{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,21]],"date-time":"2026-06-21T01:54:13Z","timestamp":1782006853512,"version":"3.54.5"},"reference-count":45,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2014,9,1]],"date-time":"2014-09-01T00:00:00Z","timestamp":1409529600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"funder":[{"name":"Telethon-Mitocon Project","award":["GUP09004"],"award-info":[{"award-number":["GUP09004"]}]},{"name":"Ricerca Corrente","award":["201302G002980"],"award-info":[{"award-number":["201302G002980"]}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Mitochondrion"],"published-print":{"date-parts":[[2014,9]]},"DOI":"10.1016\/j.mito.2014.09.006","type":"journal-article","created":{"date-parts":[[2014,9,22]],"date-time":"2014-09-22T01:30:18Z","timestamp":1411349418000},"page":"49-57","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":57,"special_numbering":"C","title":["Riboflavin responsive mitochondrial myopathy is a new phenotype of dihydrolipoamide dehydrogenase deficiency. The chaperon-like effect of vitamin B2"],"prefix":"10.1016","volume":"18","author":[{"given":"Rosalba","family":"Carrozzo","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandra","family":"Torraco","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giuseppe","family":"Fiermonte","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diego","family":"Martinelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michela","family":"Di Nottia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Teresa","family":"Rizza","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angelo","family":"Vozza","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniela","family":"Verrigni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daria","family":"Diodato","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovanni","family":"Parisi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arianna","family":"Maiorana","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristiano","family":"Rizzo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ciro Leonardo","family":"Pierri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefania","family":"Zucano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fiorella","family":"Piemonte","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Enrico","family":"Bertini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlo","family":"Dionisi-Vici","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"15","key":"10.1016\/j.mito.2014.09.006_bb0005","doi-asserted-by":"crossref","first-page":"2984","DOI":"10.1093\/hmg\/ddr202","article-title":"Stimulation of reactive oxygen species generation by disease-causing mutations of lipoamide dehydrogenase","volume":"20","author":"Ambrus","year":"2011","journal-title":"Hum. Mol. Genet."},{"issue":"3","key":"10.1016\/j.mito.2014.09.006_bb0010","doi-asserted-by":"crossref","first-page":"482","DOI":"10.1016\/S0168-8278(98)80069-X","article-title":"Lipoamide dehydrogenase deficiency: a newly discovered cause of acute hepatitis in adults","volume":"29","author":"Barak","year":"1998","journal-title":"J. Hepatol."},{"issue":"1","key":"10.1016\/j.mito.2014.09.006_bb0015","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1016\/j.ymgme.2013.01.017","article-title":"Dihydrolipoamide dehydrogenase deficiency: a still overlooked cause of recurrent acute liver failure and Reye-like syndrome","volume":"109","author":"Brassier","year":"2013","journal-title":"Mol. Genet. Metab."},{"issue":"3","key":"10.1016\/j.mito.2014.09.006_bb0025","doi-asserted-by":"crossref","first-page":"543","DOI":"10.1016\/j.jmb.2005.05.014","article-title":"Crystal structure of human dihydrolipoamide dehydrogenase: NAD+\/NADH binding and the structural basis of disease-causing mutations","volume":"350","author":"Brautigam","year":"2005","journal-title":"J. Mol. Biol."