{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,9]],"date-time":"2026-01-09T00:17:42Z","timestamp":1767917862225,"version":"3.49.0"},"reference-count":20,"publisher":"Springer Science and Business Media LLC","issue":"7","license":[{"start":{"date-parts":[[2009,4,17]],"date-time":"2009-04-17T00:00:00Z","timestamp":1239926400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Hum Genet"],"published-print":{"date-parts":[[2009,7]]},"DOI":"10.1038\/jhg.2009.36","type":"journal-article","created":{"date-parts":[[2009,4,17]],"date-time":"2009-04-17T09:18:14Z","timestamp":1239959894000},"page":"419-421","source":"Crossref","is-referenced-by-count":11,"title":["Mutation analysis of COX18 in 29 patients with isolated cytochrome c oxidase deficiency"],"prefix":"10.1038","volume":"54","author":[{"given":"Sabrina","family":"Sacconi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leonardo","family":"Salviati","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eva","family":"Trevisson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2009,4,17]]},"reference":[{"key":"BFjhg200936_CR1","doi-asserted-by":"publisher","first-page":"12819","DOI":"10.1073\/pnas.95.22.12819","volume":"95","author":"H Michel","year":"1998","unstructured":"Michel, H. The mechanism of proton pumping by cytochrome c oxidase. Proc. Natl. Acad. Sci. USA 95, 12819\u201312824 (1998).","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"BFjhg200936_CR2","doi-asserted-by":"publisher","first-page":"97","DOI":"10.1016\/j.bbamcr.2008.05.003","volume":"1793","author":"A Barrientos","year":"2009","unstructured":"Barrientos, A., Gouget, K., Horn, D., Soto, I. C., Fontanesi, F. Suppression mechanisms of COX assembly defects in yeast and human: insights into the COX assembly process. Biochim. Biophys. Acta. 1793, 97\u2013107 (2009).","journal-title":"Biochim. Biophys. Acta."},{"key":"BFjhg200936_CR3","doi-asserted-by":"publisher","first-page":"46","DOI":"10.1002\/ajmg.1378","volume":"106","author":"EA Shoubridge","year":"2001","unstructured":"Shoubridge, E. A. Cytochrome c oxidase deficiency. Am. J. Med. Genet. 106, 46\u201352 (2001).","journal-title":"Am. J. Med. Genet."},{"key":"BFjhg200936_CR4","doi-asserted-by":"publisher","first-page":"1281","DOI":"10.1016\/j.ajhg.2008.05.002","volume":"82","author":"V Massa","year":"2008","unstructured":"Massa, V., Fernandez-Vizarra, E., Alshahwan, S., Bakhsh, E., Goffrini, P., Ferrero, I. et al. Severe infantile encephalomyopathy caused by a mutation in COX6B1, a nucleus-encoded subunit of cytochrome c oxidase. Am. J. Hum. Genet. 82, 1281\u20131289 (2008).","journal-title":"Am. J. Hum. Genet."},{"key":"BFjhg200936_CR5","doi-asserted-by":"publisher","first-page":"21","DOI":"10.1203\/01.pdr.0000190572.68191.13","volume":"59","author":"M Bohm","year":"2006","unstructured":"Bohm, M., Pronicka, E., Karczmarewicz, E., Pronicki, M., Piekutowska-Abramczuk, D., Sykut-Cegielska, J. et al. Retrospective, multicentric study of 180 children with cytochrome c oxidase deficiency. Pediatr. Res. 59, 21\u201326 (2006).","journal-title":"Pediatr. Res."},{"key":"BFjhg200936_CR6","doi-asserted-by":"publisher","first-page":"605","DOI":"10.1073\/pnas.242716699","volume":"100","author":"VK Mootha","year":"2003","unstructured":"Mootha, V. K., Lepage, P., Miller, K., Bunkenborg, J., Reich, M., Hjerrild, M. et al. Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics. Proc. Natl Acad. Sci. USA 100, 605\u2013610 (2003).","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"BFjhg200936_CR7","doi-asserted-by":"publisher","first-page":"224","DOI":"10.1203\/00006450-200302000-00005","volume":"53","author":"S Sacconi","year":"2003","unstructured":"Sacconi, S., Salviati, L., Sue, C. M., Shanske, S., Davidson, M. M., Bonilla, E. et al. Mutation screening in patients with isolated cytochrome c oxidase deficiency. Pediatr. Res. 53, 224\u2013230 (2003).","journal-title":"Pediatr. Res."},{"key":"BFjhg200936_CR8","doi-asserted-by":"publisher","first-page":"508","DOI":"10.1177\/08830738060210062501","volume":"21","author":"MJ Coenen","year":"2006","unstructured":"Coenen, M. J., Smeitink, J. A., Pots, J. M., van Kaauwen, E., Trijbels, F. J., Hol, F. A. et al. Sequence analysis of the structural nuclear encoded subunits and assembly genes of cytochrome c oxidase in a cohort of 10 isolated complex IV-deficient patients revealed five mutations. J. Child Neurol. 21, 508\u2013511 (2006).","journal-title":"J. Child Neurol."},{"key":"BFjhg200936_CR9","doi-asserted-by":"publisher","first-page":"832","DOI":"10.1016\/j.bbrc.2005.09.127","volume":"337","author":"S Sacconi","year":"2005","unstructured":"Sacconi, S., Trevisson, E., Pistollato, F., Baldoin, M. C., Rezzonico, R., Bourget, I. et al. hCOX18 and hCOX19: two human genes involved in cytochrome c oxidase assembly. Biochem. Biophys. Res. Commun. 337, 832\u2013839 (2005).","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"BFjhg200936_CR10","doi-asserted-by":"publisher","first-page":"510","DOI":"10.1016\/j.tcb.2003.08.005","volume":"13","author":"A Kuhn","year":"2003","unstructured":"Kuhn, A., Stuart, R., Henry, R. & Dalbey, R. E. The Alb3\/Oxa1\/YidC protein family: membrane-localized chaperones facilitating membrane protein insertion? Trends Cell Biol. 13, 510\u2013516 (2003).","journal-title":"Trends Cell Biol."},{"key":"BFjhg200936_CR11","doi-asserted-by":"publisher","first-page":"14898","DOI":"10.1074\/jbc.275.20.14898","volume":"275","author":"RL Souza","year":"2000","unstructured":"Souza, R. L., Green-Willms, N. S., Fox, T. D., Tzagoloff, A. & Nobrega, F. G. Cloning and characterization of COX18, a Saccharomyces cerevisiae PET gene required for the assembly of cytochrome oxidase. J. Biol. Chem. 275, 14898\u201314902 (2000).","journal-title":"J. Biol. Chem."},{"key":"BFjhg200936_CR12","doi-asserted-by":"publisher","first-page":"869","DOI":"10.1111\/j.1567-1364.2006.00083.x","volume":"6","author":"M Gaisne","year":"2006","unstructured":"Gaisne, M. & Bonnefoy, N. The COX18 gene, involved in mitochondrial biogenesis, is functionally conserved and tightly regulated in humans and fission yeast. FEMS Yeast Res. 6, 869\u2013882 (2006).","journal-title":"FEMS Yeast Res."},{"key":"BFjhg200936_CR13","doi-asserted-by":"publisher","first-page":"311","DOI":"10.1002\/ana.10284","volume":"52","author":"L Salviati","year":"2002","unstructured":"Salviati, L., Sacconi, S., Mancuso, M., Otaegui, D., Camano, P., Marina, A. et al. Mitochondrial DNA depletion and dGK gene mutations. Ann. Neurol. 52, 311\u2013317 (2002).","journal-title":"Ann. Neurol."},{"key":"BFjhg200936_CR14","doi-asserted-by":"publisher","first-page":"1771","DOI":"10.1128\/MCB.00287-06","volume":"27","author":"UD Vempati","year":"2007","unstructured":"Vempati, U. D., Diaz, F., Barrientos, A., Narisawa, S., Mian, A. M., Millan, J. L. et al. Role of cytochrome c in apoptosis: increased sensitivity to tumor necrosis factor alpha is associated with respiratory defects but not with lack of cytochrome c release. Mol. Cell Biol. 27, 1771\u20131783 (2007).","journal-title":"Mol. Cell Biol."