Putative adjunct therapies to target mitochondrial dysfunction and oxidative stress in phenylketonuria, lysosomal storage disorders and peroxisomal disorders

References

• Stepien KM, Heaton R, Rankin S, et al. Evidence of oxidative stress and secondary mitochondrial dysfunction in metabolic and non-metabolic disorders. J Clin Med. 2017;6(7):71.
   PubMed Web of Science ®Google Scholar
• Uttara B, Singh AV, Zamboni P, et al. Oxidative stress and neurodegenerative diseases: a review of upstream and downstream antioxidant therapeutic options. Curr Neuropharmacol. 2009;7(1):65–74.
   PubMed Web of Science ®Google Scholar
• Therond P. Oxidative stress and damages to biomolecules (lipids, proteins, DNA). Ann Pharm Fr. 2006 Nov;64(6):383–389.
   PubMedGoogle Scholar
• Sunday O, Adekunle M, Temitope O, et al. Alteration in antioxidants level and lipid peroxidation of patients with neurodegenerative diseases {Alzheimer’s disease and Parkinson disease} [Original Article]. Int J Nutr Pharmacol Neurol Dis. 2014 July 1;4(3):146–152.
   Google Scholar
• Burton GJ, Jauniaux E. Oxidative stress. Best Pract Res Clin Obstetrics Gynaecol. 2011;25(3):287–299.
   PubMed Web of Science ®Google Scholar
• Pelicano H, Lu W, Zhou Y, et al. Mitochondrial dysfunction and reactive oxygen species imbalance promote breast cancer cell motility through a CXCL14-mediated mechanism. Cancer Res. 2009;69(6):2375–2383.
   PubMed Web of Science ®Google Scholar
• Kolker S, Schwab M, Horster F, et al. Methylmalonic acid, a biochemical hallmark of methylmalonic acidurias but no inhibitor of mitochondrial respiratory chain. J Biol Chem. 2003 Nov 28;278(48):47388–47393.
   PubMed Web of Science ®Google Scholar
• Brealey D, Brand M, Hargreaves I, et al. Association between mitochondrial dysfunction and severity and outcome of septic shock. Lancet. 2002;360(9328):219–223.
   PubMed Web of Science ®Google Scholar
• Ogura S, Shimosawa T. Oxidative stress and organ damages. Curr Hypertens Rep. 2014 Aug;16(8):452.
   PubMed Web of Science ®Google Scholar
• New Prognostic LL. Biomarkers of mitochondrial oxidative stress in septic patients [Review Article]. Arch Crit Care Med. 2015;1(2):e3125.
   Google Scholar
• Reddy PH, Manczak M, Yin X, et al. Protective effects of indian spice curcumin against amyloid-β in Alzheimer’s disease. J Alzheimers Dis. 2018;61(3):843–866.
   PubMed Web of Science ®Google Scholar
• Martinez-Cruz F, Pozo D, Osuna C, et al. Oxidative stress induced by phenylketonuria in the rat: prevention by melatonin, vitamin E, and vitamin C. J Neurosci Res. 2002;69(4):550–558.
   PubMed Web of Science ®Google Scholar
• Zhou Y-A, Ma Y-X, Zhang Q-B, et al. Mutations of the phenylalanine hydroxylase gene in patients with phenylketonuria in Shanxi, China. Genet Mol Biol. 2012;35(4):709–713.
   PubMed Web of Science ®Google Scholar
• Vockley J, Andersson HC, Antshel KM, et al. Phenylalanine hydroxylase deficiency: diagnosis and management guideline. Genet Med. 2014;16(2):188–200.
   PubMed Web of Science ®Google Scholar
• Krause W, Halminski M, McDonald L, et al. Biochemical and neuropsychological effects of elevated plasma phenylalanine in patients with treated phenylketonuria. A model for the study of phenylalanine and brain function in man. J Clin Invest. 1985 Jan;75(1):40–48.
   PubMed Web of Science ®Google Scholar
• Pietz J. Neurological aspects of adult phenylketonuria. Curr Opin Neurol. 1998;11(6):679–688.
   PubMed Web of Science ®Google Scholar
• Targum SD, Lang W. Neurobehavioral problems associated with phenylketonuria. Psychiatry. 2010;7(12):29–32.
