{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T11:49:48Z","timestamp":1791978588117,"version":"4.4.0"},"reference-count":70,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2016,10,1]],"date-time":"2016-10-01T00:00:00Z","timestamp":1475280000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2016,8,23]],"date-time":"2016-08-23T00:00:00Z","timestamp":1471910400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100004440","name":"Wellcome Trust","doi-asserted-by":"publisher","award":["096919\/Z\/11\/Z"],"award-info":[{"award-number":["096919\/Z\/11\/Z"]}],"id":[{"id":"10.13039\/100004440","id-type":"DOI","asserted-by":"publisher"}]},{"name":"MRC Centre for Neuromuscular Diseases","award":["G0601943"],"award-info":[{"award-number":["G0601943"]}]},{"name":"Lily Foundation"},{"name":"UK NHS Highly Specialised\u00a0\u201cRare Mitochondrial Disorders of Adults and Children\u201d Service in Newcastle upon Tyne"},{"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"}]},{"DOI":"10.13039\/501100000276","name":"Department of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000276","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000265","name":"Medical Research Council UK","doi-asserted-by":"crossref","award":["MC_U105663139"],"award-info":[{"award-number":["MC_U105663139"]}],"id":[{"id":"10.13039\/501100000265","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100002426","name":"Fondazione Telethon","doi-asserted-by":"publisher","award":["GGP15041"],"award-info":[{"award-number":["GGP15041"]}],"id":[{"id":"10.13039\/501100002426","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001837","name":"Estonian Science Foundation","doi-asserted-by":"publisher","award":["8175"],"award-info":[{"award-number":["8175"]}],"id":[{"id":"10.13039\/501100001837","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001837","name":"Estonian Science Foundation","doi-asserted-by":"publisher","award":["PUT355"],"award-info":[{"award-number":["PUT355"]}],"id":[{"id":"10.13039\/501100001837","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004012","name":"Jane and Aatos Erkko Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004012","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100006306","name":"Sigrid Jus\u00e9lius Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100006306","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Academy of Finland and Helsinki University Hospital Funds"},{"name":"National Institute of Neurological Disorders and Stroke of the National Institutes of Health","award":["R01NS083726"],"award-info":[{"award-number":["R01NS083726"]}]}],"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":[[2016,10]]},"DOI":"10.1016\/j.ajhg.2016.08.014","type":"journal-article","created":{"date-parts":[[2016,10,1]],"date-time":"2016-10-01T13:42:11Z","timestamp":1475329331000},"page":"860-876","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":107,"title":["Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number"],"prefix":"10.1016","volume":"99","author":[{"given":"Kyle","family":"Thompson","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Homa","family":"Majd","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristina","family":"Dallabona","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karit","family":"Reinson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin S.","family":"King","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charlotte L.","family":"Alston","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Langping","family":"He","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tiziana","family":"Lodi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simon A.","family":"Jones","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aviva","family":"Fattal-Valevski","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nitay D.","family":"Fraenkel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ann","family":"Saada","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alon","family":"Haham","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pirjo","family":"Isohanni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roshni","family":"Vara","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"In\u00eas A.","family":"Barbosa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael A.","family":"Simpson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charu","family":"Deshpande","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sanna","family":"Puusepp","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Penelope E.","family":"Bonnen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard J.","family":"Rodenburg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anu","family":"Suomalainen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katrin","family":"\u00d5unap","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Orly","family":"Elpeleg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ileana","family":"Ferrero","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert","family":"McFarland","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edmund R.S.","family":"Kunji","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert W.","family":"Taylor","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ajhg.2016.08.014_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.ajhg.2016.08.014_bib2","doi-asserted-by":"crossref","first-page":"1494","DOI":"10.1126\/science.aac7516","article-title":"Mutations causing mitochondrial disease: What is new and what challenges remain?","volume":"349","author":"Lightowlers","year":"2015","journal-title":"Science"},{"key":"10.1016\/j.ajhg.2016.08.014_bib3","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1001\/jama.2014.7184","article-title":"Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies","volume":"312","author":"Taylor","year":"2014","journal-title":"JAMA"},{"key":"10.1016\/j.ajhg.2016.08.014_bib4","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1016\/S0014-5793(04)00242-X","article-title":"The role and structure of mitochondrial carriers","volume":"564","author":"Kunji","year":"2004","journal-title":"FEBS Lett."},{"key":"10.1016\/j.ajhg.2016.08.014_bib5","doi-asserted-by":"crossref","first-page":"250","DOI":"10.1016\/0014-5793(82)80648-0","article-title":"Internal sequence repeats and the path of polypeptide in mitochondrial ADP\/ATP translocase","volume":"144","author":"Saraste","year":"1982","journal-title":"FEBS Lett."},{"key":"10.1016\/j.ajhg.2016.08.014_bib6","doi-asserted-by":"crossref","first-page":"565","DOI":"10.1007\/s10545-014-9708-5","article-title":"Mitochondrial transporters of the SLC25 family and associated diseases: a review","volume":"37","author":"Palmieri","year":"2014","journal-title":"J.\u00a0Inherit. Metab. Dis."},{"key":"10.1016\/j.ajhg.2016.08.014_bib7","doi-asserted-by":"crossref","first-page":"1978","DOI":"10.1016\/j.bbamem.2008.04.011","article-title":"The ADP and ATP transport in mitochondria and its carrier","volume":"1778","author":"Klingenberg","year":"2008","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.ajhg.2016.08.014_bib8","doi-asserted-by":"crossref","first-page":"782","DOI":"10.1126\/science.289.5480.782","article-title":"Role of adenine nucleotide translocator 1 in mtDNA maintenance","volume":"289","author":"Kaukonen","year":"2000","journal-title":"Science"},{"key":"10.1016\/j.ajhg.2016.08.014_bib9","doi-asserted-by":"crossref","first-page":"2295","DOI":"10.1212\/WNL.57.12.2295","article-title":"A novel missense adenine nucleotide translocator-1 gene mutation in a Greek adPEO family","volume":"57","author":"Napoli","year":"2001","journal-title":"Neurology"},{"key":"10.1016\/j.ajhg.2016.08.014_bib10","doi-asserted-by":"crossref","first-page":"645","DOI":"10.1002\/ana.10172","article-title":"A novel D104G mutation in the adenine nucleotide translocator 1 gene in autosomal dominant progressive external ophthalmoplegia patients with mitochondrial DNA with multiple deletions","volume":"51","author":"Komaki","year":"2002","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.ajhg.2016.08.014_bib11","doi-asserted-by":"crossref","first-page":"162","DOI":"10.1016\/S0960-8966(02)00221-3","article-title":"Autosomal dominant external ophthalmoplegia and bipolar affective disorder associated with a mutation in the ANT1 gene","volume":"13","author":"Siciliano","year":"2003","journal-title":"Neuromuscul. Disord."},{"key":"10.1016\/j.ajhg.2016.08.014_bib12","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1016\/j.nmd.2004.12.004","article-title":"A novel ANT1 gene mutation with probable germline mosaicism in autosomal dominant progressive external ophthalmoplegia","volume":"15","author":"Deschauer","year":"2005","journal-title":"Neuromuscul. Disord."},{"key":"10.1016\/j.ajhg.2016.08.014_bib13","doi-asserted-by":"crossref","first-page":"3079","DOI":"10.1093\/hmg\/ddi341","article-title":"Complete loss-of-function of the heart\/muscle-specific adenine nucleotide translocator is associated with mitochondrial myopathy and cardiomyopathy","volume":"14","author":"Palmieri","year":"2005","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ajhg.2016.08.014_bib14","doi-asserted-by":"crossref","first-page":"146","DOI":"10.1136\/jmedgenet-2011-100504","article-title":"Complete loss of expression of the ANT1 gene causing cardiomyopathy and myopathy","volume":"49","author":"Echaniz-Laguna","year":"2012","journal-title":"J.