{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,23]],"date-time":"2026-08-23T17:35:01Z","timestamp":1787506501355,"version":"build-2736575974"},"reference-count":35,"publisher":"Elsevier BV","issue":"6","license":[{"start":{"date-parts":[[2017,6,1]],"date-time":"2017-06-01T00:00:00Z","timestamp":1496275200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2017,6,1]],"date-time":"2017-06-01T00:00:00Z","timestamp":1496275200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2018,5,7]],"date-time":"2018-05-07T00:00:00Z","timestamp":1525651200000},"content-version":"am","delay-in-days":340,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/100008273","name":"Novartis Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100008273","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001711","name":"Schweizerischer Nationalfonds zur F\u00f6rderung der Wissenschaftlichen Forschung","doi-asserted-by":"publisher","award":["P2BEP3_162065"],"award-info":[{"award-number":["P2BEP3_162065"]}],"id":[{"id":"10.13039\/501100001711","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007797","name":"Helsingin Yliopisto","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007797","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002341","name":"Academy of Finland","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002341","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Medical Genetics"],"published-print":{"date-parts":[[2017,6]]},"DOI":"10.1016\/j.ejmg.2017.04.006","type":"journal-article","created":{"date-parts":[[2017,4,13]],"date-time":"2017-04-13T07:18:00Z","timestamp":1492067880000},"page":"345-351","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":28,"title":["A novel mitochondrial ATP6 frameshift mutation causing isolated complex V deficiency, ataxia and encephalomyopathy"],"prefix":"10.1016","volume":"60","author":[{"given":"Christopher B.","family":"Jackson","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dagmar","family":"Hahn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbara","family":"Schr\u00f6ter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Uwe","family":"Richter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brendan J.","family":"Battersby","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Schmitt-Mechelke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paula","family":"Marttinen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Marc","family":"Nuoffer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5174-5764","authenticated-orcid":false,"given":"Andr\u00e9","family":"Schaller","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ejmg.2017.04.006_bib1","doi-asserted-by":"crossref","first-page":"457","DOI":"10.1038\/290457a0","article-title":"Sequence and organization of the human mitochondrial genome","volume":"290","author":"Anderson","year":"1981","journal-title":"Nature"},{"key":"10.1016\/j.ejmg.2017.04.006_bib2","first-page":"1810","volume":"vol 81","author":"Aur\u00e9","year":"2013"},{"key":"10.1016\/j.ejmg.2017.04.006_bib3","doi-asserted-by":"crossref","first-page":"812","DOI":"10.1111\/gbb.12089","article-title":"Identification and biochemical characterization of the novel mutation m.8839G\u00a0>\u00a0C in the mitochondrial ATP6gene associated with NARP syndrome","volume":"12","author":"Blanco-Grau","year":"2013","journal-title":"Genes, Brain Behav."},{"key":"10.1016\/j.ejmg.2017.04.006_bib4","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1016\/j.ymgme.2014.06.004","article-title":"Mitochondrial myopathy, lactic acidosis, and sideroblastic anemia (MLASA) plus associated with a novel de novo mutation (m.8969G\u00a0>\u00a0A) in the mitochondrial encoded ATP6 gene","volume":"113","author":"Burrage","year":"2014","journal-title":"Mol. Genet. Metabolism"},{"key":"10.1016\/j.ejmg.2017.04.006_bib5","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1002\/ana.20729","article-title":"Subcomplexes of human ATP synthase mark mitochondrial biosynthesis disorders","volume":"59","author":"Carrozzo","year":"2006","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.ejmg.2017.04.006_bib6","doi-asserted-by":"crossref","first-page":"374","DOI":"10.1093\/hmg\/ddp503","article-title":"Mitochondrial DNA background modifies the bioenergetics of NARP\/MILS ATP6 mutant cells","volume":"19","author":"D'Aurelio","year":"2010","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ejmg.2017.04.006_bib7","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":"10.1016\/j.ejmg.2017.04.006_bib8","doi-asserted-by":"crossref","first-page":"2046","DOI":"10.1002\/ajmg.a.31880","article-title":"Long-term