   PubMedGoogle Scholar
• Vist GE, Fronsdal KB, Johansen M, et al. NIPH systematic reviews: executive summaries. Newborn screening for inborn errors of metabolism. Oslo, Norway: Knowledge Centre for the Health Services at The Norwegian Institute of Public Health (NIPH) Copyright (c)2007 by The Norwegian Institute of Public Health (NIPH); 2007.
   Google Scholar
• Das AM, Goedecke K, Meyer U, et al. Dietary habits and metabolic control in adolescents and young adults with phenylketonuria: self-imposed protein restriction may be harmful. JIMD Rep. 2014;13:149–158.
   PubMedGoogle Scholar
• Ding XQ, Fiehler J, Kohlschütter B, et al. MRI abnormalities in normal-appearing brain tissue of treated adult PKU patients. J Magn Reson Imaging. 2008;27(5):998–1004.
   PubMed Web of Science ®Google Scholar
• Vieira EN, Maia HSF, Monteiro CB, et al. Quality of life and adherence to treatment in early-treated Brazilian phenylketonuria pediatric patients. Braz J Med Biol Res = Rev Bras Pesqui Med Biol. 2017;51(2):e6709–e6709.
   PubMed Web of Science ®Google Scholar
• Weglage J, Pietsch M, Funders B, et al. Neurological findings in early treated phenylketonuria. Acta Paediatr. 1995 Apr;84(4):411–415.
   PubMed Web of Science ®Google Scholar
• Cazzorla C, Bensi G, Biasucci G, et al. Living with phenylketonuria in adulthood: the PKU ATTITUDE study. Mol Genet Metab Rep. 2018;16:39–45.
   PubMed Web of Science ®Google Scholar
• Sirtori LR, Dutra-Filho CS, Fitarelli D, et al. Oxidative stress in patients with phenylketonuria. Biochim Biophys Acta. 2005 Apr 15;1740(1):68–73.
   PubMed Web of Science ®Google Scholar
• Sitta A, Barschak AG, Deon M, et al. Investigation of oxidative stress parameters in treated phenylketonuric patients. Metab Brain Dis. 2006 Dec;21(4):287–296.
   PubMed Web of Science ®Google Scholar
• Ercal N, Aykin-Burns N, Gurer-Orhan H, et al. Oxidative stress in a phenylketonuria animal model. Free Radic Biol Med. 2002 May 1;32(9):906–911.
   PubMed Web of Science ®Google Scholar
• Schulpis KH, Tsakiris S, Traeger-Synodinos J, et al. Low total antioxidant status is implicated with high 8-hydroxy-2-deoxyguanosine serum concentrations in phenylketonuria. Clin Biochem. 2005 Mar;38(3):239–242.
   PubMed Web of Science ®Google Scholar
• Ide T, Tsutsui H, Kinugawa S, et al. Mitochondrial electron transport complex I is a potential source of oxygen free radicals in the failing myocardium. Circ Res. 1999;85(4):357–363.
   PubMed Web of Science ®Google Scholar
• Matsuzaki S, Szweda PA, Szweda LI, et al. Regulated production of free radicals by the mitochondrial electron transport chain: cardiac ischemic preconditioning. Adv Drug Deliv Rev. 2009;61(14):1324–1331.
   PubMed Web of Science ®Google Scholar
• Rech VC, Feksa LR, Dutra-Filho CS, et al. Inhibition of the mitochondrial respiratory chain by phenylalanine in rat cerebral cortex. Neurochem Res. 2002 May;27(5):353–357.
   PubMed Web of Science ®Google Scholar
• Kyprianou N, Murphy E, Lee P, et al. Assessment of mitochondrial respiratory chain function in hyperphenylalaninaemia. J Inherit Metab Dis. 2009;32(2):289–296.
   PubMed Web of Science ®Google Scholar
• Hargreaves IP, Heales SJ, Briddon A, et al. Blood mononuclear cell coenzyme Q10 concentration and mitochondrial respiratory chain succinate cytochrome-c reductase activity in phenylketonuric patients. J Inherit Metab Dis. 2002 Dec;25(8):673–679.
   PubMed Web of Science ®Google Scholar
• Halestrap AP, Brand MD, Denton RM. Inhibition of mitochondrial pyruvate transport by phenylpyruvate and α-ketoisocaproate. Biochim Biophys Acta - Biomembr. 1974;367(1):102–108.
   PubMed Web of Science ®Google Scholar
• Preissler T, Bristot IJ, Costa BM, et al. Phenylalanine induces oxidative stress and decreases the viability of rat astrocytes: possible relevance for the pathophysiology of neurodegeneration in phenylketonuria. Metab Brain Dis. 2016 Jun;31(3):529–537.