\u00a0Med. Genet."},{"key":"10.1016\/j.ajhg.2016.08.014_bib15","doi-asserted-by":"crossref","first-page":"3453","DOI":"10.1073\/pnas.1300690110","article-title":"Severity of cardiomyopathy associated with adenine nucleotide translocator-1 deficiency correlates with mtDNA haplogroup","volume":"110","author":"Strauss","year":"2013","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.ajhg.2016.08.014_bib16","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1007\/8904_2015_409","article-title":"Two novel mutations in the SLC25A4 gene in a patient with mitochondrial myopathy","volume":"22","author":"K\u00f6rver-Keularts","year":"2015","journal-title":"JIMD Rep."},{"key":"10.1016\/j.ajhg.2016.08.014_bib17","doi-asserted-by":"crossref","first-page":"633","DOI":"10.1016\/j.febslet.2004.12.034","article-title":"A\u00a0fourth ADP\/ATP carrier isoform in man: identification, bacterial expression, functional characterization and tissue distribution","volume":"579","author":"Dolce","year":"2005","journal-title":"FEBS Lett."},{"key":"10.1016\/j.ajhg.2016.08.014_bib18","doi-asserted-by":"crossref","first-page":"13998","DOI":"10.1016\/S0021-9258(18)71632-3","article-title":"A human muscle adenine nucleotide translocator gene has four exons, is located on chromosome 4, and is differentially expressed","volume":"264","author":"Li","year":"1989","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.ajhg.2016.08.014_bib19","doi-asserted-by":"crossref","first-page":"485","DOI":"10.1016\/j.mam.2012.05.006","article-title":"The mitochondrial ADP\/ATP carrier (SLC25 family): pathological implications of its dysfunction","volume":"34","author":"Cl\u00e9men\u00e7on","year":"2013","journal-title":"Mol. Aspects Med."},{"key":"10.1016\/j.ajhg.2016.08.014_bib20","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1016\/S0091-679X(06)80004-X","article-title":"Biochemical assays of respiratory chain complex activity","volume":"80","author":"Kirby","year":"2007","journal-title":"Methods Cell Biol."},{"key":"10.1016\/j.ajhg.2016.08.014_bib21","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.ajhg.2016.08.014_bib22","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1016\/0022-510X(95)00225-5","article-title":"Diagnosis of fatal infantile defects of the mitochondrial respiratory chain: age dependence and postmortem analysis of enzyme activities","volume":"134","author":"Majander","year":"1995","journal-title":"J.\u00a0Neurol. Sci."},{"key":"10.1016\/j.ajhg.2016.08.014_bib23","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1038\/ng.779","article-title":"Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss","volume":"43","author":"Simpson","year":"2011","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2016.08.014_bib24","doi-asserted-by":"crossref","first-page":"1721","DOI":"10.1002\/humu.22450","article-title":"A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases","volume":"34","author":"Neveling","year":"2013","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ajhg.2016.08.014_bib25","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1007\/s10545-015-9823-y","article-title":"Whole exome sequencing of\u00a0suspected mitochondrial patients in clinical practice","volume":"38","author":"Wortmann","year":"2015","journal-title":"J.\u00a0Inherit. Metab. Dis."},{"key":"10.1016\/j.ajhg.2016.08.014_bib26","doi-asserted-by":"crossref","DOI":"10.1136\/jmedgenet-2016-103922","article-title":"Deficiency of HTRA2\/Omi is associated with infantile neurodegeneration and 3-methylglutaconic aciduria","author":"Mandel","year":"2016","journal-title":"J.\u00a0Med. Genet."},{"key":"10.1016\/j.ajhg.2016.08.014_bib27","doi-asserted-by":"crossref","first-page":"R94","DOI":"10.1186\/gb-2011-12-9-r94","article-title":"Comparison of solution-based exome capture methods for next generation sequencing","volume":"12","author":"Sulonen","year":"2011","journal-title":"Genome Biol."},{"key":"10.1016\/j.ajhg.2016.08.014_bib28","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1136\/jmedgenet-2012-101375","article-title":"Whole-exome sequencing identifies a mutation in the mitochondrial ribosome protein MRPL44 to underlie mitochondrial infantile cardiomyopathy","volume":"50","author":"Carroll","year":"2013","journal-title":"J.\u00a0Med. Genet."},{"key":"10.1016\/j.ajhg.2016.08.014_bib29","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1016\/0378-1119(89)90358-2","article-title":"Site-directed mutagenesis by overlap extension using the polymerase chain reaction","volume":"77","author":"Ho","year":"1989","journal-title":"Gene"},{"key":"10.1016\/j.ajhg.2016.08.014_bib30","doi-asserted-by":"crossref","first-page":"3662","DOI":"10.1128\/AEM.62.10.3662-3667.1996","article-title":"Controlled gene expression systems for Lactococcus lactis with the food-grade inducer nisin","volume":"62","author":"de Ruyter","year":"1996","journal-title":"Appl. Environ. Microbiol."