{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,23]],"date-time":"2026-08-23T16:05:50Z","timestamp":1787501150879,"version":"build-2736575974"},"reference-count":64,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2022,7,1]],"date-time":"2022-07-01T00:00:00Z","timestamp":1656633600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2022,7,1]],"date-time":"2022-07-01T00:00:00Z","timestamp":1656633600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2022,5,23]],"date-time":"2022-05-23T00:00:00Z","timestamp":1653264000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100012166","name":"National Key Research and Development Program of China","doi-asserted-by":"publisher","award":["2021YFC2700902"],"award-info":[{"award-number":["2021YFC2700902"]}],"id":[{"id":"10.13039\/501100012166","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002855","name":"Ministry of Science and Technology of the People's Republic of China","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002855","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82171847"],"award-info":[{"award-number":["82171847"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["31970557"],"award-info":[{"award-number":["31970557"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["LGF21C060001"],"award-info":[{"award-number":["LGF21C060001"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Mitochondrion"],"published-print":{"date-parts":[[2022,7]]},"DOI":"10.1016\/j.mito.2022.05.003","type":"journal-article","created":{"date-parts":[[2022,5,24]],"date-time":"2022-05-24T12:13:05Z","timestamp":1653394385000},"page":"56-66","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":6,"special_numbering":"C","title":["Mitochondrial tRNA variants in 811 Chinese probands with Leber\u2019s hereditary optic neuropathy"],"prefix":"10.1016","volume":"65","author":[{"given":"Yanchun","family":"Ji","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juanjuan","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Min","family":"Liang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3025-6587","authenticated-orcid":false,"given":"Feilong","family":"Meng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Minglian","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jun Q.","family":"Mo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meng","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5067-6736","authenticated-orcid":false,"given":"Min-Xin","family":"Guan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.mito.2022.05.003_b0005","doi-asserted-by":"crossref","first-page":"339","DOI":"10.1007\/164_2017_2","article-title":"Leber Hereditary Optic Neuropathy: Exemplar of an mtDNA disease","volume":"240","author":"Wallace","year":"2017","journal-title":"Handb. Exp. Pharmacol."},{"key":"10.1016\/j.mito.2022.05.003_b0010","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1016\/j.preteyeres.2006.05.002","article-title":"Leber's hereditary optic neuropathy: a multifactorial disease","volume":"25","author":"Yen","year":"2006","journal-title":"Prog. Retin. Eye Res."},{"key":"10.1016\/j.mito.2022.05.003_b0015","doi-asserted-by":"crossref","first-page":"403","DOI":"10.1097\/ICU.0000000000000410","article-title":"eber hereditary optic neuropathy: bridging the translational gap","volume":"28","author":"Jurkute","year":"2017","journal-title":"Curr. Opin. Ophthalmol."},{"key":"10.1016\/j.mito.2022.05.003_b0020","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":"10.1016\/j.mito.2022.05.003_b0025","doi-asserted-by":"crossref","first-page":"1427","DOI":"10.1126\/science.3201231","article-title":"Mitochondrial DNA mutation associated with Leber\u2019s hereditary optic neuropathy","volume":"242","author":"Wallace","year":"1988","journal-title":"Science"},{"key":"10.1016\/j.mito.2022.05.003_b0030","first-page":"481","article-title":"Primary pathogenic mtDNA mutations in multigeneration pedigrees with leber hereditary optic neuropathy","volume":"59","author":"Mackey","year":"1996","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.mito.2022.05.003_b0035","doi-asserted-by":"crossref","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":"10.1016\/j.mito.2022.05.003_b0040","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1002\/humu.1380060405","article-title":"Phylogenetic analysis of Leber\u2019s hereditary optic neuropathy mitochondrial DNA's indicates multiple independent occurrences of the common mutations","volume":"6","author":"Brown","year":"1995","journal-title":"Hum Mut."