{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,22]],"date-time":"2026-07-22T14:10:20Z","timestamp":1784729420005,"version":"3.55.0"},"reference-count":69,"publisher":"Oxford University Press (OUP)","issue":"14","license":[{"start":{"date-parts":[[2023,7,13]],"date-time":"2023-07-13T00:00:00Z","timestamp":1689206400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["20H00530"],"award-info":[{"award-number":["20H00530"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["21K11678"],"award-info":[{"award-number":["21K11678"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["22H03537"],"award-info":[{"award-number":["22H03537"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["21H04278"],"award-info":[{"award-number":["21H04278"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100009024","name":"ERATO","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100009024","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,8,11]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>The 3243A\u00a0&amp;gt;\u00a0G in mtDNA is a representative mutation in mitochondrial diseases. Mitochondrial protein synthesis is impaired due to decoding disorder caused by severe reduction of 5-taurinomethyluridine (\u03c4m5U) modification of the mutant mt-tRNALeu(UUR) bearing 3243A\u00a0&amp;gt;\u00a0G mutation. The 3243A\u00a0&amp;gt;\u00a0G heteroplasmy in peripheral blood reportedly decreases exponentially with age. Here, we found three cases with mild respiratory symptoms despite bearing high rate of 3243A\u00a0&amp;gt;\u00a0G mutation (&amp;gt;90%) in blood mtDNA. These patients had the 3290T\u00a0&amp;gt;\u00a0C haplotypic mutation in addition to 3243A\u00a0&amp;gt;\u00a0G pathogenic mutation in mt-tRNALeu(UUR) gene. We generated cybrid cells of these cases to examine the effects of the 3290T\u00a0&amp;gt;\u00a0C mutation on mitochondrial function and found that 3290T\u00a0&amp;gt;\u00a0C mutation improved mitochondrial translation, formation of respiratory chain complex, and oxygen consumption rate of pathogenic cells associated with 3243A\u00a0&amp;gt;\u00a0G mutation. We measured \u03c4m5U frequency of mt-tRNALeu(UUR) with 3243A\u00a0&amp;gt;\u00a0G mutation in the cybrids by a primer extension method assisted with chemical derivatization of \u03c4m5U, showing that hypomodification of \u03c4m5U was significantly restored by the 3290T\u00a0&amp;gt;\u00a0C haplotypic mutation. We concluded that the 3290T\u00a0&amp;gt;\u00a0C is a haplotypic mutation that suppresses respiratory deficiency of mitochondrial disease by restoring hypomodified \u03c4m5U in mt-tRNALeu(UUR) with 3243A\u00a0&amp;gt;\u00a0G mutation, implying a potential therapeutic measure for mitochondrial disease associated with pathogenic mutations in mt-tRNAs.<\/jats:p>","DOI":"10.1093\/nar\/gkad591","type":"journal-article","created":{"date-parts":[[2023,7,13]],"date-time":"2023-07-13T10:01:30Z","timestamp":1689242490000},"page":"7480-7495","source":"Crossref","is-referenced-by-count":12,"title":["Mitochondrial haplotype mutation alleviates respiratory defect of MELAS by restoring taurine modification in tRNA with 3243A\u00a0&amp;gt;\u00a0G mutation"],"prefix":"10.1093","volume":"51","author":[{"given":"Saori","family":"Ueda","sequence":"first","affiliation":[{"name":"Department of Clinical Chemistry and Laboratory Medicine, Graduate School of Medical Sciences, Kyushu University , 3-1-1 Maidashi, Higashi-ku, Fukuoka\u00a0812-8582, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mikako","family":"Yagi","sequence":"additional","affiliation":[{"name":"Department of Clinical Chemistry and Laboratory Medicine, Graduate School of Medical Sciences, Kyushu University , 3-1-1 Maidashi, Higashi-ku, Fukuoka\u00a0812-8582, Japan"},{"name":"Department