{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T19:46:55Z","timestamp":1792784815515,"version":"4.5.0"},"reference-count":20,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2016,9,1]],"date-time":"2016-09-01T00:00:00Z","timestamp":1472688000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2016,6,29]],"date-time":"2016-06-29T00:00:00Z","timestamp":1467158400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Maia Health Foundation","id":[{"id":"https:\/\/ror.org\/02bzj4420","id-type":"ROR","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100000274","name":"British Heart Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000274","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Sir Jules Thorn Award","award":["09\/JTA"],"award-info":[{"award-number":["09\/JTA"]}]},{"name":"EC FP7-PEOPLE-ITN Mitochondrial European Educational Training (MEET) Project","award":["GA #317433"],"award-info":[{"award-number":["GA #317433"]}]},{"name":"Add-On-Project"},{"name":"Vereinigung zur F\u00f6rderung p\u00e4diatrischer Forschung und Fortbildung","award":["01GM1113C"],"award-info":[{"award-number":["01GM1113C"]}]},{"name":"E-Rare project GENOMIT","award":["01GM1207"],"award-info":[{"award-number":["01GM1207"]}]},{"name":"BMBF","award":["FKZ 01ZX1405C"],"award-info":[{"award-number":["FKZ 01ZX1405C"]}],"id":[{"id":"https:\/\/ror.org\/04pz7b180","id-type":"ROR","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100013372","name":"The Wellcome Trust Centre for Mitochondrial Research","doi-asserted-by":"crossref","award":["096919Z\/11\/Z"],"award-info":[{"award-number":["096919Z\/11\/Z"]}],"id":[{"id":"10.13039\/501100013372","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Medical Research Council (UK) Centre for Translational Muscle Disease Research","award":["G0601943"],"award-info":[{"award-number":["G0601943"]}],"id":[{"id":"https:\/\/ror.org\/03x94j517","id-type":"ROR","asserted-by":"crossref"}]},{"name":"The Lily Foundation","id":[{"id":"https:\/\/ror.org\/00daznq87","id-type":"ROR","asserted-by":"crossref"}]},{"name":"UK NHS Highly Specialised Commissioners"},{"DOI":"10.13039\/501100000272","name":"National Institute for Health Research","doi-asserted-by":"publisher","award":["NIHR-HCS-D12-03-04"],"award-info":[{"award-number":["NIHR-HCS-D12-03-04"]}],"id":[{"id":"10.13039\/501100000272","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["ajhg.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[2016,9]]},"DOI":"10.1016\/j.ajhg.2016.06.027","type":"journal-article","created":{"date-parts":[[2016,8,12]],"date-time":"2016-08-12T04:08:31Z","timestamp":1470974911000},"page":"674-682","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":68,"title":["Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2"],"prefix":"10.1016","volume":"99","author":[{"given":"Hannah","family":"Kennedy","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tobias\u00a0B.","family":"Haack","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Verity","family":"Hartill","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lavinija","family":"Matakovi\u0107","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.\u00a0Regula","family":"Baumgartner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Howard","family":"Potter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard","family":"Mackay","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charlotte\u00a0L.","family":"Alston","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Siobhan","family":"O\u2019Sullivan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert","family":"McFarland","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Grainne","family":"Connolly","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caroline","family":"Gannon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard","family":"King","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Scott","family":"Mead","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ian","family":"Crozier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wandy","family":"Chan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chris\u00a0M.","family":"Florkowski","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin","family":"Sage","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"H\u00f6fken","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bader","family":"Alhaddad","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura\u00a0S.","family":"Kremer