   PubMed Web of Science ®Google Scholar
• de Groot MJ, Sijens PE, Reijngoud D-J, et al. Phenylketonuria: brain phenylalanine concentrations relate inversely to cerebral protein synthesis. J Cereb Blood Flow and Metab. 2015;35(2):200–205.
   PubMed Web of Science ®Google Scholar
• Hatanaka N, Nakaden H, Yamamoto Y, et al. Selenium kinetics and changes in glutathione peroxidase activities in patients receiving long-term parenteral nutrition and effects of supplementation with selenite. Nutrition. 2000 Jan;16(1):22–26.
   PubMed Web of Science ®Google Scholar
• Sanayama Y, Nagasaka H, Takayanagi M, et al. Experimental evidence that phenylalanine is strongly associated to oxidative stress in adolescents and adults with phenylketonuria. Mol Genet Metab. 2011 Jul;103(3):220–225.
   PubMed Web of Science ®Google Scholar
• Kienzle Hagen ME, Pederzolli CD, Sgaravatti AM, et al. Experimental hyperphenylalaninemia provokes oxidative stress in rat brain. Biochim Biophys Acta. 2002 Apr 24;1586(3):344–352.
   PubMed Web of Science ®Google Scholar
• Castillo M, Zafra MF, Garcia-Peregrin E. Inhibition of brain and liver 3-hydroxy-3-methylglutaryl-CoA reductase and mevalonate-5-pyrophosphate decarboxylase in experimental hyperphenylalaninemia. Neurochem Res. 1988;13(6):551–555.
   PubMed Web of Science ®Google Scholar
• Shefer S, Tint GS, Jean-Guillaume D, et al. Is there a relationship between 3-hydroxy-3-methylglutaryl coenzyme a reductase activity and forebrain pathology in the PKU mouse? J Neurosci Res. 2000 Sep 1;61(5):549–563.
   PubMed Web of Science ®Google Scholar
• Montero R, Yubero D, Salgado MC, et al. Plasma coenzyme Q(10) status is impaired in selected genetic conditions. Sci Rep. 2019;9(1):793.
   PubMedGoogle Scholar
• Artuch R, Colomé C, Vilaseca MA, et al. Plasma phenylalanine is asociated with decreased serum ubiquine-10 concentrations in phenylketonuria. J Inherit Metab Dis. 2001;24(3):359–366.
   PubMed Web of Science ®Google Scholar
• Zhong X, Yi X, da Silveira ESR, et al. CoQ10 deficiency may indicate mitochondrial dysfunction in Cr(VI) toxicity. Int J Mol Sci. 2017;18(4):816.
   Web of Science ®Google Scholar
• Miyamae T, Seki M, Naga T, et al. Increased oxidative stress and coenzyme Q10 deficiency in juvenile fibromyalgia: amelioration of hypercholesterolemia and fatigue by ubiquinol-10 supplementation. Redox Rep. 2013;18(1):12–19.
   PubMed Web of Science ®Google Scholar
• Platt FM, d’Azzo A, Davidson BL, et al. Lysosomal storage diseases. Nat Rev Dis Primers. 2018;4(1):27.
   PubMed Web of Science ®Google Scholar
• Sun A. Lysosomal storage disease overview. Ann Transl Med. 2018;6(24):476.
   PubMed Web of Science ®Google Scholar
• Ferreira CR, Gahl WA. Lysosomal storage diseases. Transl Sci Rare Dis. 2017;2(1–2):1–71.
   PubMedGoogle Scholar
• Folts CJ, Scott-Hewitt N, Pröschel C, et al. Lysosomal Re-acidification prevents lysosphingolipid-induced lysosomal impairment and cellular toxicity. PLoS Biol. 2016;14(12):e1002583.
   PubMed Web of Science ®Google Scholar
• Wraith JE. The clinical presentation of lysosomal storage disorders. Acta Neurol Taiwan. 2004 Sep;13(3):101–106.
   PubMedGoogle Scholar
• Donida B, Jacques CED, Mescka CP, et al. Oxidative damage and redox in Lysosomal storage disorders: biochemical markers. Clin Chim Acta. 2017;466:46–53.
   PubMed Web of Science ®Google Scholar
• Demine S, Michel S, Vannuvel K, et al. Macroautophagy and cell responses related to mitochondrial dysfunction, lipid metabolism and unconventional secretion of proteins. Cells. 2012 Jun 20;1(2):168–203.