},{"key":"BFjhg200936_CR15","doi-asserted-by":"publisher","first-page":"2693","DOI":"10.1093\/hmg\/ddg284","volume":"12","author":"H Antonicka","year":"2003","unstructured":"Antonicka, H., Leary, S. C., Guercin, G. H., Agar, J. N., Horvath, R., Kennaway, N. G. et al. Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early-onset clinical phenotypes associated with isolated COX deficiency. Hum. Mol. Genet. 12, 2693\u20132702 (2003).","journal-title":"Hum. Mol. Genet."},{"key":"BFjhg200936_CR16","doi-asserted-by":"publisher","first-page":"e28","DOI":"10.1136\/jmg.2004.029926","volume":"42","author":"M Bugiani","year":"2005","unstructured":"Bugiani, M., Tiranti, V., Farina, L., Uziel, G. & Zeviani, M. Novel mutations in COX15 in a long surviving Leigh syndrome patient with cytochrome c oxidase deficiency. J. Med. Genet. 42, e28 (2005).","journal-title":"J. Med. Genet."},{"key":"BFjhg200936_CR17","doi-asserted-by":"publisher","first-page":"195","DOI":"10.1002\/ajmg.a.30073","volume":"128A","author":"L Salviati","year":"2004","unstructured":"Salviati, L., Freehauf, C., Sacconi, S., DiMauro, S., Thoma, J. & Tsai, A. C. Novel SURF1 mutation in a child with subacute encephalopathy and without the radiological features of Leigh Syndrome. Am. J. Med. Genet. A 128A, 195\u2013198 (2004).","journal-title":"Am. J. Med. Genet. A"},{"key":"BFjhg200936_CR18","doi-asserted-by":"publisher","first-page":"670","DOI":"10.1177\/08830738050200080701","volume":"20","author":"SK Tay","year":"2005","unstructured":"Tay, S. K., Sacconi, S., Akman, H. O., Morales, J. F., Morales, A., De Vivo, D. C. et al. Unusual clinical presentations in four cases of Leigh disease, cytochrome c oxidase deficiency, and SURF1 gene mutations. J. Child Neurol. 20, 670\u2013674 (2005).","journal-title":"J. Child Neurol."},{"key":"BFjhg200936_CR19","doi-asserted-by":"publisher","first-page":"337","DOI":"10.1038\/3804","volume":"20","author":"Z Zhu","year":"1998","unstructured":"Zhu, Z., Yao, J., Johns, T., Fu, K., De Bie, I., Macmillan, C. et al. SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome. Nat. Genet. 20, 337\u2013343 (1998).","journal-title":"Nat. Genet."},{"key":"BFjhg200936_CR20","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1128\/MMBR.54.3.211-225.1990","volume":"54","author":"A Tzagoloff","year":"1990","unstructured":"Tzagoloff, A. & Dieckmann, C. L. PET genes of Saccharomyces cerevisiae. Microbiol. Rev. 54, 211\u2013225 (1990).","journal-title":"Microbiol. Rev."}],"container-title":["Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/jhg200936.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/jhg200936","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/jhg200936.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T17:25:56Z","timestamp":1684430756000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/jhg200936"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,4,17]]},"references-count":20,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2009,7]]}},"alternative-id":["BFjhg200936"],"URL":"https:\/\/doi.org\/10.1038\/jhg.2009.36","relation":{},"ISSN":["1434-5161","1435-232X"],"issn-type":[{"value":"1434-5161","type":"print"},{"value":"1435-232X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,4,17]]}}}