},{"issue":"3","key":"10.1016\/j.mito.2014.09.006_bb0020","doi-asserted-by":"crossref","first-page":"611","DOI":"10.1016\/j.str.2006.01.001","article-title":"Structural insight into interactions between dihydrolipoamide dehydrogenase (E3) and E3 binding protein of human pyruvate dehydrogenase complex","volume":"14","author":"Brautigam","year":"2006","journal-title":"Structure"},{"issue":"2\u20133","key":"10.1016\/j.mito.2014.09.006_bb0030","doi-asserted-by":"crossref","first-page":"136","DOI":"10.1016\/j.bbabio.2004.09.006","article-title":"Clinical and molecular findings in children with complex I deficiency","volume":"1659","author":"Bugiani","year":"2004","journal-title":"Biochim. Biophys. Acta"},{"issue":"20","key":"10.1016\/j.mito.2014.09.006_bb0035","doi-asserted-by":"crossref","first-page":"5004","DOI":"10.1046\/j.1432-1033.2002.03204.x","article-title":"Inactivation of the 2-oxo acid dehydrogenase complexes upon generation of intrinsic radical species","volume":"269","author":"Bunik","year":"2002","journal-title":"Eur. J. Biochem."},{"issue":"14","key":"10.1016\/j.mito.2014.09.006_bb0040","doi-asserted-by":"crossref","first-page":"1542","DOI":"10.1002\/ajmg.a.31313","article-title":"Novel mutations in dihydrolipoamide dehydrogenase deficiency in two cousins with borderline-normal PDH complex activity","volume":"140","author":"Cameron","year":"2006","journal-title":"Am. J. Med. Genet. A"},{"issue":"2","key":"10.1016\/j.mito.2014.09.006_bb0045","doi-asserted-by":"crossref","first-page":"409","DOI":"10.1016\/0003-9861(89)90309-3","article-title":"Dihydrolipoamide dehydrogenase: functional similarities and divergent evolution of the pyridine nucleotide-disulfide oxidoreductases","volume":"268","author":"Carothers","year":"1989","journal-title":"Arch. Biochem. Biophys."},{"issue":"1","key":"10.1016\/j.mito.2014.09.006_bb0050","doi-asserted-by":"crossref","first-page":"648","DOI":"10.1074\/jbc.M507850200","article-title":"How dihydrolipoamide dehydrogenase-binding protein binds dihydrolipoamide dehydrogenase in the human pyruvate dehydrogenase complex","volume":"281","author":"Ciszak","year":"2006","journal-title":"J. Biol. Chem."},{"issue":"15","key":"10.1016\/j.mito.2014.09.006_bb0055","doi-asserted-by":"crossref","first-page":"3435","DOI":"10.1093\/hmg\/dds175","article-title":"Molecular mechanisms of riboflavin responsiveness in patients with ETF-QO variations and multiple acyl-CoA dehydrogenation deficiency","volume":"21","author":"Cornelius","year":"2012","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.mito.2014.09.006_bb0060","doi-asserted-by":"crossref","first-page":"11075","DOI":"10.1074\/jbc.275.15.11075","article-title":"Structure, functioning, and assembly of the ATP synthase in cells from patients with the T8993G mitochondrial DNA mutation. Comparison with the enzyme in Rho(0) cells completely lacking mtDNA","volume":"275","author":"Garcia","year":"2000","journal-title":"J. Biol. Chem."},{"issue":"9","key":"10.1016\/j.mito.2014.09.006_bb0065","doi-asserted-by":"crossref","first-page":"1177","DOI":"10.1001\/jamaneurol.2013.3197","article-title":"Mitochondrial encephalomyopathy due to a novel mutation in ACAD9","volume":"70","author":"Garone","year":"2013","journal-title":"JAMA Neurol."},{"issue":"Pt 1","key":"10.1016\/j.mito.2014.09.006_bb0070","doi-asserted-by":"crossref","first-page":"210","DOI":"10.1093\/brain\/awq273","article-title":"Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an old gene","volume":"134","author":"Gerards","year":"2011","journal-title":"Brain"},{"issue":"10","key":"10.1016\/j.mito.2014.09.006_bb0075","doi-asserted-by":"crossref","first-page":"714","DOI":"10.1007\/s00431-003-1282-z","article-title":"Leigh syndrome due to compound heterozygosity of dihydrolipoamide dehydrogenase gene mutations. Description of the first E3 splice site mutation","volume":"162","author":"Grafakou","year":"2003","journal-title":"Eur. J. Pediatr."