{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T19:07:07Z","timestamp":1791140827500,"version":"4.1.0"},"reference-count":29,"publisher":"Springer Science and Business Media LLC","issue":"10","license":[{"start":{"date-parts":[[2008,4,9]],"date-time":"2008-04-09T00:00:00Z","timestamp":1207699200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Eur J Hum Genet"],"published-print":{"date-parts":[[2008,10]]},"DOI":"10.1038\/ejhg.2008.65","type":"journal-article","created":{"date-parts":[[2008,4,9]],"date-time":"2008-04-09T10:40:02Z","timestamp":1207737602000},"page":"1265-1274","source":"Crossref","is-referenced-by-count":33,"title":["A homoplasmic mtDNA variant can influence the phenotype of the pathogenic m.7472Cins MTTS1 mutation: are two mutations better than one?"],"prefix":"10.1038","volume":"16","author":[{"given":"Helen","family":"Swalwell","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emma L","family":"Blakely","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ruth","family":"Sutton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kasia","family":"Tonska","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthias","family":"Elstner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Langping","family":"He","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tanja","family":"Taivassalo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dennis K","family":"Burns","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Douglass M","family":"Turnbull","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ronald G","family":"Haller","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mercy M","family":"Davidson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert W","family":"Taylor","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2008,4,9]]},"reference":[{"key":"BFejhg200865_CR1","doi-asserted-by":"publisher","first-page":"18","DOI":"10.1002\/ajmg.1392","volume":"106","author":"S DiMauro","year":"2001","unstructured":"DiMauro S, Schon EA : Mitochondrial DNA mutations in human disease. Am J Med Genet 2001; 106: 18\u201326.","journal-title":"Am J Med Genet"},{"key":"BFejhg200865_CR2","doi-asserted-by":"publisher","first-page":"389","DOI":"10.1038\/nrg1606","volume":"6","author":"RW Taylor","year":"2005","unstructured":"Taylor RW, Turnbull DM : Mitochondrial DNA mutations in human disease. Nat Rev Genet 2005; 6: 389\u2013402.","journal-title":"Nat Rev Genet"},{"key":"BFejhg200865_CR3","doi-asserted-by":"publisher","first-page":"130","DOI":"10.1007\/s00439-001-0660-8","volume":"110","author":"MD Brown","year":"2002","unstructured":"Brown MD, Starikovskaya E, Derbeneva O et al: The role of mtDNA background in disease expression: a new primary LHON mutation associated with Western Eurasian haplogroup J. Hum Genet 2002; 110: 130\u2013138.","journal-title":"Hum Genet"},{"key":"BFejhg200865_CR4","doi-asserted-by":"publisher","first-page":"475","DOI":"10.1167\/iovs.05-0665","volume":"47","author":"J Qu","year":"2006","unstructured":"Qu J, Li R, Zhou X et al: The novel A4435G mutation in the mitochondrial tRNAMet may modulate the phenotypic expression of the LHON-associated ND4 G11778A mutation. Invest Ophthalmol Vis Sci 2006; 47: 475\u2013483.","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"BFejhg200865_CR5","doi-asserted-by":"publisher","first-page":"243","DOI":"10.1002\/humu.1380030311","volume":"3","author":"FM Reid","year":"1994","unstructured":"Reid FM, Vernham GA, Jacobs HT : A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness. Hum Mutat 1994; 3: 243\u2013247.","journal-title":"Hum Mutat"},{"key":"BFejhg200865_CR6","doi-asserted-by":"publisher","first-page":"692","DOI":"10.1136\/jmg.37.9.692","volume":"37","author":"TP Hutchin","year":"2000","unstructured":"Hutchin TP, Parker MJ, Young ID et al: A novel mutation in the mitochondrial tRNASer(UCN) gene in a family with non-syndromic sensorineural hearing impairment. J Med Genet 2000; 37: 692\u2013694.","journal-title":"J Med Genet"},{"key":"BFejhg200865_CR7","doi-asserted-by":"publisher","first-page":"1905","DOI":"10.1212\/WNL.52.9.1905","volume":"52","author":"CM Sue","year":"1999","unstructured":"Sue CM, Tanji K, Hadjigeorgiou G et al: Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNASer(UCN) gene. Neurology 1999; 52: 1905\u20131908.","journal-title":"Neurology"},{"key":"BFejhg200865_CR8","doi-asserted-by":"publisher","first-page":"45","DOI":"10.1038\/sj.ejhg.5200247","volume":"7","author":"K Verhoeven","year":"1999","unstructured":"Verhoeven K, Ensink