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert","family":"Kopajtich","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ren\u00e9\u00a0G.","family":"Feichtinger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wolfgang","family":"Sperl","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard\u00a0J.","family":"Rodenburg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean\u00a0Claude","family":"Minet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angus","family":"Dobbie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tim\u00a0M.","family":"Strom","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Meitinger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter\u00a0M.","family":"George","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Colin\u00a0A.","family":"Johnson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert\u00a0W.","family":"Taylor","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Holger","family":"Prokisch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kit","family":"Doudney","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johannes\u00a0A.","family":"Mayr","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ajhg.2016.06.027_bib1","doi-asserted-by":"crossref","first-page":"18538","DOI":"10.1074\/jbc.M110.214510","article-title":"Enhancement of the rate of pyrophosphate hydrolysis by nonenzymatic catalysts and by inorganic pyrophosphatase","volume":"286","author":"Stockbridge","year":"2011","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.ajhg.2016.06.027_bib2","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1016\/0167-4838(83)90081-X","article-title":"Isolation, subunit structure and localization of inorganic pyrophosphatase of heart and liver mitochondria","volume":"744","author":"Volk","year":"1983","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.ajhg.2016.06.027_bib3","doi-asserted-by":"crossref","first-page":"12168","DOI":"10.1016\/S0021-9258(18)98875-7","article-title":"Yeast PPA2 gene encodes a mitochondrial inorganic pyrophosphatase that is essential for mitochondrial function","volume":"266","author":"Lundin","year":"1991","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.ajhg.2016.06.027_bib4","doi-asserted-by":"crossref","first-page":"13082","DOI":"10.1074\/jbc.M112.439349","article-title":"Inorganic pyrophosphatase defects lead to cell cycle arrest and autophagic cell death through NAD+ depletion in fermenting yeast","volume":"288","author":"Serrano-Bueno","year":"2013","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.ajhg.2016.06.027_bib5","doi-asserted-by":"crossref","first-page":"346","DOI":"10.1093\/brain\/awv350","article-title":"Human thioredoxin 2 deficiency impairs mitochondrial redox homeostasis and causes early-onset neurodegeneration","volume":"139","author":"Holzerova","year":"2016","journal-title":"Brain"},{"key":"10.1016\/j.ajhg.2016.06.027_bib6","doi-asserted-by":"crossref","first-page":"1288","DOI":"10.1038\/ng.246","article-title":"TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy","volume":"40","author":"C\u00edzkov\u00e1","year":"2008","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2016.06.027_bib7","doi-asserted-by":"crossref","first-page":"3430","DOI":"10.1093\/hmg\/ddq254","article-title":"Mitochondrial ATP synthase deficiency due to a mutation in the ATP5E gene for the F1 epsilon subunit","volume":"19","author":"Mayr","year":"2010","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ajhg.2016.06.027_bib8","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1212\/WNL.47.1.243","article-title":"Lethal infantile mitochondrial disease with isolated complex I deficiency in fibroblasts but with combined complex I and IV deficiencies in muscle","volume":"47","author":"Bentlage","year":"1996","journal-title":"Neurology"},{"key":"10.1016\/j.ajhg.2016.06.027_bib9","doi-asserted-by":"crossref","first-page":"410","DOI":"10.1016\/j.ygeno.2005.09.017","article-title":"Human mitochondrial pyrophosphatase: cDNA cloning and analysis of the gene in patients with mtDNA depletion syndromes","volume":"87","author":"Curbo","year":"2006","journal-title":"Genomics"},{"key":"10.1016\/j.ajhg.2016.06.027_bib10","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1016\/0003-2697(87)90649-X","article-title":"Inorganic and organic phosphate measurements in the nanomolar range","volume":"161","author":"Van Veldhoven","year":"1987","journal-title":"Anal. Biochem."