   PubMedGoogle Scholar
• Platt FM, Boland B, van der Spoel AC. The cell biology of disease: lysosomal storage disorders: the cellular impact of lysosomal dysfunction. J Cell Biol. 2012 Nov 26;199(5):723–734.
   PubMed Web of Science ®Google Scholar
• Mello AS, da Silva Garcia C, de Souza Machado F, et al. Oxidative stress parameters of Gaucher disease type I patients. Mol Genet Metab Rep. 2015;4:1–5.
   PubMed Web of Science ®Google Scholar
• Beutler E, Demina A, Gelbart T. Glucocerebrosidase mutations in Gaucher disease. Mol Med (Cambridge, MA). 1994;1(1):82–92.
   PubMed Web of Science ®Google Scholar
• Stirnemann J, Belmatoug N, Camou F, et al. A review of gaucher disease pathophysiology, clinical presentation and treatments. Int J Mol Sci. 2017;18(2):441.
   PubMed Web of Science ®Google Scholar
• Forman HJ, Zhang H, Rinna A. Glutathione: overview of its protective roles, measurement, and biosynthesis. Mol Aspects Med. 2009 Feb-Apr;30(1–2):1–12.
   PubMed Web of Science ®Google Scholar
• Donida B, Marchetti DP, Jacques CED, et al. Oxidative profile exhibited by Mucopolysaccharidosis type IVA patients at diagnosis: increased keratan urinary levels. Mol Genet Metab Rep. 2017;11:46–53.
   PubMed Web of Science ®Google Scholar
• Filippon L, Vanzin CS, Biancini GB, et al. Oxidative stress in patients with mucopolysaccharidosis type II before and during enzyme replacement therapy. Mol Genet Metab. 2011;103(2):121–127.
   PubMed Web of Science ®Google Scholar
• Kwan WP, Voelker BM. Rates of hydroxyl radical generation and organic compound oxidation in mineral-catalyzed fenton-like systems. Environ Sci Technol. 2003;37(6):1150–1158.
   PubMed Web of Science ®Google Scholar
• Osellame LD, Rahim AA, Hargreaves IP, et al. Mitochondria and quality control defects in a mouse model of Gaucher disease–links to Parkinson’s disease. Cell Metab. 2013;17(6):941–953.
   PubMed Web of Science ®Google Scholar
• Selak MA, de Chadarevian JP, Melvin JJ, et al. Mitochondrial activity in Pompe’s disease. Pediatr Neurol. 2000 Jul;23(1):54–57.
   PubMed Web of Science ®Google Scholar
• Martins C, Hůlková H, Dridi L, et al. Neuroinflammation, mitochondrial defects and neurodegeneration in mucopolysaccharidosis III type C mouse model. Brain. 2015;138(Pt 2):336–355.
   PubMedGoogle Scholar
• Yubero D, Montero R, O’Callaghan M, et al. Coenzyme Q(10) and pyridoxal phosphate deficiency is a common feature in mucopolysaccharidosis type III. JIMD Rep. 2016;25:1–7.
   PubMedGoogle Scholar
• Delille HK, Bonekamp NA, Schrader M. Peroxisomes and disease - an overview. Int J Biomed Sci: IJBS. 2006;2(4):308–314.
   PubMedGoogle Scholar
• Wierzbicki AS, Lloyd MD, Schofield CJ, et al. Refsum’s disease: a peroxisomal disorder affecting phytanic acid alpha-oxidation. J Neurochem. 2002 Mar;80(5):727–735.
   PubMed Web of Science ®Google Scholar
• Leipnitz G, Amaral AU, Fernandes CG, et al. Pristanic acid promotes oxidative stress in brain cortex of young rats: a possible pathophysiological mechanism for brain damage in peroxisomal disorders. Brain Res. 2011 Mar;25(1382):259–265.
   Google Scholar
• Argyriou C, D’Agostino MD, Braverman N. Peroxisome biogenesis disorders. Transl Sci Rare Dis. 2016;1(2):111–144.
   PubMedGoogle Scholar
• Suzuki Y, Shimozawa N, Orii T, et al. Genetic and molecular bases of peroxisome biogenesis disorders. Genet Med. 2001;3(5):372–376.