RJ, Tiranti V et al: Hearing impairment and neurological dysfunction associated with a mutation in the mitochondrial tRNASer(UCN) gene. Eur J Hum Genet 1999; 7: 45\u201351.","journal-title":"Eur J Hum Genet"},{"key":"BFejhg200865_CR9","doi-asserted-by":"publisher","first-page":"1421","DOI":"10.1093\/hmg\/4.8.1421","volume":"4","author":"V Tiranti","year":"1995","unstructured":"Tiranti V, Chariot P, Carella F et al: Maternally inherited hearing loss, ataxia and myoclonus associated with a novel point mutation in mitochondrial tRNASer(UCN) gene. Hum Mol Genet 1995; 4: 1421\u20131427.","journal-title":"Hum Mol Genet"},{"key":"BFejhg200865_CR10","doi-asserted-by":"publisher","first-page":"700","DOI":"10.1002\/ana.410440420","volume":"44","author":"M Schuelke","year":"1998","unstructured":"Schuelke M, Bakker M, Stoltenburg G, Sperner J, von Moers A : Epilepsia partialis continua associated with a homoplasmic mitochondrial tRNASer(UCN) mutation. Ann Neurol 1998; 44: 700\u2013704.","journal-title":"Ann Neurol"},{"key":"BFejhg200865_CR11","doi-asserted-by":"publisher","first-page":"2275","DOI":"10.1093\/hmg\/8.12.2275","volume":"8","author":"M Toompuu","year":"1999","unstructured":"Toompuu M, Tiranti V, Zeviani M, Jacobs HT : Molecular phenotype of the np 7472 deafness-associated mitochondrial mutation in osteosarcoma cell cybrids. Hum Mol Genet 1999; 8: 2275\u20132283.","journal-title":"Hum Mol Genet"},{"key":"BFejhg200865_CR12","doi-asserted-by":"publisher","first-page":"22240","DOI":"10.1074\/jbc.M200338200","volume":"277","author":"M Toompuu","year":"2002","unstructured":"Toompuu M, Yasukawa T, Suzuki T et al: The 7472insC mitochondrial DNA mutation impairs the synthesis and extent of aminoacylation of tRNASer(UCN) but not its structure or rate of turnover. J Biol Chem 2002; 277: 22240\u201322250.","journal-title":"J Biol Chem"},{"key":"BFejhg200865_CR13","doi-asserted-by":"publisher","first-page":"5868","DOI":"10.1128\/MCB.18.10.5868","volume":"18","author":"MX Guan","year":"1998","unstructured":"Guan MX, Enriquez JA, Fischel-Ghodsian N et al: 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. Mol Cell Biol 1998; 18: 5868\u20135879.","journal-title":"Mol Cell Biol"},{"key":"BFejhg200865_CR14","doi-asserted-by":"publisher","first-page":"803","DOI":"10.1016\/j.bbrc.2004.07.181","volume":"322","author":"M Toompuu","year":"2004","unstructured":"Toompuu M, Levinger LL, Nadal A, Gomez J, Jacobs HT : The 7472insC mtDNA mutation impairs 5\u2032 and 3\u2032 processing of tRNASer(UCN). Biochem Biophys Res Commun 2004; 322: 803\u2013813.","journal-title":"Biochem Biophys Res Commun"},{"key":"BFejhg200865_CR15","doi-asserted-by":"publisher","first-page":"364","DOI":"10.1016\/j.nmd.2005.01.006","volume":"15","author":"T Pulkes","year":"2005","unstructured":"Pulkes T, Liolitsa D, Eunson LH et al: New phenotypic diversity associated with the mitochondrial tRNASer(UCN) gene mutation. Neuromuscul Disord 2005; 15: 364\u2013371.","journal-title":"Neuromuscul Disord"},{"key":"BFejhg200865_CR16","doi-asserted-by":"publisher","first-page":"26","DOI":"10.1016\/j.nmd.2005.11.001","volume":"16","author":"E Cardaioli","year":"2006","unstructured":"Cardaioli E, Da Pozzo P, Cerase A et al: Rapidly progressive neurodegeneration in a case with the 7472insC mutation and the A7472C polymorphism in the mtDNA tRNAser(UCN) gene. Neuromuscul Disord 2006; 16: 26\u201331.","journal-title":"Neuromuscul Disord"},{"key":"BFejhg200865_CR17","doi-asserted-by":"publisher","first-page":"413","DOI":"10.1093\/brain\/awg028","volume":"126","author":"T Taivassalo","year":"2003","unstructured":"Taivassalo T, Jensen TD, Kennaway N, DiMauro S, Vissing J, Haller RG : The spectrum of exercise tolerance in mitochondrial myopathies: a study of 40 patients. Brain 2003; 126: 413\u2013423.","journal-title":"Brain"},{"key":"BFejhg200865_CR18","doi-asserted-by":"publisher","first-page":"545","DOI":"10.1007\/BF01753355","volume":"21","author":"SL Old","year":"1989","unstructured":"Old SL, Johnson MA : Methods of microphotometric assay of succinate dehydrogenase and cytochrome c oxidase activities for use on human skeletal muscle. Histochem J 1989; 21: 545\u2013555.","journal-title":"Histochem J"},{"key":"BFejhg200865_CR19","doi-asserted-by":"publisher","first-page":"93","DOI":"10.1016\/S0091-679X(06)80004-X","volume":"80","author":"DM Kirby","year":"2007","unstructured":"Kirby DM, Thorburn DR, Turnbull DM, Taylor RW : Biochemical assays of respiratory chain complex activity. Methods Cell Biol 2007; 80: 