outcome of Leigh syndrome caused by the NARP-T8993C mtDNA mutation","volume":"143A","author":"Debray","year":"2007","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.ejmg.2017.04.006_bib9","first-page":"636","article-title":"Isolated case of mental retardation and ataxia due to a de novo mitochondrial T8993G mutation","volume":"58","author":"de Coo","year":"1996","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2017.04.006_bib10","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1002\/mus.20598","article-title":"Approaches to the treatment of mitochondrial diseases","volume":"34","author":"Dimauro","year":"2006","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.ejmg.2017.04.006_bib11","doi-asserted-by":"crossref","first-page":"2253","DOI":"10.1016\/S0006-3495(03)74650-5","article-title":"On the mechanism of ATP hydrolysis in F1-ATPase","volume":"85","author":"Dittrich","year":"2003","journal-title":"Biophysj"},{"key":"10.1016\/j.ejmg.2017.04.006_bib12","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1016\/j.bbabio.2004.04.012","article-title":"Mitochondrial diseases and ATPase defects of nuclear origin","volume":"1658","author":"Houstek","year":"2004","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.ejmg.2017.04.006_bib13","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1016\/j.ijcard.2016.01.026","article-title":"Rapidly progressive infantile cardiomyopathy with mitochondrial respiratory chain complex V deficiency due to loss of ATPase 6 and 8 protein","volume":"207","author":"Imai","year":"2016","journal-title":"Int. J. Cardiol."},{"key":"10.1016\/j.ejmg.2017.04.006_bib14","doi-asserted-by":"crossref","first-page":"1453","DOI":"10.1136\/bjophthalmol-2014-305300","article-title":"Novel mitochondrial tRNA(Ile) m.4282A\u00a0>\u00a0G gene mutation leads to chronic progressive external ophthalmoplegia plus phenotype","volume":"98","author":"Jackson","year":"2014","journal-title":"Br. J. Ophthalmol."},{"key":"10.1016\/j.ejmg.2017.04.006_bib15","doi-asserted-by":"crossref","first-page":"170","DOI":"10.1136\/jmedgenet-2013-101932","article-title":"Mutations in SDHD lead to autosomal recessive encephalomyopathy and isolated mitochondrial complex II deficiency","volume":"51","author":"Jackson","year":"2014","journal-title":"J.\u00a0Med. Genet."},{"key":"10.1016\/j.ejmg.2017.04.006_bib16","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1016\/j.mito.2014.05.011","article-title":"Heterologous expression from the human D-Loop in organello","volume":"17","author":"Jackson","year":"2014","journal-title":"Mitochondrion"},{"key":"10.1016\/j.ejmg.2017.04.006_bib17","doi-asserted-by":"crossref","first-page":"561","DOI":"10.1042\/BJ20040407","article-title":"Diminished synthesis of subunit a (ATP6) and altered function of ATP synthase and cytochrome c oxidase due to the mtDNA 2 bp microdeletion of TA at positions 9205 and 9206","volume":"383","author":"Jesina","year":"2004","journal-title":"Biochem. J."},{"key":"10.1016\/j.ejmg.2017.04.006_bib18","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1136\/jmg.2007.052084","article-title":"A\u00a0novel mitochondrial ATP8 gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy","volume":"45","author":"Jonckheere","year":"2008","journal-title":"J.\u00a0Med. Genet."},{"key":"10.1016\/j.ejmg.2017.04.006_bib19","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1007\/s10545-011-9382-9","article-title":"Mitochondrial ATP synthase: architecture, function and pathology","volume":"35","author":"Jonckheere","year":"2012","journal-title":"J.\u00a0Inherit. Metab. Dis."},{"key":"10.1016\/j.ejmg.2017.04.006_bib20","doi-asserted-by":"crossref","first-page":"1544","DOI":"10.1093\/brain\/awt086","article-title":"A\u00a0complex V ATP5A1 defect causes fatal neonatal mitochondrial encephalopathy","volume":"136","author":"Jonckheere","year":"2013","journal-title":"Brain"},{"key":"10.1016\/j.ejmg.2017.04.006_bib21","doi-asserted-by":"crossref","first-page":"200","DOI":"10.1016\/j.biochi.2013.11.024","article-title":"Defining the impact on yeast ATP synthase of two pathogenic human mitochondrial DNA mutations, T9185C and T9191C","volume":"100","author":"Kabala","year":"2014","journal-title":"Biochimie"},{"key":"10.1016\/j.ejmg.2017.04.006_bib22","first-page":"177","volume":"vol 24","author":"Kogelnik","year":"1996"},{"key":"10.1016\/j.ejmg.2017.04.006_bib23","doi-asserted-by":"crossref","first-page":"1105","DOI":"10.1016\/j.bbabio.2009.12.022","article-title":"Consequences of the pathogenic T9176C mutation of human mitochondrial DNA on yeast mitochondrial ATP synthase","volume":"1797","author":"Kucharczyk","year":"2010","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.ejmg.2017.04.006_bib24","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1136\/jmg.2008.060616","article-title":"NARP syndrome in a patient harbouring an insertion in the MT-ATP6 gene that results in a truncated protein","volume":"46","author":"L\u00f3pez-Gallardo","year":"2009","journal-title":"J.