},{"key":"10.1016\/j.mito.2022.05.003_b0045","doi-asserted-by":"crossref","first-page":"1321","DOI":"10.1167\/iovs.13-13011","article-title":"Frequency and spectrum of mitochondrial ND6 mutations in 1218 Han Chinese subjects with Leber's hereditary optic neuropathy","volume":"55","author":"Liang","year":"2014","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"10.1016\/j.mito.2022.05.003_b0050","doi-asserted-by":"crossref","first-page":"4778","DOI":"10.1167\/iovs.14-16158","article-title":"Prevalence of mitochondrial ND4 mutations in 1281 Han Chinese subjects with Leber's hereditary optic neuropathy","volume":"56","author":"Jiang","year":"2015","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"10.1016\/j.mito.2022.05.003_b0055","doi-asserted-by":"crossref","first-page":"2377","DOI":"10.1167\/iovs.16-19243","article-title":"Mitochondrial ND1 variants in 1281 Chinese subjects with Leber's hereditary optic neuropathy","volume":"57","author":"Ji","year":"2016","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"10.1016\/j.mito.2022.05.003_b0060","doi-asserted-by":"crossref","first-page":"13224","DOI":"10.1074\/jbc.RA120.014603","article-title":"Complex I mutations synergize to worsen the phenotypic expression of Leber's hereditary optic neuropathy","volume":"295","author":"Ji","year":"2020","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.mito.2022.05.003_b0065","doi-asserted-by":"crossref","first-page":"4586","DOI":"10.1167\/iovs.11-9109","article-title":"Leber's hereditary optic neuropathy is associated with the T3866C mutation in mitochondrial ND1 gene in three Han Chinese Families","volume":"53","author":"Zhou","year":"2012","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"10.1016\/j.mito.2022.05.003_b0070","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1016\/j.mito.2014.08.008","article-title":"Leber\u2019s hereditary optic neuropathy caused by the homoplasmic ND1 G3635A mutation in nine Han Chinese families","volume":"18","author":"Zhang","year":"2014","journal-title":"Mitochondrion"},{"key":"10.1016\/j.mito.2022.05.003_b0075","doi-asserted-by":"crossref","first-page":"1999","DOI":"10.1093\/hmg\/ddy107","article-title":"Leber's hereditary optic neuropathy (LHON)-associated ND5 12338T>C mutation altered the assembly and function of complex I, apoptosis and mitophagy","volume":"27","author":"Zhang","year":"2018","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.mito.2022.05.003_b0080","doi-asserted-by":"crossref","first-page":"475","DOI":"10.1167\/iovs.05-0665","article-title":"The novel A4435G mutation in the mitochondrial tRNAMet may modulate the phenotypic expression of the LHON-associated ND4 G11778A mutation","volume":"47","author":"Qu","year":"2006","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"10.1016\/j.mito.2022.05.003_b0085","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1016\/j.gene.2006.02.014","article-title":"The mitochondrial tRNAThr A15951G mutation may influence the phenotypic expression of the LHON-associated ND4 G11778A mutation in a Chinese family","volume":"376","author":"Li","year":"2006","journal-title":"Gene"},{"key":"10.1016\/j.mito.2022.05.003_b0090","doi-asserted-by":"crossref","first-page":"84","DOI":"10.1016\/j.mito.2017.12.003","article-title":"Leber's hereditary optic neuropathy caused by a mutation in mitochondrial tRNAThr in eight Chinese pedigrees","volume":"42","author":"Zhang","year":"2018","journal-title":"Mitochondrion"},{"issue":"1","key":"10.1016\/j.mito.2022.05.003_b0095","doi-asserted-by":"crossref","DOI":"10.1016\/j.jbc.2021.100816","article-title":"Mechanistic insights into mitochondrial tRNAAla 3'-end metabolism deficiency","volume":"297","author":"Ji","year":"2021","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.mito.2022.05.003_b0100","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":"10.1016\/j.mito.2022.05.003_b0105","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":"10.1016\/j.mito.2022.05.003_b0110","doi-asserted-by":"crossref","first-page":"98","DOI":"10.1038\/nrg3861","article-title":"Emerging roles of tRNA in adaptive translation, signalling dynamics and disease","volume":"16","author":"Kirchner","year":"2015","journal-title":"Nat. Rev. Genet."