},{"key":"10.1016\/j.ajhg.2016.06.027_bib11","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1016\/j.ymgme.2014.09.010","article-title":"Expanding the clinical and molecular spectrum of thiamine pyrophosphokinase deficiency: a treatable neurological disorder caused by TPK1 mutations","volume":"113","author":"Banka","year":"2014","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ajhg.2016.06.027_bib12","doi-asserted-by":"crossref","first-page":"655","DOI":"10.1002\/j.1460-2075.1994.tb06304.x","article-title":"YAP1 dependent activation of TRX2 is essential for the response of Saccharomyces cerevisiae to oxidative stress by hydroperoxides","volume":"13","author":"Kuge","year":"1994","journal-title":"EMBO J."},{"key":"10.1016\/j.ajhg.2016.06.027_bib13","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1016\/S1388-1981(01)00117-2","article-title":"Production of acetate in the liver and its utilization in peripheral tissues","volume":"1532","author":"Yamashita","year":"2001","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.ajhg.2016.06.027_bib14","doi-asserted-by":"crossref","first-page":"11420","DOI":"10.1074\/jbc.M008782200","article-title":"Acetyl-CoA synthetase 2, a mitochondrial matrix enzyme involved in the oxidation of acetate","volume":"276","author":"Fujino","year":"2001","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.ajhg.2016.06.027_bib15","doi-asserted-by":"crossref","first-page":"1542","DOI":"10.1002\/ajmg.a.31313","article-title":"Novel mutations in dihydrolipoamide dehydrogenase deficiency in two cousins with borderline-normal PDH complex activity","volume":"140","author":"Cameron","year":"2006","journal-title":"Am. J. Med. Genet. A."},{"key":"10.1016\/j.ajhg.2016.06.027_bib16","doi-asserted-by":"crossref","first-page":"659","DOI":"10.1007\/s10545-013-9614-2","article-title":"Gastrointestinal and hepatic manifestations of mitochondrial disorders","volume":"36","author":"Rahman","year":"2013","journal-title":"J.\u00a0Inherit. Metab. Dis."},{"issue":"Suppl 4","key":"10.1016\/j.ajhg.2016.06.027_bib17","doi-asserted-by":"crossref","first-page":"92","DOI":"10.1111\/j.1528-1167.2012.03618.x","article-title":"Mitochondrial diseases and epilepsy","volume":"53","author":"Bindoff","year":"2012","journal-title":"Epilepsia"},{"key":"10.1016\/j.ajhg.2016.06.027_bib18","doi-asserted-by":"crossref","first-page":"e24","DOI":"10.1016\/j.ijcard.2009.03.057","article-title":"CMR gives clue to \u201cragged red fibers\u201d in the heart in a patient with mitochondrial myopathy","volume":"149","author":"Jose","year":"2011","journal-title":"Int. J. Cardiol."},{"key":"10.1016\/j.ajhg.2016.06.027_bib19","doi-asserted-by":"crossref","first-page":"138","DOI":"10.1111\/j.1432-1033.1996.0138u.x","article-title":"A site-directed mutagenesis study of Saccharomyces cerevisiae pyrophosphatase. Functional conservation of the active site of soluble inorganic pyrophosphatases","volume":"239","author":"Heikinheimo","year":"1996","journal-title":"Eur. J. Biochem."},{"key":"10.1016\/j.ajhg.2016.06.027_bib20","doi-asserted-by":"crossref","first-page":"2714","DOI":"10.1002\/elps.1150181505","article-title":"SWISS-MODEL and the Swiss-PdbViewer: an environment for comparative protein modeling","volume":"18","author":"Guex","year":"1997","journal-title":"Electrophoresis"}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929716302312?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929716302312?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2022,7,5]],"date-time":"2022-07-05T17:30:20Z","timestamp":1657042220000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929716302312"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,9]]},"references-count":20,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2016,9]]}},"alternative-id":["S0002929716302312"],"URL":"https:\/\/doi.org\/10.1016\/j.ajhg.2016.06.027","relation":{"has-review":[{"id-type":"doi","id":"10.3410\/f.726630668.793553479","asserted-by":"object"}]},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2016,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2","name":"articletitle","label":"Article Title"},{"value":"The American Journal of Human Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ajhg.2016.06.027","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"https:\/\/doi.org\/10.1016\/j.ajhg.2016.06.021","name":"associatedlink","label":"CrossRef DOI link to the associated document"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2016 The Author(s).","name":"copyright","label":"Copyright"}]}}