},{"issue":"2","key":"10.1016\/j.mito.2014.09.006_bb0080","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1007\/s00431-013-2153-x","article-title":"Elevated plasma citrulline: look for dihydrolipoamide dehydrogenase deficiency","volume":"173","author":"Haviv","year":"2014","journal-title":"Eur. J. Pediatr."},{"issue":"7","key":"10.1016\/j.mito.2014.09.006_bb0085","doi-asserted-by":"crossref","first-page":"4222","DOI":"10.1074\/jbc.M805719200","article-title":"Role of flavinylation in a mild variant of multiple acyl-CoA dehydrogenation deficiency: a molecular rationale for the effects of riboflavin supplementation","volume":"284","author":"Henriques","year":"2009","journal-title":"J. Biol. Chem."},{"issue":"2\u20133","key":"10.1016\/j.mito.2014.09.006_bb0090","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1016\/S0925-4439(97)00073-2","article-title":"Deficiency of dihydrolipoamide dehydrogenase due to two mutant alleles (E340K and G101del). Analysis of a family and prenatal testing","volume":"1362","author":"Hong","year":"1997","journal-title":"Biochim. Biophys. Acta"},{"issue":"8","key":"10.1016\/j.mito.2014.09.006_bb0095","doi-asserted-by":"crossref","first-page":"816","DOI":"10.1023\/B:BOLI.0000010004.12053.5b","article-title":"Identification of a common mutation (Gly194Cys) in both Arab Moslem and Ashkenazi Jewish patients with dihydrolipoamide dehydrogenase (E3) deficiency: possible beneficial effect of vitamin therapy","volume":"26","author":"Hong","year":"2003","journal-title":"J. Inherit. Metab. Dis."},{"issue":"1\u20133","key":"10.1016\/j.mito.2014.09.006_bb0110","doi-asserted-by":"crossref","first-page":"146","DOI":"10.1016\/j.febslet.2004.05.024","article-title":"Dihydrolipoamide dehydrogenase from porcine heart catalyzes NADH-dependent scavenging of nitric oxide","volume":"568","author":"Igamberdiev","year":"2004","journal-title":"FEBS Lett."},{"issue":"3","key":"10.1016\/j.mito.2014.09.006_bb0100","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1007\/BF00230082","article-title":"The mitochondrial glycine cleavage system. Unique features of the glycine decarboxylation","volume":"45","author":"Kikuchi","year":"1982","journal-title":"Mol. Cell. Biochem."},{"issue":"16","key":"10.1016\/j.mito.2014.09.006_bb0105","doi-asserted-by":"crossref","first-page":"16106","DOI":"10.1074\/jbc.M414285200","article-title":"pH-dependent substrate preference of pig heart lipoamide dehydrogenase varies with oligomeric state: response to mitochondrial matrix acidification","volume":"280","author":"Klyachko","year":"2005","journal-title":"J. Biol. Chem."},{"issue":"4","key":"10.1016\/j.mito.2014.09.006_bb0115","doi-asserted-by":"crossref","first-page":"402","DOI":"10.1006\/meth.2001.1262","article-title":"Analysis of relative gene expression data using real-time quantitative PCR and the 2(\u2212Delta Delta C(T)) Method","volume":"25","author":"Livak","year":"2001","journal-title":"Methods"},{"issue":"1","key":"10.1016\/j.mito.2014.09.006_bb0120","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1016\/S0022-3476(84)80591-0","article-title":"Lipoamide dehydrogenase deficiency with primary lactic acidosis: favorable response to treatment with oral lipoic acid","volume":"104","author":"Matalon","year":"1984","journal-title":"J. Pediatr."},{"issue":"1","key":"10.1016\/j.mito.2014.09.006_bb0125","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1016\/0009-8981(96)06385-1","article-title":"Brain pyruvate oxidation in experimental thiamin-deficiency encephalopathy","volume":"255","author":"Munujos","year":"1996","journal-title":"Clin. Chim. Acta"},{"key":"10.1016\/j.mito.2014.09.006_bb0130","doi-asserted-by":"crossref","first-page":"48","DOI":"10.1016\/S0076-6879(00)24218-3","article-title":"Determination of branched-chain alpha-keto acid dehydrogenase activity state and branched-chain alpha-keto acid dehydrogenase kinase activity and protein in mammalian tissues","volume":"324","author":"Nakai","year":"2000","journal-title":"Methods Enzymol."