},{"key":"10.1016\/j.ajhg.2016.08.014_bib31","doi-asserted-by":"crossref","first-page":"546","DOI":"10.1016\/j.copbio.2005.08.006","article-title":"Eukaryotic membrane protein overproduction in Lactococcus lactis","volume":"16","author":"Kunji","year":"2005","journal-title":"Curr. Opin. Biotechnol."},{"key":"10.1016\/j.ajhg.2016.08.014_bib32","doi-asserted-by":"crossref","first-page":"619","DOI":"10.1016\/0092-8674(89)90584-9","article-title":"Elevated recombination rates in transcriptionally active DNA","volume":"56","author":"Thomas","year":"1989","journal-title":"Cell"},{"key":"10.1016\/j.ajhg.2016.08.014_bib33","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1016\/S0005-2728(98)00155-8","article-title":"Expression of the bovine heart\u00a0mitochondrial ADP\/ATP carrier in yeast mitochondria: significantly enhanced expression by replacement of the N-terminal region of the bovine carrier by the corresponding regions of the yeast carriers","volume":"1409","author":"Hashimoto","year":"1999","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.ajhg.2016.08.014_bib34","doi-asserted-by":"crossref","first-page":"426","DOI":"10.1016\/j.ymeth.2010.02.023","article-title":"In\u00a0vivo analysis of mtDNA replication defects in yeast","volume":"51","author":"Baruffini","year":"2010","journal-title":"Methods"},{"key":"10.1016\/j.ajhg.2016.08.014_bib35","doi-asserted-by":"crossref","first-page":"923","DOI":"10.1093\/hmg\/ddh108","article-title":"Mutations in AAC2, equivalent to human adPEO-associated ANT1 mutations, lead to defective oxidative phosphorylation in Saccharomyces cerevisiae and affect mitochondrial DNA stability","volume":"13","author":"Fontanesi","year":"2004","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ajhg.2016.08.014_bib36","doi-asserted-by":"crossref","first-page":"609","DOI":"10.1002\/yea.320070609","article-title":"A family of low and high copy replicative, integrative and single-stranded S.\u00a0cerevisiae\/E.\u00a0coli shuttle vectors","volume":"7","author":"Bonneaud","year":"1991","journal-title":"Yeast"},{"key":"10.1016\/j.ajhg.2016.08.014_bib37","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1038\/nprot.2007.13","article-title":"High-efficiency yeast transformation using the LiAc\/SS carrier DNA\/PEG method","volume":"2","author":"Gietz","year":"2007","journal-title":"Nat. Protoc."},{"key":"10.1016\/j.ajhg.2016.08.014_bib38","doi-asserted-by":"crossref","first-page":"1860","DOI":"10.1093\/hmg\/ddp102","article-title":"Functional study in a yeast model of a novel succinate dehydrogenase subunit B gene germline missense mutation (C191Y) diagnosed in a patient affected by a glomus tumor","volume":"18","author":"Goffrini","year":"2009","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ajhg.2016.08.014_bib39","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1016\/S1046-2023(02)00036-1","article-title":"In\u00a0vivo and in organello assessment of OXPHOS activities","volume":"26","author":"Barrientos","year":"2002","journal-title":"Methods"},{"key":"10.1016\/j.ajhg.2016.08.014_bib40","first-page":"20","article-title":"Predicting functional effect of human missense mutations using PolyPhen-2","volume":"Chapter 7","author":"Adzhubei","year":"2013","journal-title":"Curr. Protoc. Hum. Genet."},{"key":"10.1016\/j.ajhg.2016.08.014_bib41","doi-asserted-by":"crossref","first-page":"1073","DOI":"10.1038\/nprot.2009.86","article-title":"Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm","volume":"4","author":"Kumar","year":"2009","journal-title":"Nat. Protoc."},{"key":"10.1016\/j.ajhg.2016.08.014_bib42","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1038\/ng.2892","article-title":"A general framework for estimating the relative pathogenicity of human genetic variants","volume":"46","author":"Kircher","year":"2014","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2016.08.014_bib43","doi-asserted-by":"crossref","first-page":"295","DOI":"10.1136\/jmg.2005.033878","article-title":"Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral","volume":"43","author":"Tavtigian","year":"2006","journal-title":"J.\u00a0Med. Genet."