossref","first-page":"359","DOI":"10.1146\/annurev.genet.39.110304.095751","article-title":"A mitochondrial paradigm of metabolic and degenerative diseases, aging, and cancer: a dawn for evolutionary medicine","volume":"39","author":"Wallace","year":"2005","journal-title":"Annu. Rev. Genet"},{"key":"10.1074\/jbc.RA117.000530_bib58","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1196\/annals.1293.025","article-title":"Molecular pathogenetic mechanism of maternally inherited deafness","volume":"1011","author":"Guan","year":"2004","journal-title":"Ann. N.Y. Acad. Sci"},{"key":"10.1074\/jbc.RA117.000530_bib59","doi-asserted-by":"crossref","first-page":"1920","DOI":"10.1128\/MCB.00199-16","article-title":"A hypertension-associated tRNAAla mutation alters tRNA metabolism and mitochondrial function","volume":"36","author":"Jiang","year":"2016","journal-title":"Mol. Cell. Biol"},{"key":"10.1074\/jbc.RA117.000530_bib60","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1016\/j.freeradbiomed.2015.05.039","article-title":"Oxidative stress in inherited mitochondrial diseases","volume":"88","author":"Hayashi","year":"2015","journal-title":"Free Radic. Biol. Med"},{"key":"10.1074\/jbc.RA117.000530_bib61","doi-asserted-by":"crossref","first-page":"158","DOI":"10.1016\/j.molcel.2012.09.025","article-title":"Physiological roles of mitochondrial reactive oxygen species","volume":"48","author":"Sena","year":"2012","journal-title":"Mol. Cell"},{"key":"10.1074\/jbc.RA117.000530_bib62","doi-asserted-by":"crossref","first-page":"716","DOI":"10.1016\/j.cell.2011.12.027","article-title":"Mitochondrial stress engages E2F1 apoptotic signaling to cause deafness","volume":"148","author":"Raimundo","year":"2012","journal-title":"Cell"},{"key":"10.1074\/jbc.RA117.000530_bib63","doi-asserted-by":"crossref","first-page":"967","DOI":"10.1093\/nar\/26.4.967","article-title":"Automating the identification of DNA variations using quality-based fluorescence re-sequencing: analysis of the human mitochondrial genome","volume":"26","author":"Rieder","year":"1998","journal-title":"Nucleic Acids Res"},{"key":"10.1074\/jbc.RA117.000530_bib64","doi-asserted-by":"crossref","first-page":"190","DOI":"10.1073\/pnas.70.1.190","article-title":"Release of infectious Epstein-Barr virus by transformed marmoset leukocytes","volume":"70","author":"Miller","year":"1973","journal-title":"Proc. Natl. Acad. Sci. U.S.A"},{"key":"10.1074\/jbc.RA117.000530_bib65","doi-asserted-by":"crossref","first-page":"10228","DOI":"10.1016\/S0021-9258(18)82194-9","article-title":"Post-transcriptional regulation of the steady-state levels of mitochondrial tRNAs in HeLa cells","volume":"268","author":"King","year":"1993","journal-title":"J. Biol. Chem"},{"key":"10.1074\/jbc.RA117.000530_bib66","doi-asserted-by":"crossref","first-page":"13934","DOI":"10.1074\/jbc.M117.787028","article-title":"A hypertension-associated mitochondrial DNA mutation alters the tertiary interaction and function of tRNALeu(UUR)","volume":"292","author":"Zhou","year":"2017","journal-title":"J. Biol. Chem"},{"key":"10.1074\/jbc.RA117.000530_bib67","doi-asserted-by":"crossref","first-page":"1425","DOI":"10.1074\/jbc.RA117.000317","article-title":"A hypertension-associated mitochondrial DNA mutation introduces an m1G37 modification into tRNAMet, altering its structure and function","volume":"293","author":"Zhou","year":"2018","journal-title":"J. Biol. Chem"},{"key":"10.1074\/jbc.RA117.000530_bib68","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1016\/S0076-6879(96)64019-1","article-title":"Analysis of aminoacylation of human mitochondrial tRNAs","volume":"264","author":"Enr\u00edquez","year":"1996","journal-title":"Methods Enzymol"},{"key":"10.1074\/jbc.RA117.000530_bib69","doi-asserted-by":"crossref","first-page":"1621","DOI":"10.1016\/j.freeradbiomed.2011.08.005","article-title":"Assessing bioenergetic function in response to oxidative stress by metabolic profiling","volume":"51","author":"Dranka","year":"2011","journal-title":"Free Radic. Biol. Med"}],"container-title":["Journal of Biological Chemistry"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0021925820390669?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0021925820390669?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1074\/jbc.RA117.000530","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,12,16]],"date-time":"2021-12-16T20:18:59Z","timestamp":1639685939000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0021925820390669"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,3]]},"references-count":69,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2018,3]]}},"alternative-id":["S0021925820390669"],"URL":"https:\/\/doi.org\/10.1074\/jbc.ra117.000530","relation":{},"ISSN":["0021-9258"],"issn-type":[{"value":"0021-9258","type":"print"}],"subject":[],"published":{"date-parts":[[2018,3]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Contribution of the tRNAIle 4317A\u2192G mutation to the phenotypic manifestation of the deafness-associated mitochondrial 12S rRNA 1555A\u2192G mutation","name":"articletitle","label":"Article Title"},{"value":"Journal of Biological Chemistry","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1074\/jbc.RA117.000530","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2018 by The American Society for Biochemistry and Molecular Biology, Inc.","name":"copyright","label":"Copyright"}]}}