   PubMed Web of Science ®Google Scholar
• Baumgartner MR, Poll-The BT, Verhoeven NM, et al. Clinical approach to inherited peroxisomal disorders: a series of 27 patients. Ann Neurol. 1998 Nov;44(5):720–730.
   PubMed Web of Science ®Google Scholar
• Bams-Mengerink AM, Koelman JHTM, Waterham H, et al. The neurology of rhizomelic chondrodysplasia punctata. Orphanet J Rare Dis. 2013;8(1):174.
   PubMedGoogle Scholar
• Farrell DF. Neonatal adrenoleukodystrophy: a clinical, pathologic, and biochemical study. Pediatr Neurol. 2012 Nov;47(5):330–336.
   PubMed Web of Science ®Google Scholar
• Krysko O, Bottelbergs A, Van Veldhoven P, et al. Combined deficiency of peroxisomal beta-oxidation and ether lipid synthesis in mice causes only minor cortical neuronal migration defects but severe hypotonia. Mol Genet Metab. 2010 May;100(1):71–76.
   PubMed Web of Science ®Google Scholar
• Fransen M, Nordgren M, Wang B, et al. Role of peroxisomes in ROS/RNS-metabolism: implications for human disease. Biochim Biophys Acta. 2012 Sep;1822(9):1363–1373.
   PubMed Web of Science ®Google Scholar
• Gabison L, Prangé T, Colloc’h N, et al. Structural analysis of urate oxidase in complex with its natural substrate inhibited by cyanide: mechanistic implications. BMC Struct Biol. 2008;8:32.
   PubMed Web of Science ®Google Scholar
• Pascual-Ahuir A, Manzanares-Estreder S, Pro- and antioxidant functions of the peroxisome-mitochondria connection and its impact on aging and disease. Oxid Med Cell Longev. 2017;2017:9860841.
   PubMed Web of Science ®Google Scholar
• Heck DE, Shakarjian M, Kim HD, et al. Mechanisms of oxidant generation by catalase. Ann N Y Acad Sci. 2010;1203:120–125.
   PubMed Web of Science ®Google Scholar
• Fridovich I. Superoxide radical and superoxide dismutases. Annu Rev Biochem. 1995;64:97–112.
   PubMed Web of Science ®Google Scholar
• El-Bassyouni HT, Abdel Maksoud SA, Salem FA, et al. Evidence of oxidative stress in peroxisomal disorders. Singapore Med J. 2012 Sep;53(9):608–614.
   PubMed Web of Science ®Google Scholar
• Förstermann U, Sessa WC. Nitric oxide synthases: regulation and function. Eur Heart J. 2012;33(7):829–837d.
   PubMed Web of Science ®Google Scholar
• Phaniendra A, Jestadi DB, Periyasamy L. Free radicals: properties, sources, targets, and their implication in various diseases. Indian J Clin Biochem: IJCB. 2015;30(1):11–26.
   PubMed Web of Science ®Google Scholar
• Waterham HR, Ebberink MS. Genetics and molecular basis of human peroxisome biogenesis disorders. Biochim Biophys Acta (BBA) - Mol Basis Dis. 2012;1822(9):1430–1441.
   PubMed Web of Science ®Google Scholar
• Ferdinandusse S, Finckh B, de Hingh YC, et al. Evidence for increased oxidative stress in peroxisomal D-bifunctional protein deficiency. Mol Genet Metab. 2003 Aug;79(4):281–287.
   PubMed Web of Science ®Google Scholar
• Baarine M, Beeson C, Singh A, et al. ABCD1 deletion-induced mitochondrial dysfunction is corrected by SAHA: implication for adrenoleukodystrophy. J Neurochem. 2015 May;133(3):380–396.
   PubMed Web of Science ®Google Scholar
• Kemp S, Theodoulou FL, Wanders RJA. Mammalian peroxisomal ABC transporters: from endogenous substrates to pathology and clinical significance. Br J Pharmacol. 2011;164(7):1753–1766.
   PubMed Web of Science ®Google Scholar
• Lopez-Erauskin J, Galino J, Ruiz M, et al. Impaired mitochondrial oxidative phosphorylation in the peroxisomal disease X-linked adrenoleukodystrophy. Hum Mol Genet. 2013 Aug 15;22(16):3296–3305.
   PubMed Web of Science ®Google Scholar
• Schönfeld P, Reiser G. Rotenone-like action of the branched-chain phytanic acid induces oxidative stress in mitochondria. J Biol Chem. 2006 March 17;281(11):7136–7142.