of Health Sciences, Graduate School of Medical Sciences, Kyushu University , 3-1-1 Maidashi, Higashi-ku, Fukuoka 812-8582, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ena","family":"Tomoda","sequence":"additional","affiliation":[{"name":"Department of Chemistry and Biotechnology, Graduate School of Engineering, University of Tokyo , 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-8656, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5166-9036","authenticated-orcid":false,"given":"Shinya","family":"Matsumoto","sequence":"additional","affiliation":[{"name":"Department of Clinical Chemistry and Laboratory Medicine, Graduate School of Medical Sciences, Kyushu University , 3-1-1 Maidashi, Higashi-ku, Fukuoka\u00a0812-8582, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yasushi","family":"Ueyanagi","sequence":"additional","affiliation":[{"name":"Department of Clinical Chemistry and Laboratory Medicine, Graduate School of Medical Sciences, Kyushu University , 3-1-1 Maidashi, Higashi-ku, Fukuoka\u00a0812-8582, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yura","family":"Do","sequence":"additional","affiliation":[{"name":"Department of Clinical Chemistry and Laboratory Medicine, Graduate School of Medical Sciences, Kyushu University , 3-1-1 Maidashi, Higashi-ku, Fukuoka\u00a0812-8582, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daiki","family":"Setoyama","sequence":"additional","affiliation":[{"name":"Department of Clinical Chemistry and Laboratory Medicine, Graduate School of Medical Sciences, Kyushu University , 3-1-1 Maidashi, Higashi-ku, Fukuoka\u00a0812-8582, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuichi","family":"Matsushima","sequence":"additional","affiliation":[{"name":"Department of Clinical Chemistry and Laboratory Medicine, Graduate School of Medical Sciences, Kyushu University , 3-1-1 Maidashi, Higashi-ku, Fukuoka\u00a0812-8582, Japan"},{"name":"Department of Biological Sciences, Graduate School of Science, Osaka University , 1-1 Machikaneyama, Toyonaka 560-0043, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Asuteka","family":"Nagao","sequence":"additional","affiliation":[{"name":"Department of Chemistry and Biotechnology, Graduate School of Engineering, University of Tokyo , 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-8656, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9731-1731","authenticated-orcid":false,"given":"Tsutomu","family":"Suzuki","sequence":"additional","affiliation":[{"name":"Department of Chemistry and Biotechnology, Graduate School of Engineering, University of Tokyo , 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-8656, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomomi","family":"Ide","sequence":"additional","affiliation":[{"name":"Department of Cardiovascular Medicine, Graduate School of Medical Sciences, Kyushu University , 3-1-1 Maidashi, Higashi-ku, Fukuoka 812-8582, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yusuke","family":"Mori","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine Kitakyushu City Yahata Hospital , 2-6-2 Ogura, Yahatahigashi-ku, Kitakyushu 805-8534, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Noriko","family":"Oyama","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism, Fukuoka Children's Hospital , 5-1-1 Kashiiteriha, Higashi-ku, Fukuoka 813-0017, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dongchon","family":"Kang","sequence":"additional","affiliation":[{"name":"Department of Clinical Chemistry and Laboratory Medicine, Graduate School of Medical Sciences, Kyushu University , 3-1-1 Maidashi, Higashi-ku, Fukuoka\u00a0812-8582, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3665-233X","authenticated-orcid":false,"given":"Takeshi","family":"Uchiumi","sequence":"additional","affiliation":[{"name":"Department