},{"key":"10.1016\/j.ajhg.2016.08.014_bib44","doi-asserted-by":"crossref","first-page":"17766","DOI":"10.1073\/pnas.0809580105","article-title":"The mechanism of transport by mitochondrial carriers based on analysis of symmetry","volume":"105","author":"Robinson","year":"2008","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.ajhg.2016.08.014_bib45","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1006\/jmbi.1997.1594","article-title":"Highly conserved charge-pair networks in the mitochondrial carrier family","volume":"277","author":"Nelson","year":"1998","journal-title":"J.\u00a0Mol. Biol."},{"key":"10.1016\/j.ajhg.2016.08.014_bib46","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1038\/nature02056","article-title":"Structure of mitochondrial ADP\/ATP carrier in complex with carboxyatractyloside","volume":"426","author":"Pebay-Peyroula","year":"2003","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2016.08.014_bib47","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1016\/j.bbabio.2015.09.013","article-title":"Formation of a cytoplasmic salt bridge network in the matrix state is a fundamental step in the transport mechanism of the mitochondrial ADP\/ATP carrier","volume":"1857","author":"King","year":"2016","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.ajhg.2016.08.014_bib48","doi-asserted-by":"crossref","first-page":"E426","DOI":"10.1073\/pnas.1320692111","article-title":"Structures of yeast mitochondrial ADP\/ATP carriers support a domain-based alternating-access transport mechanism","volume":"111","author":"Ruprecht","year":"2014","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.ajhg.2016.08.014_bib49","doi-asserted-by":"crossref","first-page":"1237","DOI":"10.1016\/j.bbabio.2006.03.021","article-title":"The conserved substrate binding site of mitochondrial carriers","volume":"1757","author":"Kunji","year":"2006","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.ajhg.2016.08.014_bib50","doi-asserted-by":"crossref","first-page":"2617","DOI":"10.1073\/pnas.0509994103","article-title":"Mitochondrial carriers in the cytoplasmic state have a common substrate binding site","volume":"103","author":"Robinson","year":"2006","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.ajhg.2016.08.014_bib51","doi-asserted-by":"crossref","first-page":"2379","DOI":"10.1016\/j.bbamcr.2016.03.015","article-title":"The transport mechanism of the mitochondrial ADP\/ATP carrier","volume":"1863","author":"Kunji","year":"2016","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.ajhg.2016.08.014_bib52","doi-asserted-by":"crossref","first-page":"160","DOI":"10.3109\/09687688.2012.745175","article-title":"The substrate specificity of the human ADP\/ATP carrier AAC1","volume":"30","author":"Mifsud","year":"2013","journal-title":"Mol. Membr. Biol."},{"key":"10.1016\/j.ajhg.2016.08.014_bib53","doi-asserted-by":"crossref","first-page":"10830","DOI":"10.1073\/pnas.0703969104","article-title":"The yeast mitochondrial ADP\/ATP carrier functions as a monomer in mitochondrial membranes","volume":"104","author":"Bamber","year":"2007","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.ajhg.2016.08.014_bib54","doi-asserted-by":"crossref","first-page":"1985","DOI":"10.1091\/mbc.E15-01-0030","article-title":"Misfolding of mutant adenine nucleotide translocase in yeast supports a novel mechanism of Ant1-induced muscle diseases","volume":"26","author":"Liu","year":"2015","journal-title":"Mol. Biol. Cell"},{"key":"10.1016\/j.ajhg.2016.08.014_bib55","doi-asserted-by":"crossref","first-page":"429","DOI":"10.1016\/j.nmd.2010.03.017","article-title":"Mitochondrial DNA depletion syndromes--many genes, common mechanisms","volume":"20","author":"Suomalainen","year":"2010","journal-title":"Neuromuscul. Disord."},{"key":"10.1016\/j.ajhg.2016.08.014_bib56","doi-asserted-by":"crossref","first-page":"146860","DOI":"10.1155\/2013\/146860","article-title":"Adenine nucleotide translocase, mitochondrial stress, and degenerative cell death","volume":"2013","author":"Liu","year":"2013","journal-title":"Oxid. Med. Cell. Longev."},{"key":"10.1016\/j.ajhg.2016.08.014_bib57","doi-asserted-by":"crossref","first-page":"36985","DOI":"10.1074\/jbc.C300304200","article-title":"Projection structure of the atractyloside-inhibited mitochondrial ADP\/ATP carrier of Saccharomyces cerevisiae","volume":"278","author":"Kunji","year":"2003","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.ajhg.2016.08.014_bib58","doi-asserted-by":"crossref","first-page":"817","DOI":"10.1016\/j.bbabio.2010.03.023","article-title":"Mitochondrial carriers function as monomers","volume":"1797","author":"Kunji","year":"2010","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.ajhg.2016.08.014_bib59","doi-asserted-by":"crossref","first-page":"22163","DOI":"10.1074\/jbc.M113.484329","article-title":"Lipid, detergent, and Coomassie Blue G-250 affect the migration of small membrane proteins in blue native gels: mitochondrial carriers migrate as monomers not dimers","volume":"288","author":"Crichton","year":"2013","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.ajhg.2016.08.014_bib60","doi-asserted-by":"crossref","first-page":"5491","DOI":"10.1038\/ncomms6491","article-title":"Calcium-induced conformational changes of the regulatory domain of human mitochondrial aspartate\/glutamate carriers","volume":"5","author":"Thangaratnarajah","year":"2014","journal-title":"Nat. Commun."