   PubMed Web of Science ®Google Scholar
• Neergheen V, Chalasani A, Wainwright L. et al. Coenzyme Q10 in the treatment of mitochondrial disease. J Inborn Errors Metab Screening. 2017; 5.
   Google Scholar
• Hargreaves IP. Coenzyme Q10 as a therapy for mitochondrial disease. Int J Biochem Cell Biol. 2014 Apr;49:105–111.
   PubMedGoogle Scholar
• Huang Y, Liu X, Cui Z, et al. Pyridoxal-5′-phosphate as an oxygenase cofactor: discovery of a carboxamide-forming, α-amino acid monooxygenase-decarboxylase. Proc Nat Acad Sci. 2018;115(5):974–979.
   PubMed Web of Science ®Google Scholar
• Turton N, Heaton RA, Ismail F, et al. The effect of organophosphate exposure on neuronal cell coenzyme Q10 status. Neurochem Res. 2020 Apr 18.
   PubMed Web of Science ®Google Scholar
• Duberley KE, Heales SJR, Abramov AY, et al. Effect of Coenzyme Q10 supplementation on mitochondrial electron transport chain activity and mitochondrial oxidative stress in Coenzyme Q10 deficient human neuronal cells. Int J Biochem Cell Biol. 2014;50:60–63.
   PubMed Web of Science ®Google Scholar
• Bentinger M, Brismar K, Dallner G. The antioxidant role of coenzyme Q. Mitochondrion. 2007 Jun;7(Suppl):S41–50.
   PubMedGoogle Scholar
• Udhayabanu T, Manole A, Rajeshwari M, et al. Riboflavin responsive mitochondrial dysfunction in neurodegenerative diseases. J Clin Med. 2017 May 5;6(5):52.
   PubMed Web of Science ®Google Scholar
• Sauve AA. NAD+ and Vitamin B3: from metabolism to therapies. J Pharmacol Exp Ther. 2008;324(3):883–893.
   PubMed Web of Science ®Google Scholar
• Manole A, Jaunmuktane Z, Hargreaves I, et al. Clinical, pathological and functional characterization of riboflavin-responsive neuropathy. Brain. 2017;140(11):2820–2837.
   PubMedGoogle Scholar
• Gerards M, van den Bosch BJC, Danhauser K, et al. Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an old gene. Brain. 2010;134(1):210–219.
   PubMedGoogle Scholar
• Olsen RK, Olpin SE, Andresen BS, et al. ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency. Brain. 2007 Aug;130(Pt 8):2045–2054.
   PubMedGoogle Scholar
• Grad LI, Lemire BD. Riboflavin enhances the assembly of mitochondrial cytochrome c oxidase in C. elegans NADH-ubiquinone oxidoreductase mutants. Biochim Biophys Acta. 2006 Feb;1757(2):115–122.
   PubMed Web of Science ®Google Scholar
• Cantó C, Houtkooper Riekelt H, Pirinen E, et al. The NAD+ precursor nicotinamide riboside enhances oxidative metabolism and protects against high-fat diet-induced obesity. Cell Metab. 2012;15(6):838–847.
   PubMed Web of Science ®Google Scholar
• Jia H, Li X, Gao H, et al. High doses of nicotinamide prevent oxidative mitochondrial dysfunction in a cellular model and improve motor deficit in a Drosophila model of Parkinson’s disease. J Neurosci Res. 2008;86(9):2083–2090.
   PubMed Web of Science ®Google Scholar
• Kirsch M, Groot HD. NAD(P)H, a directly operating antioxidant? Faseb J. 2001;15(9):1569–1574.
   PubMed Web of Science ®Google Scholar
• Cantó C, Menzies KJ, Auwerx J. NAD(+) metabolism and the control of energy homeostasis: a balancing act between mitochondria and the nucleus. Cell Metab. 2015;22(1):31–53.
   PubMed Web of Science ®Google Scholar
• Rodgers JT, Lerin C, Gerhart-Hines Z, et al. Metabolic adaptations through the PGC-1 alpha and SIRT1 pathways. FEBS Lett. 2008;582(1):46–53.
   PubMed Web of Science ®Google Scholar
• Khan NA, Auranen M, Paetau I, et al. Effective treatment of mitochondrial myopathy by nicotinamide riboside, a vitamin B3. EMBO Mol Med. 2014;6(6):721–731.