of Clinical Chemistry and Laboratory Medicine, Graduate School of Medical Sciences, Kyushu University , 3-1-1 Maidashi, Higashi-ku, Fukuoka\u00a0812-8582, Japan"},{"name":"Department of Health Sciences, Graduate School of Medical Sciences, Kyushu University , 3-1-1 Maidashi, Higashi-ku, Fukuoka 812-8582, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2023,7,13]]},"reference":[{"key":"2023081100530942100_B1","doi-asserted-by":"crossref","first-page":"651","DOI":"10.1038\/348651a0","article-title":"A mutation in the tRNALeu (UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies","volume":"348","author":"Goto","year":"1990","journal-title":"Nature"},{"key":"2023081100530942100_B2","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1016\/j.diabres.2003.10.024","article-title":"Lipoma and opthalmoplegia in mitochondrial diabetes associated with small heteroplasmy level of 3243 tRNALeu (UUR) mutation","volume":"63","author":"Suzuki","year":"2004","journal-title":"Diabetes Res. Clin. Pract."},{"key":"2023081100530942100_B3","doi-asserted-by":"crossref","first-page":"130","DOI":"10.1253\/jcj.63.130","article-title":"Rapid progression of cardiomyopathy in mitochondrial diabetes","volume":"63","author":"Momiyama","year":"1999","journal-title":"Jpn. Circ. J."},{"key":"2023081100530942100_B4","doi-asserted-by":"crossref","first-page":"619","DOI":"10.1016\/j.bbagen.2011.03.015","article-title":"MELAS: a nationwide prospective cohort study of 96 patients in Japan","volume":"1820","author":"Yatsuga","year":"2012","journal-title":"Biochim. Biophys. Acta, Gen. Subj."},{"key":"2023081100530942100_B5","doi-asserted-by":"crossref","first-page":"e136055","DOI":"10.1172\/JCI136055","article-title":"Circulating markers of NADH-reductive stress correlate with mitochondrial disease severity","volume":"131","author":"Sharma","year":"2021","journal-title":"J. Clin. Invest."},{"key":"2023081100530942100_B6","doi-asserted-by":"crossref","first-page":"15070","DOI":"10.1073\/pnas.0405173101","article-title":"Codon-specific translational defect caused by a wobble modification deficiency in mutant tRNA from a human mitochondrial disease","volume":"101","author":"Kirino","year":"2004","journal-title":"Proc. Natl. Acad. Sci. U.S.A."},{"key":"2023081100530942100_B7","doi-asserted-by":"crossref","first-page":"4251","DOI":"10.1074\/jbc.275.6.4251","article-title":"Modification defect at anticodon wobble nucleotide of mitochondrial tRNAsLeu (UUR) with pathogenic mutations of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes","volume":"275","author":"Yasukawa","year":"2000","journal-title":"J. Biol. Chem."},{"key":"2023081100530942100_B8","doi-asserted-by":"crossref","first-page":"749","DOI":"10.1002\/ana.410240609","article-title":"Muscle pathology in complex I (NADH CoQ reductase) deficiency","volume":"24","author":"Koga","year":"1988","journal-title":"Ann. Neurol."},{"key":"2023081100530942100_B9","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":"2023081100530942100_B10","doi-asserted-by":"crossref","first-page":"236","DOI":"10.1038\/351236a0","article-title":"Impairment of mitochondrial transcription termination by a point mutation associated with the MELAS subgroup of mitochondrial encephalomyopathies","volume":"351","author":"Hess","year":"1991","journal-title":"Nature"},{"key":"2023081100530942100_B11","doi-asserted-by":"crossref","first-page":"27189","DOI":"10.1074\/jbc.272.43.27189","article-title":"Pathophysiology of the MELAS 3243 transition mutation","volume":"272","author":"Flierl","year":"1997","journal-title":"J. Biol. Chem."