93\u2013119.","journal-title":"Methods Cell Biol"},{"key":"BFejhg200865_CR20","doi-asserted-by":"publisher","first-page":"500","DOI":"10.1126\/science.2814477","volume":"246","author":"MP King","year":"1989","unstructured":"King MP, Attardi G : Human cells lacking mtDNA: repopulation with exogenous mitochondria by complementation. Science 1989; 246: 500\u2013503.","journal-title":"Science"},{"key":"BFejhg200865_CR21","doi-asserted-by":"publisher","first-page":"E74","DOI":"10.1093\/nar\/29.15.e74","volume":"29","author":"RW Taylor","year":"2001","unstructured":"Taylor RW, Taylor GA, Durham SE, Turnbull DM : The determination of complete human mitochondrial DNA sequences in single cells: implications for the study of somatic mitochondrial DNA point mutations. Nucleic Acids Res 2001; 29: E74.","journal-title":"Nucleic Acids Res"},{"key":"BFejhg200865_CR22","doi-asserted-by":"publisher","first-page":"1786","DOI":"10.1016\/S0735-1097(03)00300-0","volume":"41","author":"RW Taylor","year":"2003","unstructured":"Taylor RW, Giordano C, Davidson MM et al: A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy. J Am Coll Cardiol 2003; 41: 1786\u20131796.","journal-title":"J Am Coll Cardiol"},{"key":"BFejhg200865_CR23","doi-asserted-by":"publisher","first-page":"e95","DOI":"10.1093\/nar\/gkl516","volume":"34","author":"D Pye","year":"2006","unstructured":"Pye D, Kyriakouli DS, Taylor GA et al: Production of transmitochondrial cybrids containing naturally occurring pathogenic mtDNA variants. Nucleic Acids Res 2006; 34: e95.","journal-title":"Nucleic Acids Res"},{"key":"BFejhg200865_CR24","doi-asserted-by":"publisher","first-page":"197","DOI":"10.1016\/S0076-6879(96)64020-8","volume":"264","author":"A Chomyn","year":"1996","unstructured":"Chomyn A : In vivo labeling and analysis of human mitochondrial translation products. Methods Enzymol 1996; 264: 197\u2013211.","journal-title":"Methods Enzymol"},{"key":"BFejhg200865_CR25","doi-asserted-by":"publisher","first-page":"D611","DOI":"10.1093\/nar\/gki079","volume":"33","author":"MC Brandon","year":"2005","unstructured":"Brandon MC, Lott MT, Nguyen KC et al: MITOMAP: a human mitochondrial genome database \u2013 2004 update. Nucleic Acids Res 2005; 33: D611\u2013D613.","journal-title":"Nucleic Acids Res"},{"key":"BFejhg200865_CR26","doi-asserted-by":"publisher","first-page":"D749","DOI":"10.1093\/nar\/gkj010","volume":"34","author":"M Ingman","year":"2006","unstructured":"Ingman M, Gyllensten U : mtDB: human mitochondrial genome database, a resource for population genetics and medical sciences. Nucleic Acids Res 2006; 34: D749\u2013D751.","journal-title":"Nucleic Acids Res"},{"key":"BFejhg200865_CR27","doi-asserted-by":"publisher","first-page":"723","DOI":"10.1016\/j.nmd.2004.07.002","volume":"14","author":"V Fetoni","year":"2004","unstructured":"Fetoni V, Briem E, Carrara F, Mora M, Zeviani M : Monomelic amyotrophy associated with the 7472insC mutation in the mtDNA tRNASer(UCN) gene. Neuromuscul Disord 2004; 14: 723\u2013726.","journal-title":"Neuromuscul Disord"},{"key":"BFejhg200865_CR28","doi-asserted-by":"publisher","first-page":"350","DOI":"10.1038\/ng0498-350","volume":"18","author":"A El Meziane","year":"1998","unstructured":"El Meziane A, Lehtinen SK, Hance N et al: A tRNA suppressor mutation in human mitochondria. Nat Genet 1998; 18: 350\u2013353.","journal-title":"Nat Genet"},{"key":"BFejhg200865_CR29","doi-asserted-by":"publisher","first-page":"635","DOI":"10.1002\/ana.410440409","volume":"44","author":"M Jaksch","year":"1998","unstructured":"Jaksch M, Klopstock T, Kurlemann G et al: Progressive myoclonus epilepsy and mitochondrial myopathy associated with mutations in the tRNASer(UCN) gene. Ann Neurol 1998; 44: 635\u2013640.","journal-title":"Ann Neurol"}],"container-title":["European Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/ejhg200865.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ejhg200865","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ejhg200865.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T16:56:55Z","timestamp":1684429015000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/ejhg200865"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,4,9]]},"references-count":29,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2008,10]]}},"alternative-id":["BFejhg200865"],"URL":"https:\/\/doi.org\/10.1038\/ejhg.2008.65","relation":{},"ISSN":["1018-4813","1476-5438"],"issn-type":[{"value":"1018-4813","type":"print"},{"value":"1476-5438","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,4,9]]}}}