   PubMed Web of Science ®Google Scholar
• Heaton R, Millichap L, Saleem F, et al. Current biochemical treatments of mitochondrial respiratory chain disorders. Expert Opin Orphan Drugs. 2019;7(6):277–285.
   Web of Science ®Google Scholar
• Turrens JF. Mitochondrial formation of reactive oxygen species. J Physiol. 2003;552(Pt 2):335–344.
   PubMed Web of Science ®Google Scholar
• Sanoobar M, Eghtesadi S, Azimi A, et al. Coenzyme Q10 supplementation reduces oxidative stress and increases antioxidant enzyme activity in patients with relapsing-remitting multiple sclerosis. Int J Neurosci. 2013 Nov;123(11):776–782.
   PubMed Web of Science ®Google Scholar
• Poljsak B, Šuput D, Milisav I. Achieving the balance between ROS and antioxidants: when to use the synthetic antioxidants. Oxid Med Cell Longev. 2013;2013:956792.
   PubMed Web of Science ®Google Scholar
• de la Mata M, Cotán D, Oropesa-Ávila M, et al. Coenzyme Q(10) partially restores pathological alterations in a macrophage model of Gaucher disease. Orphanet J Rare Dis. 2017;12(1):23.
   PubMedGoogle Scholar
• Wainwright L Mechanisms of coenzyme Q10 blood-brain barrier transport 2018.
   Google Scholar
• Baumgartner S, Mensink RP, Haenen GR, et al. The effects of vitamin E or lipoic acid supplementation on oxyphytosterols in subjects with elevated oxidative stress: a randomized trial. Sci Rep. 2017;7(1):15288.
   PubMedGoogle Scholar
• Maharjan S, Sakai Y, Hoseki J. Screening of dietary antioxidants against mitochondria-mediated oxidative stress by visualization of intracellular redox state. Biosci Biotechnol Biochem. 2016;80(4):726–734.
   PubMed Web of Science ®Google Scholar
• Harris CB, Chowanadisai W, Mishchuk DO, et al. Dietary pyrroloquinoline quinone (PQQ) alters indicators of inflammation and mitochondrial-related metabolism in human subjects. J Nutr Biochem. 2013 Dec;24(12):2076–2084 (refer previous published articles for examples).
   PubMed Web of Science ®Google Scholar
• Derosa G, D’Angelo A, Romano D, et al. A clinical trial about a food supplement containing α-lipoic acid on oxidative stress markers in type 2 diabetic patients. Int J Mol Sci. 2016;17(11):1802 (refer previous published articles for examples).
   Web of Science ®Google Scholar
• Khalili M, Eghtesadi S, Mirshafiey A, et al. Effect of lipoic acid consumption on oxidative stress among multiple sclerosis patients: a randomized controlled clinical trial. Nutr Neurosci. 2014 Jan;17(1):16–20 (refer previous published articles for examples).
   PubMed Web of Science ®Google Scholar
• McMackin CJ, Widlansky ME, Hamburg NM, et al. Effect of combined treatment with alpha-Lipoic acid and acetyl-L-carnitine on vascular function and blood pressure in patients with coronary artery disease. J Clin Hypertens (Greenwich). 2007 Apr;9(4):249–255 (refer previous published articles for examples).
   PubMedGoogle Scholar
• Zhang L, Zhang Z, Khan A, et al. Advances in drug therapy for mitochondrial diseases. Ann Transl Med. 2020;8(1):17 (refer previous published articles for examples).
   Web of Science ®Google Scholar
• Polyak E, Ostrovsky J, Peng M, et al. N-acetylcysteine and vitamin E rescue animal longevity and cellular oxidative stress in pre-clinical models of mitochondrial complex I disease. Mol Genet Metab. 2018;123(4):449–462 (refer previous published articles for examples).
   PubMed Web of Science ®Google Scholar
• Fernandes CG, Leipnitz G, Seminotti B, et al. Experimental evidence that phenylalanine provokes oxidative stress in hippocampus and cerebral cortex of developing rats. Cell Mol Neurobiol. 2010 Mar;30(2):317–326.
   PubMed Web of Science ®Google Scholar
• Martinelli D, Catteruccia M, Piemonte F, et al. EPI-743 reverses the progression of the pediatric mitochondrial disease–genetically defined Leigh Syndrome. Mol Genet Metab. 2012 Nov;107(3):383–388.