},{"key":"2023081100530942100_B12","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1093\/hmg\/5.1.123","article-title":"Complex I deficiency is associated with 3243G: c mitochondrial DNA in osteosarcoma cell cybrids","volume":"5","author":"Dunbar","year":"1996","journal-title":"Hum. Mol. Genet."},{"key":"2023081100530942100_B13","doi-asserted-by":"crossref","first-page":"4221","DOI":"10.1073\/pnas.89.10.4221","article-title":"MELAS mutation in mtDNA binding site for transcription termination factor causes defects in protein synthesis and in respiration but no change in levels of upstream and downstream mature transcripts","volume":"89","author":"Chomyn","year":"1992","journal-title":"Proc. Natl. Acad. Sci. U.S.A."},{"key":"2023081100530942100_B14","doi-asserted-by":"crossref","first-page":"1049","DOI":"10.1006\/bbrc.1993.2584","article-title":"Accumulation of mtDNA with a mutation at position 3271 in tRNALeu (UUR) gene introduced from a MELAS patient to HeLa cells lacking mtDNA results in progressive inhibition of mitochondrial respiratory function","volume":"197","author":"Hayashi","year":"1993","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"2023081100530942100_B15","doi-asserted-by":"crossref","first-page":"3697","DOI":"10.1093\/hmg\/ddn265","article-title":"The A3243G tRNALeu (UUR) MELAS mutation causes amino acid misincorporation and a combined respiratory chain assembly defect partially suppressed by overexpression of EFTu and EFG2","volume":"17","author":"Sasarman","year":"2008","journal-title":"Hum. Mol. Genet."},{"key":"2023081100530942100_B16","doi-asserted-by":"crossref","first-page":"7127","DOI":"10.1073\/pnas.0500563102","article-title":"Specific correlation between the wobble modification deficiency in mutant tRNAs and the clinical features of a human mitochondrial disease","volume":"102","author":"Kirino","year":"2005","journal-title":"Proc. Natl. Acad. Sci. U.S.A."},{"key":"2023081100530942100_B17","doi-asserted-by":"crossref","first-page":"1565","DOI":"10.1093\/nar\/gky068","article-title":"Metabolic and chemical regulation of tRNA modification associated with taurine deficiency and human disease","volume":"46","author":"Asano","year":"2018","journal-title":"Nucleic. Acids. Res."},{"key":"2023081100530942100_B18","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 phenotypic expression of the deafness-associated mitochondrial 12S rRNA mutation","volume":"22","author":"Li","year":"2002","journal-title":"Mol. Cell. Biol."},{"key":"2023081100530942100_B19","doi-asserted-by":"crossref","first-page":"713","DOI":"10.1016\/j.str.2009.03.013","article-title":"Conserved cysteine residues of GidA are essential for biogenesis of 5-carboxymethylaminomethyluridine at tRNA anticodon","volume":"17","author":"Osawa","year":"2009","journal-title":"Structure"},{"key":"2023081100530942100_B20","doi-asserted-by":"crossref","first-page":"532","DOI":"10.1016\/j.jmb.2008.04.072","article-title":"Crystal structures of the conserved tRNA-modifying enzyme GidA: implications for its interaction with MnmE and substrate","volume":"380","author":"Meyer","year":"2008","journal-title":"J. Mol. Biol."},{"key":"2023081100530942100_B21","doi-asserted-by":"crossref","first-page":"1613","DOI":"10.1074\/jbc.M409306200","article-title":"Mitochondria-specific RNA-modifying enzymes responsible for the biosynthesis of the wobble base in mitochondrial tRNAs: implications for the molecular pathogenesis of human mitochondrial diseases","volume":"280","author":"Umeda","year":"2005","journal-title":"J. Biol. Chem."},{"key":"2023081100530942100_B22","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":"2023081100530942100_B23","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1016\/j.ajhg.2007.10.007","article-title":"Selection against pathogenic mtDNA mutations in a stem cell population leads to the loss of the 3243A\u2192 G mutation in blood","volume":"82","author":"Rajasimha","year":"2008","journal-title":"Am. J. Hum. Genet."