},{"key":"10.1016\/j.mito.2022.05.003_b0115","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1016\/j.mito.2020.03.005","article-title":"Mitochondrial tRNA mutations in 887 Chinese subjects with hearing loss","volume":"52","author":"Zheng","year":"2020","journal-title":"Mitochondrion"},{"key":"10.1016\/j.mito.2022.05.003_b0120","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":"10.1016\/j.mito.2022.05.003_b0125","doi-asserted-by":"crossref","first-page":"208","DOI":"10.1016\/j.mito.2016.08.008","article-title":"Mitochondrial tRNA mutations in 2070 Chinese Han subjects with hypertension","volume":"30","author":"Xue","year":"2016","journal-title":"Mitochondrion"},{"key":"10.1016\/j.mito.2022.05.003_b0130","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":"10.1016\/j.mito.2022.05.003_b0135","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":"10.1016\/j.mito.2022.05.003_b0140","doi-asserted-by":"crossref","first-page":"1072","DOI":"10.1002\/humu.20378","article-title":"Evidence for adaptive selection acting on the tRNA and rRNA genes of human mitochondrial DNA","volume":"27","author":"Ruiz-Pesini","year":"2006","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.mito.2022.05.003_b0145","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1093\/nar\/26.1.148","article-title":"Compilation of tRNA sequences and sequences of tRNA genes","volume":"26","author":"Sprinzl","year":"1998","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.mito.2022.05.003_b0150","doi-asserted-by":"crossref","first-page":"470","DOI":"10.1038\/290470a0","article-title":"tRNA punctuation model of RNA processing in human mitochondria","volume":"290","author":"Ojala","year":"1981","journal-title":"Nature"},{"key":"10.1016\/j.mito.2022.05.003_b0155","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":"10.1016\/j.mito.2022.05.003_b0160","doi-asserted-by":"crossref","first-page":"11113","DOI":"10.1093\/nar\/gkaa860","article-title":"Asymmetrical effects of deafness-associated mitochondrial DNA 7516delA mutation on the processing of RNAs in the H-strand and L-strand polycistronic transcripts","volume":"48","author":"Xiao","year":"2020","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.mito.2022.05.003_b0165","doi-asserted-by":"crossref","first-page":"2147","DOI":"10.1128\/MCB.01614-09","article-title":"Human mitochondrial leucyl-tRNA synthetase corrects mitochondrial dysfunctions due to the tRNALeu(UUR) A3243G mutation, associated with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like symptoms and diabetes","volume":"30","author":"Li","year":"2010","journal-title":"Mol. Cell. Biol."},{"key":"10.1016\/j.mito.2022.05.003_b0170","doi-asserted-by":"crossref","first-page":"1083","DOI":"10.1161\/HYPERTENSIONAHA.109.128702","article-title":"Mitochondrial transfer RNAMet 4435A>G mutation is associated with maternally inherited hypertension in a Chinese pedigree","volume":"53","author":"Liu","year":"2009","journal-title":"Hypertension"},{"key":"10.1016\/j.mito.2022.05.003_b0175","doi-asserted-by":"crossref","first-page":"1075","DOI":"10.1093\/nar\/gkaa1225","article-title":"A deafness-associated tRNA mutation caused pleiotropic effects on the m1G37 modification, processing, stability and aminoacylation of tRNAIle and mitochondrial translation","volume":"49","author":"Meng","year":"2021","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.mito.2022.05.003_b0180","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":"10.1016\/j.mito.2022.05.003_b0185","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":"10.1016\/j.mito.2022.05.003_b0190","doi-asserted-by":"crossref","first-page":"2177","DOI":"10.1261\/rna.029231.111","article-title":"Nucleotide modifications and tRNA anticodon-mRNA codon interactions on the ribosome","volume":"17","author":"Alln\u00e9r","year":"2011","journal-title":"RNA"},{"key":"10.1016\/j.mito.2022.05.003_b0195","doi-asserted-by":"crossref","first-page":"21029","DOI":"10.1074\/jbc.M116.739482","article-title":"A deafness- and diabetes-associated tRNA mutation causes deficient pseudouridinylation at position 55 in tRNAGlu and mitochondrial