{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,14]],"date-time":"2026-02-14T00:28:45Z","timestamp":1771028925296,"version":"3.50.1"},"reference-count":26,"publisher":"Springer Science and Business Media LLC","issue":"8","license":[{"start":{"date-parts":[[2013,6,13]],"date-time":"2013-06-13T00:00:00Z","timestamp":1371081600000},"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":[[2013,8]]},"DOI":"10.1038\/jhg.2013.45","type":"journal-article","created":{"date-parts":[[2013,6,13]],"date-time":"2013-06-13T06:16:32Z","timestamp":1371104192000},"page":"526-530","source":"Crossref","is-referenced-by-count":31,"title":["The novel mutation p.Asp251Asn in the \u03b2-subunit of succinate-CoA ligase causes encephalomyopathy and elevated succinylcarnitine"],"prefix":"10.1038","volume":"58","author":[{"given":"Elham","family":"Jaberi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fereshteh","family":"Chitsazian","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gholam","family":"Ali Shahidi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohammad","family":"Rohani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Farzad","family":"Sina","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Iman","family":"Safari","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maryam","family":"Malakouti Nejad","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masoud","family":"Houshmand","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Brandy","family":"Klotzle","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elahe","family":"Elahi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2013,6,13]]},"reference":[{"key":"BFjhg201345_CR1","doi-asserted-by":"publisher","first-page":"94","DOI":"10.1002\/ajmg.1426","volume":"106","author":"PF Chinnery","year":"2001","unstructured":"Chinnery, P. F. & Turnbull, D. M. Epidemiology and treatment of mitochondrial disorders. Am. J. Med. Genet. 106, 94\u2013101 (2001).","journal-title":"Am. J. Med. Genet."},{"key":"BFjhg201345_CR2","doi-asserted-by":"publisher","first-page":"2153","DOI":"10.1093\/brain\/awh259","volume":"127","author":"M Zeviani","year":"2004","unstructured":"Zeviani, M. & Di Donato, S. Mitochondrial disorders. Brain 127, 2153\u20132172 (2004).","journal-title":"Brain"},{"key":"BFjhg201345_CR3","doi-asserted-by":"publisher","first-page":"2080","DOI":"10.1056\/NEJMoa041878","volume":"351","author":"MJ Coenen","year":"2004","unstructured":"Coenen, M. J., Antonicka, H., Ugalde, C., Sasarman, F., Rossi, R., Heister, J. G. et al. Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiency. N. Engl. J. Med. 351, 2080\u20132086 (2004).","journal-title":"N. Engl. J. Med."},{"key":"BFjhg201345_CR4","doi-asserted-by":"publisher","first-page":"44","DOI":"10.1086\/510559","volume":"80","author":"L Valente","year":"2007","unstructured":"Valente, L., Tiranti, V., Marsano, R. M., Malfatti, E., Fernandez-Vizarra, E., Donnini, C. et al. Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu. Am. J. Hum. Genet. 80, 44\u201358 (2007).","journal-title":"Am. J. Hum. Genet."},{"key":"BFjhg201345_CR5","doi-asserted-by":"publisher","first-page":"519","DOI":"10.1055\/s-0031-1299790","volume":"31","author":"RL Davis","year":"2011","unstructured":"Davis, R. L. & Sue, C. M. The genetics of mitochondrial disease. Semin Neurol. 31, 519\u2013530 (2011).","journal-title":"Semin Neurol."},{"key":"BFjhg201345_CR6","doi-asserted-by":"publisher","first-page":"17","DOI":"10.1007\/978-1-61779-504-6_2","volume":"837","author":"F Scaglia","year":"2012","unstructured":"Scaglia, F. Nuclear gene defects in mitochondrial disorders. Methods Mol. Biol. 837, 17\u201334 (2012).","journal-title":"Methods Mol. Biol."},{"key":"BFjhg201345_CR7","doi-asserted-by":"publisher","first-page":"64","DOI":"10.3109\/10409238.2011.632763","volume":"47","author":"WC Copeland","year":"2012","unstructured":"Copeland, W. C. Defects in mitochondrial DNA replication and human disease. Crit. Rev. Biochem. Mol. Biol. 47, 64\u201374 (2012).","journal-title":"Crit. Rev. Biochem. Mol. Biol."},{"key":"BFjhg201345_CR8","doi-asserted-by":"publisher","first-page":"1081","DOI":"10.1086\/430843","volume":"76","author":"O Elpeleg","year":"2005","unstructured":"Elpeleg, O., Miller, C., Hershkovitz, E., Bitner-Glindzicz, M., Bondi-Rubinstein, G., Rahman, S. et al. Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion. Am. J. Hum. Genet. 76, 1081\u20131086 (2005).","journal-title":"Am. J. Hum. Genet."},{"key":"BFjhg201345_CR9","doi-asserted-by":"publisher","first-page":"174","DOI":"10.1111\/j.1365-2796.2008.02059.x","volume":"265","author":"A Spinazzola","year":"2009","unstructured":"Spinazzola, A. & Zeviani, M. Disorders from perturbations of nuclear-mitochondrial intergenomic cross-talk. J. Intern. Med. 265, 174\u2013192 (2009).","journal-title":"J. Intern. Med."},{"key":"BFjhg201345_CR10","doi-asserted-by":"publisher","first-page":"27580","DOI":"10.1074\/jbc.273.42.27580","volume":"273","author":"JD Johnson","year":"1998","unstructured":"Johnson, J. D., Mehus, J. G., Tews, K., Milavetz, B. I. & Lambeth, D. O. Genetic evidence for the expression of ATP- and GTP-specific succinyl-CoA synthetases in multicellular eucaryotes. J. Biol. Chem. 273, 27580\u201327586 (1998).","journal-title":"J. Biol. Chem."},{"key":"BFjhg201345_CR11","doi-asserted-by":"publisher","first-page":"8","DOI":"10.1016\/S0968-0004(98)01335-8","volume":"24","author":"CJ Jeffery","year":"1999","unstructured":"Jeffery, C. J. Moonlighting proteins. Trends Biochem. Sci. 24, 8\u201311 (1999).","journal-title":"Trends Biochem. Sci."},{"key":"BFjhg201345_CR12","doi-asserted-by":"publisher","first-page":"406","DOI":"10.1038\/ng849","volume":"30","author":"IP Tomlinson","year":"2002","unstructured":"Tomlinson, I. P., Alam, N. A., Rowan, A. J., Barclay, E., Jaeger, E. E., Kelsell, D. et al. Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer. Nat. Genet. 30, 406\u2013410 (2002).","journal-title":"Nat. Genet."},{"key":"BFjhg201345_CR13","doi-asserted-by":"publisher","first-page":"625","DOI":"10.1016\/j.bbadis.2011.01.013","volume":"1812","author":"C Miller","year":"2011","unstructured":"Miller, C., Wang, L., Ostergaard, E., Dan, P. & Saada, A. The interplay between SUCLA2, SUCLG2, and mitochondrial DNA depletion. Biochim. Biophys. Acta 1812, 625\u2013629 (2011).","journal-title":"Biochim. Biophys. Acta"},{"key":"BFjhg201345_CR14","doi-asserted-by":"publisher","first-page":"36621","DOI":"10.1074\/jbc.M406884200","volume":"279","author":"DO Lambeth","year":"2004","unstructured":"Lambeth, D. O., Tews, K. N., Adkins, S., Frohlich, D. & Milavetz, B. I. Expression of two succinyl-CoA synthetases with different nucleotide specificities in mammalian tissues. J Biol Chem. 279, 36621\u201336624 (2004).","journal-title":"J Biol Chem."},{"key":"BFjhg201345_CR15","doi-asserted-by":"publisher","first-page":"201","DOI":"10.1007\/s00431-009-1007-z","volume":"169","author":"E Ostergaard","year":"2010","unstructured":"Ostergaard, E., Schwartz, M., Batbayli, M., Christensen, E., Hjalmarson, O., Kollberg, G. et al. A novel missense mutation in SUCLG1 associated with mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria. Eur. J. Pediatr. 169, 201\u2013205 (2010).","journal-title":"Eur. J. Pediatr."},{"key":"BFjhg201345_CR16","doi-asserted-by":"publisher","first-page":"5883","DOI":"10.1073\/pnas.91.13.5883","volume":"91","author":"A Kavanaugh-Black","year":"1994","unstructured":"Kavanaugh-Black, A., Connolly, D. M., Chugani, S. A. & Chakrabarty, A. M. Characterization of nucleoside-diphosphate kinase from Pseudomonas aeruginosa: complex formation with succinyl-CoA synthetase. Proc. Natl. Acad. Sci. USA 91, 5883\u20135887 (1994).","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"BFjhg201345_CR17","doi-asserted-by":"publisher","first-page":"160","DOI":"10.1006\/abbi.2001.2710","volume":"398","author":"A Kowluru","year":"2002","unstructured":"Kowluru, A., Tannous, M. & Chen, H. Q. Localization and characterization of the mitochondrial isoform of the nucleoside diphosphate kinase in the pancreatic beta cell: evidence for its complexation with mitochondrial succinyl-CoA synthetase. Arch. Biochem. Biophys. 398, 160\u2013169 (2002).","journal-title":"Arch. Biochem. Biophys."