},{"key":"2023081100530942100_B24","doi-asserted-by":"crossref","first-page":"1713","DOI":"10.1093\/brain\/120.10.1713","article-title":"Molecular pathology of MELAS and MERRF. The relationship between mutation load and clinical phenotypes","volume":"120","author":"Chinnery","year":"1997","journal-title":"Brain"},{"key":"2023081100530942100_B25","doi-asserted-by":"crossref","first-page":"721","DOI":"10.1093\/brain\/118.3.721","article-title":"The mitochondrial DNA transfer RNA leu (UUR) A\u2192 G (3243) mutation: a clinical and genetic study","volume":"118","author":"Hammans","year":"1995","journal-title":"Brain"},{"key":"2023081100530942100_B26","doi-asserted-by":"crossref","first-page":"116562","DOI":"10.1016\/j.jns.2019.116562","article-title":"Heteroplasmy and phenotype spectrum of the mitochondrial tRNALeu (UUR) gene m. 3243A&gt;G mutation in seven Han Chinese families","volume":"408","author":"Liu","year":"2020","journal-title":"J. Neurol. Sci."},{"key":"2023081100530942100_B27","first-page":"334","volume-title":"Methods Enzymol","author":"Chomyn","year":"1996"},{"key":"2023081100530942100_B28","doi-asserted-by":"crossref","first-page":"9717","DOI":"10.1093\/nar\/gks774","article-title":"p32\/gC1qR is indispensable for fetal development and mitochondrial translation: importance of its RNA-binding ability","volume":"40","author":"Yagi","year":"2012","journal-title":"Nucleic Acids Res."},{"key":"2023081100530942100_B29","doi-asserted-by":"crossref","first-page":"e105268","DOI":"10.15252\/embj.2020105268","article-title":"Mitochondrial translation deficiency impairs NAD+-mediated lysosomal acidification","volume":"40","author":"Yagi","year":"2021","journal-title":"EMBO J."},{"key":"2023081100530942100_B30","doi-asserted-by":"crossref","first-page":"1173","DOI":"10.1093\/cvr\/cvx095","article-title":"Cardiomyocyte-specific loss of mitochondrial p32\/C1qbp causes cardiomyopathy and activates stress responses","volume":"113","author":"Saito","year":"2017","journal-title":"Cardiovasc. Res."},{"key":"2023081100530942100_B31","doi-asserted-by":"crossref","DOI":"10.1093\/nar\/gkad139","article-title":"Restoration of mitochondrial function through activation of hypomodified tRNAs with pathogenic mutations associated with mitochondrial diseases","author":"Tomoda","year":"2023","journal-title":"Nucleic Acids Res."},{"key":"2023081100530942100_B32","doi-asserted-by":"crossref","first-page":"4269","DOI":"10.1038\/s41467-020-18068-6","article-title":"Complete chemical structures of human mitochondrial tRNAs","volume":"11","author":"Suzuki","year":"2020","journal-title":"Nat. Commun."},{"key":"2023081100530942100_B33","doi-asserted-by":"crossref","first-page":"1875","DOI":"10.1038\/s41467-018-04250-4","article-title":"CO2-sensitive tRNA modification associated with human mitochondrial disease","volume":"9","author":"Lin","year":"2018","journal-title":"Nat. Commun."},{"key":"2023081100530942100_B34","doi-asserted-by":"crossref","first-page":"1685","DOI":"10.1261\/rna.061069.117","article-title":"Insights into substrate promiscuity of human seryl-tRNA synthetase","volume":"23","author":"Holman","year":"2017","journal-title":"RNA"},{"key":"2023081100530942100_B35","doi-asserted-by":"crossref","first-page":"24712","DOI":"10.1016\/S0021-9258(18)54288-5","article-title":"Direct analysis of aminoacylation levels of tRNAs in vivo. Application to studying recognition of Escherichia coli initiator tRNA mutants by glutaminyl-tRNA synthetase","volume":"266","author":"Varshney","year":"1991","journal-title":"J. Biol. Chem."