},{"key":"10.1016\/j.mito.2014.09.006_bb0135","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1007\/8904_2013_242","article-title":"A patient with complex I deficiency caused by a novel ACAD9 mutation not responding to riboflavin treatment","volume":"12","author":"Nouws","year":"2014","journal-title":"JIMD Rep."},{"issue":"3","key":"10.1016\/j.mito.2014.09.006_bb0140","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1002\/humu.9319","article-title":"A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of alpha-ketoglutarate dehydrogenase deficiency","volume":"25","author":"Odi\u00e8vre","year":"2005","journal-title":"Hum. Mutat."},{"issue":"Suppl.:S31\u201339","key":"10.1016\/j.mito.2014.09.006_bb0145","article-title":"Genetic and cellular modifiers of oxidative stress: what can we learn from fatty acid oxidation defects?","volume":"110","author":"Olsen","year":"2013","journal-title":"Mol. Genet. Metab."},{"issue":"51","key":"10.1016\/j.mito.2014.09.006_bb0150","doi-asserted-by":"crossref","first-page":"42921","DOI":"10.1074\/jbc.M112.397828","article-title":"A refined analysis of superoxide production by mitochondrial sn-glycerol 3-phosphate dehydrogenase","volume":"287","author":"Orr","year":"2012","journal-title":"J. Biol. Chem."},{"issue":"14","key":"10.1016\/j.mito.2014.09.006_bb0155","doi-asserted-by":"crossref","first-page":"3224","DOI":"10.1096\/fasebj.4.14.2227213","article-title":"Molecular biology and biochemistry of pyruvate dehydrogenase complexes","volume":"4","author":"Patel","year":"1990","journal-title":"FASEB J."},{"key":"10.1016\/j.mito.2014.09.006_bb0160","first-page":"215","article-title":"Bioinformatics in protein analysis","volume":"88","author":"Persson","year":"2000","journal-title":"EXS"},{"issue":"36","key":"10.1016\/j.mito.2014.09.006_bb0165","doi-asserted-by":"crossref","first-page":"31361","DOI":"10.1074\/jbc.M111.267898","article-title":"The mechanism of superoxide production by the antimycin-inhibited mitochondrial Q-cycle","volume":"286","author":"Quinlan","year":"2011","journal-title":"J. Biol. Chem."},{"issue":"32","key":"10.1016\/j.mito.2014.09.006_bb0175","doi-asserted-by":"crossref","first-page":"27255","DOI":"10.1074\/jbc.M112.374629","article-title":"Mitochondrial complex II can generate reactive oxygen species at high rates in both the forward and reverse reactions","volume":"287","author":"Quinlan","year":"2012","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.mito.2014.09.006_bb0170","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1016\/B978-0-12-405883-5.00012-0","article-title":"The determination and analysis of site-specific rates of mitochondrial reactive oxygen species production","volume":"526","author":"Quinlan","year":"2013","journal-title":"Methods Enzymol."},{"issue":"1","key":"10.1016\/j.mito.2014.09.006_bb0180","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1016\/j.pediatrneurol.2012.09.013","article-title":"Leigh syndrome in a girl with a novel DLD mutation causing E3 deficiency","volume":"48","author":"Quinonez","year":"2013","journal-title":"Pediatr. Neurol."},{"issue":"Suppl. 3","key":"10.1016\/j.mito.2014.09.006_bb0185","doi-asserted-by":"crossref","first-page":"S315","DOI":"10.1007\/s10545-010-9169-4","article-title":"Dihydrolipoamide dehydrogenase (DLD) deficiency in a Spanish patient with myopathic presentation due to a new mutation in the interface domain","volume":"33","author":"Quintana","year":"2010","journal-title":"J. Inherit. Metab. Dis."