},{"key":"10.1016\/j.ajhg.2016.08.014_bib61","doi-asserted-by":"crossref","first-page":"226","DOI":"10.1038\/ng0797-226","article-title":"A mouse model for\u00a0mitochondrial myopathy and cardiomyopathy resulting from a deficiency in the heart\/muscle isoform of the adenine nucleotide translocator","volume":"16","author":"Graham","year":"1997","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2016.08.014_bib62","doi-asserted-by":"crossref","first-page":"4820","DOI":"10.1073\/pnas.96.9.4820","article-title":"Mitochondrial disease in mouse results in increased oxidative stress","volume":"96","author":"Esposito","year":"1999","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.ajhg.2016.08.014_bib63","doi-asserted-by":"crossref","first-page":"30722","DOI":"10.1074\/jbc.M400445200","article-title":"Identification of the mitochondrial ATP-Mg\/Pi transporter. Bacterial expression, reconstitution, functional characterization, and tissue distribution","volume":"279","author":"Fiermonte","year":"2004","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.ajhg.2016.08.014_bib64","doi-asserted-by":"crossref","first-page":"775","DOI":"10.1038\/274775a0","article-title":"Molecular basis of base substitution hotspots in Escherichia coli","volume":"274","author":"Coulondre","year":"1978","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2016.08.014_bib65","doi-asserted-by":"crossref","first-page":"471","DOI":"10.1038\/nature11396","article-title":"Rate of de novo mutations and\u00a0the importance of father\u2019s age to disease risk","volume":"488","author":"Kong","year":"2012","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2016.08.014_bib66","doi-asserted-by":"crossref","first-page":"104","DOI":"10.3389\/fneur.2015.00104","article-title":"Recurrent and non-recurrent mutations of SCN8A in epileptic encephalopathy","volume":"6","author":"Wagnon","year":"2015","journal-title":"Front. Neurol."},{"key":"10.1016\/j.ajhg.2016.08.014_bib67","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1038\/ng.3144","article-title":"A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy","volume":"47","author":"Muona","year":"2015","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2016.08.014_bib68","doi-asserted-by":"crossref","first-page":"116","DOI":"10.1016\/j.pediatrneurol.2005.07.009","article-title":"Recurrent de novo mutations of SCN1A in severe myoclonic epilepsy of infancy","volume":"34","author":"Kearney","year":"2006","journal-title":"Pediatr. Neurol."},{"key":"10.1016\/j.ajhg.2016.08.014_bib69","doi-asserted-by":"crossref","first-page":"1122","DOI":"10.1016\/j.ajhg.2012.10.013","article-title":"Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome","volume":"91","author":"Schuurs-Hoeijmakers","year":"2012","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2016.08.014_bib70","doi-asserted-by":"crossref","first-page":"483","DOI":"10.1016\/j.ajhg.2015.08.001","article-title":"Recurrent de novo mutations affecting residue Arg138 of pyrroline-5-carboxylate synthase cause a progeroid form of autosomal-dominant cutis laxa","volume":"97","author":"Fischer-Zirnsak","year":"2015","journal-title":"Am. J. Hum. Genet."}],"updated-by":[{"DOI":"10.1016\/j.ajhg.2016.11.001","type":"erratum","label":"Erratum","source":"publisher","updated":{"date-parts":[[2016,12,1]],"date-time":"2016-12-01T00:00:00Z","timestamp":1480550400000}}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929716303391?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929716303391?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2022,7,9]],"date-time":"2022-07-09T10:58:46Z","timestamp":1657364326000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929716303391"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,10]]},"references-count":70,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2016,10]]}},"alternative-id":["S0002929716303391"],"URL":"https:\/\/doi.org\/10.1016\/j.ajhg.2016.08.014","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2016,10]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number","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.2016.08.014","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2016 The Author(s).","name":"copyright","label":"Copyright"}]}}