{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T14:04:46Z","timestamp":1791295486744,"version":"4.1.0"},"reference-count":27,"publisher":"Wiley","issue":"S3","license":[{"start":{"date-parts":[[2009,1,26]],"date-time":"2009-01-26T00:00:00Z","timestamp":1232928000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2010,12]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>The oxidative phosphorylation (OXPHOS) system, comprising five enzyme complexes, is located in the inner membrane of mitochondria and is the final biochemical pathway in oxidative ATP production. Defects in this energy\u2010generating system can cause a wide range of clinical symptoms; these diseases are often progressive and multisystemic. Numerous genes have been implicated in OXPHOS deficiencies and many mutations have been described. However, in a substantial number of patients with decreased enzyme activities of two or more OXPHOS complexes, no mutations in the mitochondrial DNA or in nuclear genes known to be involved in these disorders have been found. In this study, four nuclear candidate genes\u2014<jats:italic>NIPSNAP1<\/jats:italic>, <jats:italic>GBAS<\/jats:italic>, <jats:italic>CHCHD1<\/jats:italic> and <jats:italic>METT11D1<\/jats:italic>\u2014were screened for mutations in 22 patients with a combined enzymatic deficiency of primarily the OXPHOS complexes I, III and IV to determine whether a mutation in one of these genes could explain the mitochondrial disorder. For each variant not yet reported as a polymorphism, 100 control samples were screened for the presence of the variant. This way we identified 14 new polymorphisms and 2 presumably non\u2010pathogenic mutations. No mutations were found that could explain the mitochondrial disorder in the patients investigated in this study. Therefore, the genetic defect in these patients must be located in other nuclear genes involved in mtDNA maintenance, transcription or translation, in import, processing or degradation of nuclear encoded mitochondrial proteins, or in assembly of the OXPHOS system.<\/jats:p>","DOI":"10.1007\/s10545-009-0968-4","type":"journal-article","created":{"date-parts":[[2009,1,23]],"date-time":"2009-01-23T21:22:30Z","timestamp":1232745750000},"page":"13-19","source":"Crossref","is-referenced-by-count":19,"title":["Sequence variants in four candidate genes (<i>NIPSNAP1<\/i>, <i>GBAS<\/i>, <i>CHCHD1<\/i> and <i>METT11D1<\/i>) in patients with combined oxidative phosphorylation system deficiencies"],"prefix":"10.1002","volume":"33","author":[{"given":"P.","family":"Smits","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Nijmegen Centre for Mitochondrial Disorders Radboud University Nijmegen Medical Centre PO Box 9101 Geert Grooteplein 10 Nijmegen 6500 HB The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R. J.","family":"Rodenburg","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Nijmegen Centre for Mitochondrial Disorders Radboud University Nijmegen Medical Centre PO Box 9101 Geert Grooteplein 10 Nijmegen 6500 HB The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. A. M.","family":"Smeitink","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Nijmegen Centre for Mitochondrial Disorders Radboud University Nijmegen Medical Centre PO Box 9101 Geert Grooteplein 10 Nijmegen 6500 HB The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L. P.","family":"den van Heuvel","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Nijmegen Centre for Mitochondrial Disorders Radboud University Nijmegen Medical Centre PO Box 9101 Geert Grooteplein 10 Nijmegen 6500 HB The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2009,1,26]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ygeno.2003.12.011"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1086\/421530"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrg1708"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa041878"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M304940200"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1086\/521227"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.200609158"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddl233"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1258\/000456303321016114"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.289.5480.782"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1462-5822.2002.00225.x"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(200002)15:2<123::AID-HUMU1>3.0.CO;2-P"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.20282"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/16.3.1215"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(03)00926-7"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1023\/B:BOLI.0000005605.57420.b4"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2007.053116"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.283.5407.1488"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1356-9597.2001.00505.x"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbabio.2004.09.005"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00424-008-0494-5"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0378-1119(98)00098-5"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1010743321800"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1086\/508434"},{"key":"e_1_2_6_26_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkm441"},{"key":"e_1_2_6_27_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1998.5239"},{"key":"e_1_2_6_28_1","doi-asserted-by":"publisher","DOI":"10.1097\/WCO.0b013e3282ef58cd"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-009-0968-4","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T06:24:11Z","timestamp":1694759051000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-009-0968-4"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,1,26]]},"references-count":27,"journal-issue":{"issue":"S3","published-print":{"date-parts":[[2010,12]]}},"alternative-id":["10.1007\/s10545-009-0968-4"],"URL":"https:\/\/doi.org\/10.1007\/s10545-009-0968-4","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,1,26]]}}}