Turunen M, Olsson J, Dallner G. Metabolism and function of coenzyme Q. Biochim Biophys Acta. 2004;1660:171–99.
Article
PubMed
CAS
Google Scholar
Quinzii CM, Hirano M. Coenzyme Q and mitochondrial disease. Dev Disabil Res Rev. 2010;16:183–8.
Article
PubMed
PubMed Central
Google Scholar
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;38:145–56.
Article
PubMed
CAS
Google Scholar
Matsuoka T, Maeda H, Goto Y, Nonaka I. Muscle coenzyme Q10 in mitochondrial encephalomyopathies. Neuromuscul Disord. 1991;1:443–7.
Article
PubMed
CAS
Google Scholar
Sacconi S, Trevisson E, Salviati L, Aymé S, Rigal O, Redondo AG, et al. Coenzyme Q10 is frequently reduced in muscle of patients with mitochondrial myopathy. Neuromuscul Disord. 2010;20:44–8.
Article
PubMed
Google Scholar
Montero R, Grazina M, López-Gallardo E, Montoya J, Briones P, Navarro-Sastre A, et al. Coenzyme Q10 deficiency in mitochondrial DNA depletion syndromes. Mitochondrion. 2013;13:337–41.
Article
PubMed
CAS
Google Scholar
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;64:539–41.
Article
PubMed
CAS
Google Scholar
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;130:2037–44.
Article
PubMed
PubMed Central
Google Scholar
Liang WC, Ohkuma A, Hayashi YK, López 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;19:212–6.
Article
PubMed
Google Scholar
Aeby A, Sznajer Y, Cavé 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.
Article
PubMed
CAS
Google Scholar
Buján N, Arias A, Montero R, García-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;37:53–62.
Article
PubMed
Google Scholar
Geromel V, Darin N, Chrétien D, Bénit P, DeLonlay P, Rötig A, et al. Coenzyme Q(10) and idebenone in the therapy of respiratory chain diseases: rationale and comparative benefits. Mol Genet Metab. 2002;77:21–30.
Article
PubMed
CAS
Google Scholar
Trevisson E, DiMauro S, Navas P, Salviati L. Coenzyme Q deficiency in muscle. Curr Opin Neurol. 2011;24:449–56.
Article
PubMed
CAS
Google Scholar
García-Corzo L, Luna-Sánchez M, Doerrier C, Ortiz F, Escames G, Acuña-Castroviejo D, et al. Ubiquinol-10 ameliorates mitochondrial encephalopathy associated with CoQ deficiency. Biochim Biophys Acta. 2014;1842:893–901.
Article
PubMed
Google Scholar
Rustin P, Munnich A, Rötig A. Mitochondrial respiratory chain dysfunction caused by coenzyme Q deficiency. Methods Enzymol. 2004;382:81–8.
Article
PubMed
CAS
Google Scholar
Rötig A, Mollet J, Rio M, Munnich A. Infantile and pediatric quinone deficiency diseases. Mitochondrion. 2007;7(Suppl):S112–21.
Article
PubMed
Google Scholar
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;11:533–6.
Article
PubMed
CAS
Google Scholar
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;18:2773–80.
Article
PubMed
CAS
Google Scholar
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;17:150–6.
Article
PubMed
CAS
Google Scholar
Quinzii CM, López 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;22:1874–85.
Article
PubMed
CAS
PubMed Central
Google Scholar
Quinzii CM, López 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;24:3733–43.
Article
PubMed
CAS
PubMed Central
Google Scholar
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;36:63–73.
Article
PubMed
CAS
Google Scholar
Lalani SR, Vladutiu GD, Plunkett K, Lotze TE, Adesina AM, Scaglia F. Isolated mitochondrial myopathy associated with muscle coenzyme Q10 deficiency. Arch Neurol. 2005;62:317–20.
Article
PubMed
Google Scholar
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;236:97–101.
Article
PubMed
CAS
Google Scholar
Mc Guire PJ. Parikh A, Diaz GA. Profiling of oxidative stress in patients with inborn errors of metabolism. Mol Genet Metab. 2009;98:173–80.
Article
PubMed
PubMed Central
Google Scholar
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;228:506–13.
PubMed
CAS
Google Scholar
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;265:16330–6.
PubMed
CAS
Google Scholar
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;463:19–26.
Article
PubMed
CAS
PubMed Central
Google Scholar
Montero R, Artuch R, Briones P, Nascimento A, García-Cazorla A, Vilaseca MA, et al. Muscle coenzyme Q10 concentrations in patients with probable and definite diagnosis of respiratory chain disorders. BioFactors. 2005;25:109–15.
Article
PubMed
CAS
Google Scholar
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;8:170–80.
Article
PubMed
CAS
Google Scholar
Rustin P, Chretien D, Bourgeron T, Gérard B, Rötig A, Saudubray JM, et al. Biochemical and molecular investigations in respiratory chain deficiencies. Clin Chim Acta. 1994;228:35–51.
Article
PubMed
CAS
Google Scholar
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;72:248–54.
Article
PubMed
CAS
Google Scholar
Benoist JF, Rigal O, Nivoche Y, Martin C, Biou D, Lombès A. Differences in coenzyme Q10 content in deltoid and quadriceps muscles. Clin Chim Acta. 2003;329:147–8.
Article
PubMed
CAS
Google Scholar