},{"key":"2023081100530942100_B36","doi-asserted-by":"crossref","first-page":"16209","DOI":"10.1073\/pnas.0907602106","article-title":"Biogenesis of glutaminyl-mt tRNAGln in human mitochondria","volume":"106","author":"Nagao","year":"2009","journal-title":"Proc. Natl. Acad. Sci. U.S.A."},{"key":"2023081100530942100_B37","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1002\/jcsm.12889","article-title":"Immunometabolic signatures predict recovery from thyrotoxic myopathy in patients with Graves' disease","volume":"13","author":"Setoyama","year":"2022","journal-title":"J. Cachexia Sarcopenia Muscle"},{"key":"2023081100530942100_B38","doi-asserted-by":"crossref","first-page":"595","DOI":"10.1016\/j.bbalip.2013.11.014","article-title":"MAM (mitochondria-associated membranes) in mammalian cells: lipids and beyond","volume":"1841","author":"Vance","year":"2014","journal-title":"Biochim. Biophys. Acta"},{"key":"2023081100530942100_B39","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1111\/nyas.14212","article-title":"Endoplasmic reticulum-mitochondria crosstalk: from junction to function across neurological disorders","volume":"1457","author":"Veeresh","year":"2019","journal-title":"Ann. N. Y. Acad. Sci."},{"key":"2023081100530942100_B40","doi-asserted-by":"crossref","first-page":"10190","DOI":"10.1073\/pnas.1107402108","article-title":"Tubular network formation protects mitochondria from autophagosomal degradation during nutrient starvation","volume":"108","author":"Rambold","year":"2011","journal-title":"Proc. Natl. Acad. Sci. U.S.A."},{"key":"2023081100530942100_B41","doi-asserted-by":"crossref","first-page":"617","DOI":"10.3389\/fcell.2020.00617","article-title":"Using expansion microscopy to visualize and characterize the morphology of mitochondrial cristae","volume":"8","author":"Kunz","year":"2020","journal-title":"Front. Cell Dev. Biol."},{"key":"2023081100530942100_B42","doi-asserted-by":"crossref","first-page":"7123","DOI":"10.3390\/ijms22137123","article-title":"DRP1 Inhibition rescues mitochondrial integrity and excessive apoptosis in CS-A disease cell models","volume":"22","author":"Pascucci","year":"2021","journal-title":"Int. J. Mol. Sci."},{"key":"2023081100530942100_B43","doi-asserted-by":"crossref","first-page":"6263","DOI":"10.3390\/ijms22126263","article-title":"Quantifying mitochondrial dynamics in patient fibroblasts with multiple developmental defects and mitochondrial disorders","volume":"22","author":"Bakare","year":"2021","journal-title":"Int. J. Mol. Sci."},{"key":"2023081100530942100_B44","doi-asserted-by":"crossref","first-page":"97","DOI":"10.2174\/2213235X04666160613122429","article-title":"PCA as a practical indicator of OPLS-DA model reliability","volume":"4","author":"Worley","year":"2016","journal-title":"Curr. Metabolomics"},{"key":"2023081100530942100_B45","doi-asserted-by":"crossref","first-page":"2394","DOI":"10.1002\/bit.26003","article-title":"Biomass estimation in Pichia pastoris cultures by combined single-wavelength fluorescence measurements","volume":"113","author":"Brunner","year":"2016","journal-title":"Biotechnol. Bioeng."},{"key":"2023081100530942100_B46","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1016\/j.cca.2009.09.023","article-title":"Genetic variants in mitochondrial tRNA genes are associated with essential hypertension in a Chinese Han population","volume":"410","author":"Zhu","year":"2009","journal-title":"Clin. Chim. Acta"},{"key":"2023081100530942100_B47","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1007\/BF00919602","article-title":"Recurrent respiratory failure in a patient with 3243 mutation in mitochondrial DNA","volume":"242","author":"Kamakura","year":"1995","journal-title":"J. Neurol."