dysfunction","volume":"291","author":"Wang","year":"2016","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.mito.2022.05.003_b0200","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":"10.1016\/j.mito.2022.05.003_b0205","doi-asserted-by":"crossref","first-page":"19292","DOI":"10.1074\/jbc.RA119.010598","article-title":"Contribution of a mitochondrial tyrosyl-tRNA synthetase mutation to the phenotypic expression of the deafness-associated tRNASer(UCN) 7511A>G mutation","volume":"294","author":"Fan","year":"2019","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.mito.2022.05.003_b0210","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":"10.1016\/j.mito.2022.05.003_b0215","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1016\/j.mito.2015.01.004","article-title":"Maternally inherited diabetes is associated with a homoplasmic T10003C mutation in the mitochondrial tRNAGly gene","volume":"21","author":"Liu","year":"2015","journal-title":"Mitochondrion"},{"key":"10.1016\/j.mito.2022.05.003_b0220","doi-asserted-by":"crossref","first-page":"2056","DOI":"10.1093\/nar\/gky1241","article-title":"A coronary artery disease-associated tRNAThr mutation altered mitochondrial function, apoptosis and angiogenesis","volume":"47","author":"Jia","year":"2019","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.mito.2022.05.003_b0225","doi-asserted-by":"crossref","first-page":"865","DOI":"10.1007\/s11845-021-02656-6","article-title":"Mutational analysis of mitochondrial tRNA genes in 138 patients with Leber's hereditary optic neuropathy","volume":"191","author":"Shuai","year":"2022","journal-title":"Ir. J. Med. Sci."},{"key":"10.1016\/j.mito.2022.05.003_b0230","doi-asserted-by":"crossref","first-page":"1636","DOI":"10.1093\/nar\/26.7.1636","article-title":"The presence of modified nucleotides is required for cloverleaf folding of a human mitochondrial tRNA","volume":"26","author":"Helm","year":"1998","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.mito.2022.05.003_b0235","doi-asserted-by":"crossref","first-page":"4293","DOI":"10.1093\/nar\/gkl530","article-title":"Formation of the conserved pseudouridine at position 55 in archaeal tRNA","volume":"34","author":"Roovers","year":"2006","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.mito.2022.05.003_b0240","doi-asserted-by":"crossref","first-page":"940","DOI":"10.1016\/S0021-9258(17)49906-6","article-title":"Overexpression of mitochondrial histidyl-tRNA synthetase restores mitochondrial dysfunction caused by a deafness-associated tRNAHis mutation","volume":"295","author":"Gong","year":"2020","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.mito.2022.05.003_b0245","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1016\/B978-0-12-819975-6.00020-0","article-title":"Retina and melanopsin neurons","volume":"179","author":"La Morgia","year":"2021","journal-title":"Handb. Clin. Neurol."},{"key":"10.1016\/j.mito.2022.05.003_b0250","doi-asserted-by":"crossref","DOI":"10.1016\/j.jbc.2021.100437","article-title":"An animal model for mitochondrial tyrosyl-tRNA synthetase deficiency reveals links between oxidative phosphorylation and retinal function","volume":"296","author":"Jin","year":"2021","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.mito.2022.05.003_b0255","doi-asserted-by":"crossref","first-page":"558","DOI":"10.1016\/j.ophtha.2008.10.022","article-title":"Extremely low penetrance of Leber's hereditary optic neuropathy in 8 Han Chinese families carrying the ND4 G11778A mutation","volume":"116","author":"Qu","year":"2009","journal-title":"Ophthalmology"},{"key":"10.1016\/j.mito.2022.05.003_b0260","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1167\/iovs.62.9.38","article-title":"Assocation between Leber's Hereditary Optic Neuropathy and MT-ND1 3460G>A mutation-induced alterations in mitochondrial function, apoptosis, and mitophagy","volume":"62","author":"Zhang","year":"2021","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"10.1016\/j.mito.2022.05.003_b0265","doi-asserted-by":"crossref","first-page":"772","DOI":"10.1016\/j.mito.2013.05.002","article-title":"Mitochondrial haplotypes may modulate the phenotypic manifestation of the LHON-associated m.14484T>C (MT-ND6) mutation in Chinese families","volume":"13","author":"Zhang","year":"2013","journal-title":"Mitochondrion"},{"key":"10.1016\/j.mito.2022.05.003_b0270","doi-asserted-by":"crossref","first-page":"1515","DOI":"10.1093\/hmg\/ddy450","article-title":"Contribution