\u00a0Med. Genet."},{"key":"10.1016\/j.ejmg.2017.04.006_bib25","doi-asserted-by":"crossref","first-page":"6191","DOI":"10.1093\/hmg\/ddu339","article-title":"Expanding the clinical phenotypes of MT-ATP6 mutations","volume":"23","author":"L\u00f3pez-Gallardo","year":"2014","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ejmg.2017.04.006_bib26","doi-asserted-by":"crossref","first-page":"414","DOI":"10.1007\/s11940-009-0046-0","article-title":"A\u00a0modern approach to the treatment of mitochondrial disease","volume":"11","author":"Parikh","year":"2009","journal-title":"Curr. Treat. Options Neurol."},{"key":"10.1016\/j.ejmg.2017.04.006_bib27","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1002\/ajmg.1320500310","article-title":"Leigh syndrome and hypertrophic cardiomyopathy in an infant with a mitochondrial DNA point mutation (T8993G)","volume":"50","author":"Pastores","year":"1994","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2017.04.006_bib28","first-page":"1145","volume":"vol 79","author":"Pitceathly","year":"2012"},{"key":"10.1016\/j.ejmg.2017.04.006_bib29","doi-asserted-by":"crossref","first-page":"535","DOI":"10.1016\/j.cub.2013.02.019","article-title":"A\u00a0Mitochondrial ribosomal and RNA decay pathway blocks cell proliferation","volume":"23","author":"Richter","year":"2013","journal-title":"Curr. Biol."},{"key":"10.1016\/j.ejmg.2017.04.006_bib30","doi-asserted-by":"crossref","first-page":"373","DOI":"10.1083\/jcb.201504062","article-title":"Quality control of mitochondrial protein synthesis is required for membrane integrity and cell fitness","volume":"211","author":"Richter","year":"2015","journal-title":"J.\u00a0Cell Biol."},{"key":"10.1016\/j.ejmg.2017.04.006_bib31","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1007\/s10545-010-9081-y","article-title":"Biochemical diagnosis of mitochondrial disorders","volume":"34","author":"Rodenburg","year":"2011","journal-title":"J.\u00a0Inherit. Metab. Dis."},{"key":"10.1016\/j.ejmg.2017.04.006_bib32","doi-asserted-by":"crossref","first-page":"488","DOI":"10.1016\/j.mito.2011.01.005","article-title":"Impairment of mitochondrial tRNAIle processing by a novel mutation associated with chronic progressive external ophthalmoplegia","volume":"11","author":"Schaller","year":"2011","journal-title":"MITOCH"},{"key":"10.1016\/j.ejmg.2017.04.006_bib33","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1186\/1471-2377-11-4","article-title":"Molecular and biochemical characterisation of a novel mutation in POLG associated with Alpers syndrome","volume":"11","author":"Schaller","year":"2011","journal-title":"BMC Neurol."},{"key":"10.1016\/j.ejmg.2017.04.006_bib34","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1016\/j.mito.2010.07.006","article-title":"Hereditary spastic paraplegia-like disorder due to a mitochondrial ATP6 gene point mutation","volume":"11","author":"Verny","year":"2011","journal-title":"Mitochondrion"},{"key":"10.1016\/j.ejmg.2017.04.006_bib35","doi-asserted-by":"crossref","DOI":"10.1016\/j.bbabio.2008.04.027","article-title":"Structural organization of mitochondrial ATP synthase","volume":"1777","author":"Wittig","year":"2008","journal-title":"BBA - Bioenerg."}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721216303974?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721216303974?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:44:23Z","timestamp":1761709463000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1769721216303974"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,6]]},"references-count":35,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2017,6]]}},"alternative-id":["S1769721216303974"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2017.04.006","relation":{},"ISSN":["1769-7212"],"issn-type":[{"value":"1769-7212","type":"print"}],"subject":[],"published":{"date-parts":[[2017,6]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"A novel mitochondrial ATP6 frameshift mutation causing isolated complex V deficiency, ataxia and encephalomyopathy","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2017.04.006","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2017 Elsevier Masson SAS. All rights reserved.","name":"copyright","label":"Copyright"}]}}