},{"key":"2023081100530942100_B48","doi-asserted-by":"crossref","first-page":"780","DOI":"10.3389\/fneur.2019.00780","article-title":"Acute respiratory failure is the initial manifestation in the adult-onset A3243G tRNALeu mtDNA mutation: a case report and the literature review","volume":"10","author":"Pan","year":"2019","journal-title":"Front. Neurol."},{"key":"2023081100530942100_B49","first-page":"715","article-title":"Mitochondrial myopathy with predominant respiratory dysfunction in a patient with A3243G mutation in the mitochondrial tRNA (Leu (UUR)) gene","volume":"97","author":"Yang","year":"1998","journal-title":"J. Formos. Med. Assoc."},{"key":"2023081100530942100_B50","first-page":"137","article-title":"Respiratory insufficiency in a Chinese adult with mitochondrial myopathy","volume":"8","author":"Chang","year":"2002","journal-title":"Hong Kong Med. J."},{"key":"2023081100530942100_B51","first-page":"467","article-title":"Fulminant respiratory muscle paralysis, an expanding clinical spectrum of mitochondrial A3243G tRNALeu mutation","volume":"97","author":"Amornvit","year":"2014","journal-title":"J. Med. Assoc. Thai."},{"key":"2023081100530942100_B52","doi-asserted-by":"crossref","first-page":"350","DOI":"10.1038\/ng0498-350","article-title":"A tRNA suppressor mutation in human mitochondria","volume":"18","author":"El\u00a0Meziane","year":"1998","journal-title":"Nat. Genet."},{"key":"2023081100530942100_B53","doi-asserted-by":"crossref","first-page":"897","DOI":"10.1093\/hmg\/ddl007","article-title":"Acquisition of the wobble modification in mitochondrial tRNALeu(CUN) bearing the G12300A mutation suppresses the MELAS molecular defect","volume":"15","author":"Kirino","year":"2006","journal-title":"Hum. Mol. Genet."},{"key":"2023081100530942100_B54","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1042\/EBC20170098","article-title":"Assembly of mammalian oxidative phosphorylation complexes I\u2013V and supercomplexes","volume":"62","author":"Signes","year":"2018","journal-title":"Essays Biochem."},{"key":"2023081100530942100_B55","doi-asserted-by":"crossref","first-page":"190","DOI":"10.1016\/0925-4439(95)00087-9","article-title":"Assembly of mitochondrial ATP synthase in cultured human cells: implications for mitochondrial diseases","volume":"1272","author":"Nijtmans","year":"1995","journal-title":"Biochim. Biophys. Acta Mol. Basis Dis."},{"key":"2023081100530942100_B56","doi-asserted-by":"crossref","first-page":"1004","DOI":"10.1016\/j.bbabio.2010.02.021","article-title":"Assembly and oligomerization of human ATP synthase lacking mitochondrial subunits a and A6L","volume":"1797","author":"Wittig","year":"2010","journal-title":"Biochim. Biophys. Acta Bioenerg."},{"key":"2023081100530942100_B57","doi-asserted-by":"crossref","first-page":"5769","DOI":"10.1016\/j.febslet.2005.09.065","article-title":"Structure of dimeric ATP synthase from mitochondria: an angular association of monomers induces the strong curvature of the inner membrane","volume":"579","author":"Dudkina","year":"2005","journal-title":"FEBS Lett."},{"key":"2023081100530942100_B58","doi-asserted-by":"crossref","first-page":"13602","DOI":"10.1073\/pnas.1204593109","article-title":"Structure of the yeast F1Fo-ATP synthase dimer and its role in shaping the mitochondrial cristae","volume":"109","author":"Davies","year":"2012","journal-title":"Proc. Natl. Acad. Sci. U.S.A."},{"key":"2023081100530942100_B59","doi-asserted-by":"crossref","first-page":"3409","DOI":"10.1073\/pnas.1702357114","article-title":"Persistence of the mitochondrial permeability transition in the absence of subunit c of human ATP synthase","volume":"114","author":"He","year":"2017","journal-title":"Proc. Natl. Acad. Sci. U.S.A."