},{"key":"BFjhg201345_CR18","doi-asserted-by":"publisher","first-page":"185","DOI":"10.1016\/S0925-4439(97)00035-5","volume":"1361","author":"P Rustin","year":"1997","unstructured":"Rustin, P., Bourgeron, T., Parfait, B., Chretien, D., Munnich, A. & Rotig, A. Inborn errors of the Krebs cycle: a group of unusual mitochondrial diseases in human. Biochim. Biophys. Acta 1361, 185\u2013197 (1997).","journal-title":"Biochim. Biophys. Acta"},{"key":"BFjhg201345_CR19","doi-asserted-by":"publisher","first-page":"853","DOI":"10.1093\/brain\/awl383","volume":"130","author":"E Ostergaard","year":"2007","unstructured":"Ostergaard, E., Hansen, F. J., Sorensen, N., Duno, M., Vissing, J., Larsen, P. L. et al. Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations. Brain 130, 853\u2013861 (2007).","journal-title":"Brain"},{"key":"BFjhg201345_CR20","doi-asserted-by":"publisher","first-page":"862","DOI":"10.1093\/brain\/awl389","volume":"130","author":"R Carrozzo","year":"2007","unstructured":"Carrozzo, R., Dionisi-Vici, C., Steuerwald, U., Lucioli, S., Deodato, F., Di Giandomenico, S. et al. SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness. Brain 130, 862\u2013874 (2007).","journal-title":"Brain"},{"key":"BFjhg201345_CR21","doi-asserted-by":"publisher","first-page":"403","DOI":"10.1016\/j.ymgme.2012.08.020","volume":"107","author":"C Lamperti","year":"2012","unstructured":"Lamperti, C., Fang, M., Invernizzi, F., Liu, X., Wang, H., Zhang, Q. et al. A novel homozygous mutation in SUCLA2 gene identified by exome sequencing. Mol. Genet. Metab. 107, 403\u2013408 (2012).","journal-title":"Mol. Genet. Metab."},{"key":"BFjhg201345_CR22","doi-asserted-by":"publisher","first-page":"779","DOI":"10.1006\/jmbi.1993.1626","volume":"234","author":"A Sali","year":"1993","unstructured":"Sali, A. & Blundell, T. L. Comparative protein modelling by satisfaction of spatial restraints. J. Mol. Biol. 234, 779\u2013815 (1993).","journal-title":"J. Mol. Biol."},{"key":"BFjhg201345_CR23","doi-asserted-by":"publisher","first-page":"1701","DOI":"10.1002\/jcc.20291","volume":"26","author":"D Van Der Spoel","year":"2005","unstructured":"Van Der Spoel, D., Lindahl, E., Hess, B., Groenhof, G., Mark, A. E. & Berendsen, H. J. GROMACS: fast, flexible, and free. J. Comput. Chem. 26, 1701\u20131718 (2005).","journal-title":"J. Comput. Chem."},{"key":"BFjhg201345_CR24","doi-asserted-by":"publisher","first-page":"27","DOI":"10.1016\/0263-7855(96)00018-5","volume":"14","author":"W Humphrey","year":"1996","unstructured":"Humphrey, W., Dalke, A. & Schulten, K. VMD: visual molecular dynamics. J. Mol. Graph. 14, 27\u201338 (1996).","journal-title":"J. Mol. Graph."},{"key":"BFjhg201345_CR25","doi-asserted-by":"publisher","first-page":"143","DOI":"10.1007\/s10545-008-1038-z","volume":"32","author":"A Spinazzola","year":"2009","unstructured":"Spinazzola, A., Invernizzi, F., Carrara, F., Lamantea, E., Donati, A., Dirocco, M. et al. Clinical and molecular features of mitochondrial DNA depletion syndromes. J. Inherit. Metab. Dis. 32, 143\u2013158 (2009).","journal-title":"J. Inherit. Metab. Dis."},{"key":"BFjhg201345_CR26","doi-asserted-by":"publisher","first-page":"670","DOI":"10.1136\/jmg.2009.073445","volume":"47","author":"C Rouzier","year":"2010","unstructured":"Rouzier, C., Le Guedard-Mereuze, S., Fragaki, K., Serre, V., Miro, J., Tuffery-Giraud, S. et al. The severity of phenotype linked to SUCLG1 mutations could be correlated with residual amount of SUCLG1 protein. J. Med. Genet. 47, 670\u2013676 (2010).","journal-title":"J. Med. Genet."}],"container-title":["Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/jhg201345.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/jhg201345","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/jhg201345.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T17:31:49Z","timestamp":1684431109000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/jhg201345"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,6,13]]},"references-count":26,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2013,8]]}},"alternative-id":["BFjhg201345"],"URL":"https:\/\/doi.org\/10.1038\/jhg.2013.45","relation":{},"ISSN":["1434-5161","1435-232X"],"issn-type":[{"value":"1434-5161","type":"print"},{"value":"1435-232X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,6,13]]}}}