},{"issue":"1","key":"10.1016\/j.mito.2014.09.006_bb0190","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1016\/j.bbrc.2009.03.121","article-title":"Assaying ATP synthesis in cultured cells: a valuable tool for the diagnosis of patients with mitochondrial disorders","volume":"383","author":"Rizza","year":"2009","journal-title":"Biochem. Biophys. Res. Commun."},{"issue":"22","key":"10.1016\/j.mito.2014.09.006_bb0195","doi-asserted-by":"crossref","first-page":"2546","DOI":"10.2174\/1568026611212220009","article-title":"Cofactors and metabolites as protein folding helpers in metabolic diseases","volume":"12","author":"Rodrigues","year":"2012","journal-title":"Curr. Top. Med. Chem."},{"key":"10.1016\/j.mito.2014.09.006_bb0200","first-page":"97","article-title":"Comparative protein structure modeling. Introduction and practical examples with modeller","volume":"143","author":"S\u00e1nchez","year":"2000","journal-title":"Methods Mol. Biol."},{"issue":"2","key":"10.1016\/j.mito.2014.09.006_bb0205","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1002\/(SICI)1096-8628(19990115)82:2<177::AID-AJMG15>3.0.CO;2-9","article-title":"Molecular basis of lipoamide dehydrogenase deficiency in Ashkenazi Jews","volume":"82","author":"Shaag","year":"1999","journal-title":"Am. J. Med. Genet."},{"issue":"1","key":"10.1016\/j.mito.2014.09.006_bb0210","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1006\/bbrc.1999.1133","article-title":"Lipoamide dehydrogenase deficiency due to a novel mutation in the interface domain","volume":"262","author":"Shany","year":"1999","journal-title":"Biochem. Biophys. Res. Commun."},{"issue":"36","key":"10.1016\/j.mito.2014.09.006_bb0215","doi-asserted-by":"crossref","first-page":"7779","DOI":"10.1523\/JNEUROSCI.1899-04.2004","article-title":"Mitochondrial alpha-ketoglutarate dehydrogenase complex generates reactive oxygen species","volume":"24","author":"Starkov","year":"2004","journal-title":"J. Neurosci."},{"issue":"36","key":"10.1016\/j.mito.2014.09.006_bb0220","doi-asserted-by":"crossref","first-page":"7771","DOI":"10.1523\/JNEUROSCI.1842-04.2004","article-title":"Generation of reactive oxygen species in the reaction catalyzed by alpha-ketoglutarate dehydrogenase","volume":"24","author":"Tretter","year":"2004","journal-title":"J. Neurosci."},{"issue":"46","key":"10.1016\/j.mito.2014.09.006_bb0225","doi-asserted-by":"crossref","first-page":"40232","DOI":"10.1074\/jbc.M111.274415","article-title":"Mutations in the dimer interface of dihydrolipoamide dehydrogenase promote site-specific oxidative damages in yeast and human cells","volume":"286","author":"Vaubel","year":"2011","journal-title":"J. Biol. Chem."}],"container-title":["Mitochondrion"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1567724914001299?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1567724914001299?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,8,15]],"date-time":"2019-08-15T06:57:18Z","timestamp":1565852238000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1567724914001299"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,9]]},"references-count":45,"alternative-id":["S1567724914001299"],"URL":"https:\/\/doi.org\/10.1016\/j.mito.2014.09.006","relation":{},"ISSN":["1567-7249"],"issn-type":[{"value":"1567-7249","type":"print"}],"subject":[],"published":{"date-parts":[[2014,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Riboflavin responsive mitochondrial myopathy is a new phenotype of dihydrolipoamide dehydrogenase deficiency. The chaperon-like effect of vitamin B2","name":"articletitle","label":"Article Title"},{"value":"Mitochondrion","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.mito.2014.09.006","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2014 Published by Elsevier B.V.","name":"copyright","label":"Copyright"}]}}