{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T03:38:26Z","timestamp":1791344306313,"version":"4.3.1"},"reference-count":33,"publisher":"Springer Science and Business Media LLC","issue":"1","funder":[{"name":"CHU of Nice"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Biol Res"],"published-print":{"date-parts":[[2016,12]]},"DOI":"10.1186\/s40659-015-0065-0","type":"journal-article","created":{"date-parts":[[2016,1,8]],"date-time":"2016-01-08T00:29:32Z","timestamp":1452212972000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":21,"title":["Coenzyme Q10 defects may be associated with a deficiency of Q10-independent mitochondrial respiratory chain complexes"],"prefix":"10.1186","volume":"49","author":[{"given":"Konstantina","family":"Fragaki","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annabelle","family":"Chaussenot","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Fran\u00e7ois","family":"Benoist","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Samira","family":"Ait-El-Mkadem","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sylvie","family":"Bannwarth","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C\u00e9cile","family":"Rouzier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charlotte","family":"Cochaud","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V\u00e9ronique","family":"Paquis-Flucklinger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2016,1,8]]},"reference":[{"key":"65_CR1","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1016\/j.bbamem.2003.11.012","volume":"1660","author":"M Turunen","year":"2004","unstructured":"Turunen M, Olsson J, Dallner G. Metabolism and function of coenzyme Q. Biochim Biophys Acta. 2004;1660:171\u201399.","journal-title":"Biochim Biophys Acta"},{"key":"65_CR2","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1002\/ddrr.108","volume":"16","author":"CM Quinzii","year":"2010","unstructured":"Quinzii CM, Hirano M. Coenzyme Q and mitochondrial disease. Dev Disabil Res Rev. 2010;16:183\u20138.","journal-title":"Dev Disabil Res Rev"},{"key":"65_CR3","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1007\/s10545-014-9749-9","volume":"38","author":"MA Desbats","year":"2015","unstructured":"Desbats MA, Lunardi G, Doimo M, Trevisson E, Salviati L. Genetic bases and clinical manifestations of coenzyme Q10 (CoQ 10) deficiency. J Inherit Metab Dis. 2015;38:145\u201356.","journal-title":"J Inherit Metab Dis"},{"key":"65_CR4","doi-asserted-by":"crossref","first-page":"443","DOI":"10.1016\/0960-8966(91)90007-F","volume":"1","author":"T Matsuoka","year":"1991","unstructured":"Matsuoka T, Maeda H, Goto Y, Nonaka I. Muscle coenzyme Q10 in mitochondrial encephalomyopathies. Neuromuscul Disord. 1991;1:443\u20137.","journal-title":"Neuromuscul Disord"},{"key":"65_CR5","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1016\/j.nmd.2009.10.014","volume":"20","author":"S Sacconi","year":"2010","unstructured":"Sacconi S, Trevisson E, Salviati L, Aym\u00e9 S, Rigal O, Redondo AG, et al. Coenzyme Q10 is frequently reduced in muscle of patients with mitochondrial myopathy. Neuromuscul Disord. 2010;20:44\u20138.","journal-title":"Neuromuscul Disord"},{"key":"65_CR6","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1016\/j.mito.2013.04.001","volume":"13","author":"R Montero","year":"2013","unstructured":"Montero R, Grazina M, L\u00f3pez-Gallardo E, Montoya J, Briones P, Navarro-Sastre A, et al. Coenzyme Q10 deficiency in mitochondrial DNA depletion syndromes. Mitochondrion. 2013;13:337\u201341.","journal-title":"Mitochondrion"},{"key":"65_CR7","doi-asserted-by":"crossref","first-page":"539","DOI":"10.1212\/01.WNL.0000150588.75281.58","volume":"64","author":"CM Quinzii","year":"2005","unstructured":"Quinzii CM, Kattah AG, Naini A, Akman HO, Mootha VK, DiMauro S, et al. Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation. Neurology. 2005;64:539\u201341.","journal-title":"Neurology"},{"key":"65_CR8","doi-asserted-by":"crossref","first-page":"2037","DOI":"10.1093\/brain\/awm054","volume":"130","author":"K Gempel","year":"2007","unstructured":"Gempel K, Topaloglu H, Talim B, Schneiderat P, Schoser BG, Hans VH, et al. The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene. Brain. 2007;130:2037\u201344.","journal-title":"Brain"},{"key":"65_CR9","doi-asserted-by":"crossref","first-page":"212","DOI":"10.1016\/j.nmd.2009.01.008","volume":"19","author":"WC Liang","year":"2009","unstructured":"Liang WC, Ohkuma A, Hayashi YK, L\u00f3pez LC, Hirano M, Nonaka I, et al. ETFDH mutations, CoQ10 levels, and respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency. Neuromuscul Disord. 2009;19:212\u20136.","journal-title":"Neuromuscul Disord"},{"key":"65_CR10","doi-asserted-by":"crossref","first-page":"827","DOI":"10.1007\/s10545-007-0612-0","volume":"30","author":"A Aeby","year":"2007","unstructured":"Aeby A, Sznajer Y, Cav\u00e9 H, Rebuffat E, Van Coster R, Rigal O, et al. Cardiofaciocutaneous (CFC) syndrome associated with muscular coenzyme Q10 deficiency. J Inherit Metab Dis. 2007;30:827.","journal-title":"J Inherit Metab Dis"},{"key":"65_CR11","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1007\/s10545-013-9620-4","volume":"37","author":"N Buj\u00e1n","year":"2014","unstructured":"Buj\u00e1n N, Arias A, Montero R, Garc\u00eda-Villoria J, Lissens W, Seneca S, et al. Characterization of CoQ10 biosynthesis in fibroblasts of patients with primary and secondary CoQ10 deficiency. J Inherit Metab Dis. 2014;37:53\u201362.","journal-title":"J Inherit Metab Dis"},{"key":"65_CR12","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1016\/S1096-7192(02)00145-2","volume":"77","author":"V Geromel","year":"2002","unstructured":"Geromel V, Darin N, Chr\u00e9tien D, B\u00e9nit P, DeLonlay P, R\u00f6tig A, et al. Coenzyme Q(10) and idebenone in the therapy of respiratory chain diseases: rationale and comparative benefits. Mol Genet Metab. 2002;77:21\u201330.","journal-title":"Mol Genet Metab"},{"key":"65_CR13","doi-asserted-by":"crossref","first-page":"449","DOI":"10.1097\/WCO.0b013e32834ab528","volume":"24","author":"E Trevisson","year":"2011","unstructured":"Trevisson E, DiMauro S, Navas P, Salviati L. Coenzyme Q deficiency in muscle. Curr Opin Neurol. 2011;24:449\u201356.","journal-title":"Curr Opin Neurol"},{"key":"65_CR14","doi-asserted-by":"crossref","first-page":"893","DOI":"10.1016\/j.bbadis.2014.02.008","volume":"1842","author":"L Garc\u00eda-Corzo","year":"2014","unstructured":"Garc\u00eda-Corzo L, Luna-S\u00e1nchez M, Doerrier C, Ortiz F, Escames G, Acu\u00f1a-Castroviejo D, et al. Ubiquinol-10 ameliorates mitochondrial encephalopathy associated with CoQ deficiency. Biochim Biophys Acta. 2014;1842:893\u2013901.","journal-title":"Biochim Biophys Acta"},{"key":"65_CR15","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1016\/S0076-6879(04)82005-6","volume":"382","author":"P Rustin","year":"2004","unstructured":"Rustin P, Munnich A, R\u00f6tig A. Mitochondrial respiratory chain dysfunction caused by coenzyme Q deficiency. Methods Enzymol. 2004;382:81\u20138.","journal-title":"Methods Enzymol"},{"issue":"Suppl","key":"65_CR16","doi-asserted-by":"crossref","first-page":"S112","DOI":"10.1016\/j.mito.2007.02.008","volume":"7","author":"A R\u00f6tig","year":"2007","unstructured":"R\u00f6tig A, Mollet J, Rio M, Munnich A. Infantile and pediatric quinone deficiency diseases. Mitochondrion. 