},{"key":"2023081100530942100_B60","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1093\/emboj\/21.3.221","article-title":"The ATP synthase is involved in generating mitochondrial cristae morphology","volume":"21","author":"Paumard","year":"2002","journal-title":"EMBO J."},{"key":"2023081100530942100_B61","doi-asserted-by":"crossref","first-page":"29744","DOI":"10.1074\/jbc.274.42.29744","article-title":"The diabetes-associated 3243 mutation in the mitochondrial tRNALeu (UUR) gene causes severe mitochondrial dysfunction without a strong decrease in protein synthesis rate","volume":"274","author":"Janssen","year":"1999","journal-title":"J. Biol. Chem."},{"key":"2023081100530942100_B62","doi-asserted-by":"crossref","first-page":"1356","DOI":"10.1017\/S1355838200001047","article-title":"Search for characteristic structural features of mammalian mitochondrial tRNAs","volume":"6","author":"HELM","year":"2000","journal-title":"RNA"},{"key":"2023081100530942100_B63","doi-asserted-by":"crossref","first-page":"995","DOI":"10.1016\/S0022-2836(03)00373-5","article-title":"Towards understanding human mitochondrial leucine aminoacylation identity","volume":"328","author":"Sohm","year":"2003","journal-title":"J. Mol. Biol."},{"key":"2023081100530942100_B64","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1016\/j.mito.2017.05.012","article-title":"Metabolomics of mitochondrial disease","volume":"35","author":"Esterhuizen","year":"2017","journal-title":"Mitochondrion"},{"key":"2023081100530942100_B65","doi-asserted-by":"crossref","first-page":"2560","DOI":"10.1016\/S0140-6736(18)30727-X","article-title":"Mitochondrial medicine in the omics era","volume":"391","author":"Rahman","year":"2018","journal-title":"Lancet North Am. Ed."},{"key":"2023081100530942100_B66","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1385\/JMN:21:1:57","article-title":"Plasma levels of nitric oxide and L-arginine in sleep apnea patients","volume":"21","author":"Lavie","year":"2003","journal-title":"J. Mol. Neurosci."},{"key":"2023081100530942100_B67","doi-asserted-by":"crossref","first-page":"1467","DOI":"10.1007\/s00109-020-01967-y","article-title":"Expanding and validating the biomarkers for mitochondrial diseases","volume":"98","author":"Maresca","year":"2020","journal-title":"J. Mol. Med."},{"key":"2023081100530942100_B68","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1016\/j.mito.2014.10.006","article-title":"GDF15 is a novel biomarker to evaluate efficacy of pyruvate therapy for mitochondrial diseases","volume":"20","author":"Fujita","year":"2015","journal-title":"Mitochondrion"},{"key":"2023081100530942100_B69","doi-asserted-by":"crossref","first-page":"814","DOI":"10.1002\/ana.24506","article-title":"Growth differentiation factor 15 as a useful biomarker for mitochondrial disorders","volume":"78","author":"Yatsuga","year":"2015","journal-title":"Ann. Neurol."}],"container-title":["Nucleic Acids Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/nar\/article-pdf\/51\/14\/7480\/51073182\/gkad591.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/nar\/article-pdf\/51\/14\/7480\/51073182\/gkad591.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,11]],"date-time":"2023-08-11T00:53:55Z","timestamp":1691715235000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/nar\/article\/51\/14\/7480\/7223583"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,7,13]]},"references-count":69,"journal-issue":{"issue":"14","published-online":{"date-parts":[[2023,7,13]]},"published-print":{"date-parts":[[2023,8,11]]}},"URL":"https:\/\/doi.org\/10.1093\/nar\/gkad591","relation":{},"ISSN":["0305-1048","1362-4962"],"issn-type":[{"value":"0305-1048","type":"print"},{"value":"1362-4962","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2023,8,11]]},"published":{"date-parts":[[2023,7,13]]}}}