{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,12]],"date-time":"2026-09-12T02:15:58Z","timestamp":1789179358921,"version":"build-2803163510"},"reference-count":19,"publisher":"American Society for Clinical Investigation","issue":"13","license":[{"start":{"date-parts":[[2022,7,1]],"date-time":"2022-07-01T00:00:00Z","timestamp":1656633600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"U.S. Department of Defense","award":["W81XWH2010807"],"award-info":[{"award-number":["W81XWH2010807"]}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"crossref","award":["P01 HD32062"],"award-info":[{"award-number":["P01 HD32062"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"crossref","award":["R35 GM139453"],"award-info":[{"award-number":["R35 GM139453"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Arturo Estopinan TK2 Research Fund","award":["NA"],"award-info":[{"award-number":["NA"]}]},{"name":"Nicholas Nunno Foundation","award":["NA"],"award-info":[{"award-number":["NA"]}]},{"name":"JDM Fund for Mitochondrial Research","award":["NA"],"award-info":[{"award-number":["NA"]}]},{"name":"Shuman Mitochondrial Disease Fund","award":["NA"],"award-info":[{"award-number":["NA"]}]},{"DOI":"10.13039\/100015138","name":"J. Willard and Alice S. Marriott Foundation","doi-asserted-by":"crossref","award":["NA"],"award-info":[{"award-number":["NA"]}],"id":[{"id":"10.13039\/100015138","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"crossref","award":["U54 NS078059"],"award-info":[{"award-number":["U54 NS078059"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Wellcome Centre for Mitochondrial Research","award":["203105\/Z\/16\/Z"],"award-info":[{"award-number":["203105\/Z\/16\/Z"]}]},{"name":"Medical Research Council","award":["MR\/S005021\/1"],"award-info":[{"award-number":["MR\/S005021\/1"]}]},{"DOI":"10.13039\/501100022186","name":"Lily Foundation","doi-asserted-by":"crossref","award":["NA"],"award-info":[{"award-number":["NA"]}],"id":[{"id":"10.13039\/501100022186","id-type":"DOI","asserted-by":"crossref"}]},{"name":"UK National Health Service","award":["NA"],"award-info":[{"award-number":["NA"]}]},{"name":"National Science Foundation","award":["ACI-1548562"],"award-info":[{"award-number":["ACI-1548562"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,7,1]]},"DOI":"10.1172\/jci145660","type":"journal-article","created":{"date-parts":[[2022,5,26]],"date-time":"2022-05-26T16:01:10Z","timestamp":1653580870000},"source":"Crossref","is-referenced-by-count":17,"title":["RRM1 variants cause a mitochondrial DNA maintenance disorder via impaired de novo nucleotide synthesis"],"prefix":"10.1172","volume":"132","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2729-9009","authenticated-orcid":false,"given":"Jonathan","family":"Shintaku","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9176-621X","authenticated-orcid":false,"given":"Wolfgang M.","family":"Pernice","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wafaa","family":"Eyaid","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeevan B.","family":"GC","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9846-2822","authenticated-orcid":false,"given":"Zuben P.","family":"Brown","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4566-7154","authenticated-orcid":false,"given":"Marti","family":"Juanola-Falgarona","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6092-9458","authenticated-orcid":false,"given":"Javier","family":"Torres-Torronteras","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ewen W.","family":"Sommerville","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Debby M.E.I.","family":"Hellebrekers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emma L.","family":"Blakely","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9193-4172","authenticated-orcid":false,"given":"Alan","family":"Donaldson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ingrid","family":"van de Laar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0301-8316","authenticated-orcid":false,"given":"Cheng-Shiun","family":"Leu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8273-9540","authenticated-orcid":false,"given":"Ramon","family":"Marti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joachim","family":"Frank","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kurenai","family":"Tanji","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2152-4626","authenticated-orcid":false,"given":"David A.","family":"Koolen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5227-3527","authenticated-orcid":false,"given":"Richard J.","family":"Rodenburg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick F.","family":"Chinnery","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3859-8522","authenticated-orcid":false,"given":"H.J.M.","family":"Smeets","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7585-3409","authenticated-orcid":false,"given":"Gr\u00e1inne S.","family":"Gorman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5581-5301","authenticated-orcid":false,"given":"Penelope E.","family":"Bonnen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7768-8873","authenticated-orcid":false,"given":"Robert W.","family":"Taylor","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7070-7402","authenticated-orcid":false,"given":"Michio","family":"Hirano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"232","published-online":{"date-parts":[[2022,7,1]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","DOI":"10.1038\/nrneurol.2013.126"},{"key":"B2","doi-asserted-by":"publisher","DOI":"10.1126\/science.283.5402.689"},{"key":"B3","doi-asserted-by":"publisher","DOI":"10.2169\/internalmedicine.45.6064"},{"key":"B4","doi-asserted-by":"publisher","DOI":"10.1038\/ng746"},{"key":"B5","doi-asserted-by":"publisher","DOI":"10.1086\/430843"},{"key":"B6","doi-asserted-by":"publisher","DOI":"10.1086\/519222"},{"key":"B7","doi-asserted-by":"publisher","DOI":"10.1038\/ng751"},{"key":"B8","doi-asserted-by":"publisher","DOI":"10.1016\/j.cmet.2015.02.008"},{"key":"B9","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13652"},{"key":"B10","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkv047"},{"key":"B11","doi-asserted-by":"publisher","DOI":"10.1016\/j.semcdb.2014.03.030"},{"key":"B12","doi-asserted-by":"publisher","DOI":"10.1038\/ng2040"},{"key":"B13","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btv195"},{"issue":"web server issue","key":"B14","doi-asserted-by":"crossref","first-page":"W452","DOI":"10.1093\/nar\/gks539","article-title":"SIFT web server: predicting effects of amino acid substitutions on proteins","volume":"40","author":"Sim","year":"2012","journal-title":"Nucleic Acids Res"},{"key":"B15","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0600443103"},{"key":"B16","doi-asserted-by":"publisher","DOI":"10.1038\/nsmb.2007"},{"key":"B17","doi-asserted-by":"publisher","DOI":"10.1016\/j.jmb.2012.03.014"},{"key":"B18","doi-asserted-by":"publisher","DOI":"10.1002\/pro.2230"},{"key":"B19","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1006628"}],"container-title":["Journal of Clinical Investigation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.jci.org\/articles\/view\/145660\/files\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,3]],"date-time":"2023-08-03T17:39:09Z","timestamp":1691084349000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.jci.org\/articles\/view\/145660"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,7,1]]},"references-count":19,"journal-issue":{"issue":"13","published-online":{"date-parts":[[2022,7,1]]},"published-print":{"date-parts":[[2022,7,1]]}},"alternative-id":["10.1172\/JCI145660"],"URL":"https:\/\/doi.org\/10.1172\/jci145660","relation":{},"ISSN":["1558-8238"],"issn-type":[{"value":"1558-8238","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,7,1]]},"article-number":"e145660"}}