2007;7(Suppl):S112\u201321.","journal-title":"Mitochondrion"},{"key":"65_CR17","doi-asserted-by":"crossref","first-page":"533","DOI":"10.1016\/j.mito.2011.02.002","volume":"11","author":"K Fragaki","year":"2011","unstructured":"Fragaki K, Cano A, Benoist JF, Rigal O, Chaussenot A, Rouzier C, et al. Fatal heart failure associated with CoQ10 and multiple OXPHOS deficiency in a child with propionic acidemia. Mitochondrion. 2011;11:533\u20136.","journal-title":"Mitochondrion"},{"key":"65_CR18","doi-asserted-by":"crossref","first-page":"2773","DOI":"10.1681\/ASN.2006080833","volume":"18","author":"F Diomedi-Camassei","year":"2007","unstructured":"Diomedi-Camassei F, Di Giandomenico S, Santorelli FM, Caridi G, Piemonte F, Montini G, et al. COQ2 nephropathy: a newly described inherited mitochondriopathy with primary renal involvement. J Am Soc Nephrol. 2007;18:2773\u201380.","journal-title":"J Am Soc Nephrol"},{"key":"65_CR19","doi-asserted-by":"crossref","first-page":"150","DOI":"10.1016\/j.mito.2014.07.001","volume":"17","author":"J Baruteau","year":"2014","unstructured":"Baruteau J, Hargreaves I, Krywawych S, Chalasani A, Land JM, Davison JE, et al. Successful reversal of propionic acidaemia associated cardiomyopathy: evidence for low myocardial coenzyme Q10 status and secondary mitochondrial dysfunction as an underlying pathophysiological mechanism. Mitochondrion. 2014;17:150\u20136.","journal-title":"Mitochondrion"},{"key":"65_CR20","doi-asserted-by":"crossref","first-page":"1874","DOI":"10.1096\/fj.07-100149","volume":"22","author":"CM Quinzii","year":"2008","unstructured":"Quinzii CM, L\u00f3pez LC, Von-Moltke J, Naini A, Krishna S, Schuelke M, et al. Respiratory chain dysfunction and oxidative stress correlate with severity of primary CoQ10 deficiency. FASEB J. 2008;22:1874\u201385.","journal-title":"FASEB J."},{"key":"65_CR21","doi-asserted-by":"crossref","first-page":"3733","DOI":"10.1096\/fj.09-152728","volume":"24","author":"CM Quinzii","year":"2010","unstructured":"Quinzii CM, L\u00f3pez LC, Gilkerson RW, Dorado B, Coku J, Naini AB, et al. Reactive oxygen species, oxidative stress, and cell death correlate with level of CoQ10 deficiency. FASEB J. 2010;24:3733\u201343.","journal-title":"FASEB J."},{"key":"65_CR22","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1007\/s10545-012-9511-0","volume":"36","author":"KE Duberley","year":"2013","unstructured":"Duberley KE, Abramov AY, Chalasani A, Heales SJ, Rahman S, Hargreaves IP. Human neuronal coenzyme Q10 deficiency results in global loss of mitochondrial respiratory chain activity, increased mitochondrial oxidative stress and reversal of ATP synthase activity: implications for pathogenesis and treatment. J Inherit Metab Dis. 2013;36:63\u201373.","journal-title":"J Inherit Metab Dis"},{"key":"65_CR23","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1001\/archneur.62.2.317","volume":"62","author":"SR Lalani","year":"2005","unstructured":"Lalani SR, Vladutiu GD, Plunkett K, Lotze TE, Adesina AM, Scaglia F. Isolated mitochondrial myopathy associated with muscle coenzyme Q10 deficiency. Arch Neurol. 2005;62:317\u201320.","journal-title":"Arch Neurol"},{"key":"65_CR24","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1007\/BF00314404","volume":"236","author":"S Zierz","year":"1989","unstructured":"Zierz S, Jahns G, Jerusalem F. Coenzyme Q in serum and muscle of 5 patients with Kearns-Sayre syndrome and 12 patients with ophthalmoplegia plus. J Neurol. 1989;236:97\u2013101.","journal-title":"J Neurol"},{"key":"65_CR25","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1016\/j.ymgme.2009.06.007","volume":"98","author":"Mc Guire PJ","year":"2009","unstructured":"Mc Guire PJ. Parikh A, Diaz GA. Profiling of oxidative stress in patients with inborn errors of metabolism. Mol Genet Metab. 