of mitochondrial ND1 3394T>C mutation to the phenotypic manifestation of Leber's hereditary optic neuropathy","volume":"28","author":"Ji","year":"2019","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.mito.2022.05.003_b0275","doi-asserted-by":"crossref","first-page":"3613","DOI":"10.1093\/hmg\/ddw199","article-title":"Biochemical evidence for a mitochondrial genetic modifier in 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":"10.1016\/j.mito.2022.05.003_b0280","doi-asserted-by":"crossref","first-page":"4001","DOI":"10.1093\/hmg\/ddn303","article-title":"Mitochondrial DNA background modulates the assembly kinetics of OXPHOS complexes in a cellular model of mitochondrial disease","volume":"17","author":"Pello","year":"2008","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.mito.2022.05.003_b0285","doi-asserted-by":"crossref","first-page":"130","DOI":"10.1016\/j.mito.2017.07.004","article-title":"Incomplete penetrance in mitochondrial optic neuropathies","volume":"36","author":"Caporali","year":"2017","journal-title":"Mitochondrion"},{"key":"10.1016\/j.mito.2022.05.003_b0290","first-page":"1107","article-title":"Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484","volume":"60","author":"Torroni","year":"1997","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.mito.2022.05.003_b0295","doi-asserted-by":"crossref","first-page":"760","DOI":"10.1016\/j.ajhg.2008.11.002","article-title":"Mitochondrial DNA haplogroups M7b1'2 and M8a affect clinical expression of Leber hereditary optic neuropathy in Chinese families with the m.11778G\u2013>a mutation","volume":"83","author":"Ji","year":"2008","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.mito.2022.05.003_b0300","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\u2019s hereditary optic neuropathy-associated mitochondrial DNA mutation","volume":"25","author":"Jiang","year":"2016","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.mito.2022.05.003_b0305","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1167\/iovs.62.7.22","article-title":"Leber's hereditary optic neuropathy arising from the synergy between ND1 3635G>A mutation and mitochondrial YARS2 mutations","volume":"62","author":"Jin","year":"2021","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"10.1016\/j.mito.2022.05.003_b0310","doi-asserted-by":"crossref","first-page":"4935","DOI":"10.1172\/JCI134965","article-title":"PRICKLE3 linked to ATPase biogenesis manifested Leber's hereditary optic neuropathy","volume":"130","author":"Yu","year":"2020","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.mito.2022.05.003_b0315","doi-asserted-by":"crossref","DOI":"10.1016\/j.jbc.2021.100960","article-title":"Tissue-specific expression atlas of murine mitochondrial tRNAs","volume":"297","author":"He","year":"2021","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.mito.2022.05.003_b0320","doi-asserted-by":"crossref","first-page":"e221","DOI":"10.1371\/journal.pgen.0020221","article-title":"Tissue-specific differences in human transfer RNA expression","volume":"2","author":"Dittmar","year":"2006","journal-title":"PLoS Genet."}],"container-title":["Mitochondrion"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1567724922000447?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1567724922000447?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,5,15]],"date-time":"2026-05-15T04:57:08Z","timestamp":1778821028000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1567724922000447"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,7]]},"references-count":64,"alternative-id":["S1567724922000447"],"URL":"https:\/\/doi.org\/10.1016\/j.mito.2022.05.003","relation":{},"ISSN":["1567-7249"],"issn-type":[{"value":"1567-7249","type":"print"}],"subject":[],"published":{"date-parts":[[2022,7]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Mitochondrial tRNA variants in 811 Chinese probands with Leber\u2019s hereditary optic neuropathy","name":"articletitle","label":"Article Title"},{"value":"Mitochondrion","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.mito.2022.05.003","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2022 The Author(s). Published by Elsevier B.V.","name":"copyright","label":"Copyright"}]}}