2009;98:173\u201380.","journal-title":"Mol Genet Metab"},{"key":"65_CR26","doi-asserted-by":"crossref","first-page":"506","DOI":"10.1177\/15353702-0322805-14","volume":"228","author":"ML Genova","year":"2003","unstructured":"Genova ML, Pich MM, Biondi A, Bernacchia A, Falasca A, Bovina C, et al. Mitochondrial production of oxygen radical species and the role of Coenzyme Q as an antioxidant. Exp Biol Med (Maywood). 2003;228:506\u201313.","journal-title":"Exp Biol Med (Maywood)."},{"key":"65_CR27","doi-asserted-by":"crossref","first-page":"16330","DOI":"10.1016\/S0021-9258(17)46227-2","volume":"265","author":"Y Zhang","year":"1990","unstructured":"Zhang Y, Marcillat O, Giulivi C, Ernster L, Davies KJ. The oxidative inactivation of mitochondrial electron transport chain components and ATPase. J Biol Chem. 1990;265:16330\u20136.","journal-title":"J Biol Chem"},{"key":"65_CR28","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1016\/j.abb.2007.02.016","volume":"463","author":"EJ Hsieh","year":"2007","unstructured":"Hsieh EJ, Gin P, Gulmezian M, Tran UC, Saiki R, Marbois BN, et al. Saccharomyces cerevisiae Coq9 polypeptide is a subunit of the mitochondrial coenzyme Q biosynthetic complex. Arch Biochem Biophys. 2007;463:19\u201326.","journal-title":"Arch Biochem Biophys"},{"key":"65_CR29","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1002\/biof.5520250112","volume":"25","author":"R Montero","year":"2005","unstructured":"Montero R, Artuch R, Briones P, Nascimento A, Garc\u00eda-Cazorla A, Vilaseca MA, et al. Muscle coenzyme Q10 concentrations in patients with probable and definite diagnosis of respiratory chain disorders. BioFactors. 2005;25:109\u201315.","journal-title":"BioFactors"},{"key":"65_CR30","doi-asserted-by":"crossref","first-page":"170","DOI":"10.1016\/j.mito.2008.01.003","volume":"8","author":"MV Miles","year":"2008","unstructured":"Miles MV, Miles L, Tang PH, Horn PS, Steele PE, DeGrauw AJ, et al. Systematic evaluation of muscle coenzyme Q10 content in children with mitochondrial respiratory chain enzyme deficiencies. Mitochondrion. 2008;8:170\u201380.","journal-title":"Mitochondrion"},{"key":"65_CR31","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1016\/0009-8981(94)90055-8","volume":"228","author":"P Rustin","year":"1994","unstructured":"Rustin P, Chretien D, Bourgeron T, G\u00e9rard B, R\u00f6tig A, Saudubray JM, et al. Biochemical and molecular investigations in respiratory chain deficiencies. Clin Chim Acta. 1994;228:35\u201351.","journal-title":"Clin Chim Acta"},{"key":"65_CR32","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1016\/0003-2697(76)90527-3","volume":"72","author":"MM Bradford","year":"1976","unstructured":"Bradford MM. A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding. Anal Biochem. 1976;72:248\u201354.","journal-title":"Anal Biochem"},{"key":"65_CR33","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1016\/S0009-8981(02)00423-0","volume":"329","author":"JF Benoist","year":"2003","unstructured":"Benoist JF, Rigal O, Nivoche Y, Martin C, Biou D, Lomb\u00e8s A. Differences in coenzyme Q10 content in deltoid and quadriceps muscles. Clin Chim Acta. 2003;329:147\u20138.","journal-title":"Clin Chim Acta"}],"container-title":["Biological Research"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/s40659-015-0065-0","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,6,1]],"date-time":"2022-06-01T04:36:29Z","timestamp":1654058189000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.biolres.com\/content\/49\/1\/4"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,1,8]]},"references-count":33,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2016,12]]}},"alternative-id":["65"],"URL":"https:\/\/doi.org\/10.1186\/s40659-015-0065-0","relation":{},"ISSN":["0717-6287"],"issn-type":[{"value":"0717-6287","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,1,8]]},"article-number":"4"}}