   PubMed Web of Science ®Google Scholar
• Enns GM, Cowan TM. Glutathione as a redox biomarker in mitochondrial disease-implications for therapy. J Clin Med. 2017. DOI:10.3390/jcm6050050
   PubMed Web of Science ®Google Scholar
• Tardiolo G, Bramanti P, Mazzon E. Overview on the effects of N-acetylcysteine in neurodegenerative diseases. Molecules. 2018;23(12):3305.
   PubMed Web of Science ®Google Scholar
• Reyes RC, Cittolin-Santos GF, Kim J-E, et al. Neuronal glutathione content and antioxidant capacity can be normalized in situ by N-acetyl cysteine concentrations attained in human cerebrospinal fluid. Neurotherapeutics. 2016;13(1):217–225.
   PubMed Web of Science ®Google Scholar
• Kerksick C, Willoughby D. The antioxidant role of glutathione and N-Acetyl-cysteine supplements and exercise-induced oxidative stress. J Int Soc Sports Nutr. 2005;2(2):38.
   PubMedGoogle Scholar
• Ikejiri Y, Mori E, Ishii K, et al. Idebenone improves cerebral mitochondrial oxidative metabolism in a patient with MELAS. Neurology. 1996 Aug;47(2):583–585.
   PubMed Web of Science ®Google Scholar
• Klopstock T, Yu-Wai-Man P, Dimitriadis K, et al. A randomized placebo-controlled trial of idebenone in Leber’s hereditary optic neuropathy. Brain. 2011 Sep;134(Pt 9):2677–2686.
   PubMed Web of Science ®Google Scholar
• Rudolph G, Dimitriadis K, Büchner B, et al. Effects of idebenone on color vision in patients with leber hereditary optic neuropathy. J Neuroophthalmol. 2013;33(1):30–36.
   PubMed Web of Science ®Google Scholar
• Kerr DS. Review of clinical trials for mitochondrial disorders: 1997–2012. Neurotherapeutics. 2013 Apr;10(2):307–319.
   PubMed Web of Science ®Google Scholar
• Chan SHH, Chan JYH. Mitochondria and reactive oxygen species contribute to neurogenic hypertension. Physiology. 2017;32(4):308–321.
   PubMed Web of Science ®Google Scholar
• Jornayvaz FR, Shulman GI. Regulation of mitochondrial biogenesis. Essays Biochem. 2010;47:69–84.
   PubMed Web of Science ®Google Scholar
• Fernandez-Marcos PJ, Auwerx J. Regulation of PGC-1α, a nodal regulator of mitochondrial biogenesis. Am J Clin Nutr. 2011;93(4):884S–90.
   PubMed Web of Science ®Google Scholar
• Kuo YT, Shih PH, Kao SH, et al. Pyrroloquinoline quinone resists denervation-induced skeletal muscle atrophy by activating PGC-1α and integrating mitochondrial electron transport chain complexes. PLoS One. 2015;10(12):e0143600.
   PubMed Web of Science ®Google Scholar
• He K, Nukada H, Urakami T, et al. Antioxidant and pro-oxidant properties of pyrroloquinoline quinone (PQQ): implications for its function in biological systems. Biochem Pharmacol. 2003 Jan 1;65(1):67–74.
   PubMed Web of Science ®Google Scholar
• Lu J, Chen S, Shen M, et al. Mitochondrial regulation by pyrroloquinoline quinone prevents rotenone-induced neurotoxicity in Parkinson’s disease models. Neurosci Lett. 2018 Nov;20(687):104–110.
   Google Scholar
• Chowanadisai W, Bauerly KA, Tchaparian E, et al. Pyrroloquinoline quinone stimulates mitochondrial biogenesis through cAMP response element-binding protein phosphorylation and increased PGC-1alpha expression. J Biol Chem. 2010;285(1):142–152.
   PubMed Web of Science ®Google Scholar
• Saihara K, Kamikubo R, Ikemoto K, et al. Pyrroloquinoline Quinone, a Redox-Active o-Quinone, Stimulates mitochondrial biogenesis by activating the SIRT1/PGC-1α signaling pathway. Biochemistry. 2017 Dec 19;56(50):6615–6625.
   PubMed Web of Science ®Google Scholar
• Tinggi U. Selenium: its role as antioxidant in human health. Environ Health Prev Med. 2008;13(2):102–108.
   PubMedGoogle Scholar
• Mendelev N, Mehta SL, Idris H, et al. Selenite stimulates mitochondrial biogenesis signaling and enhances mitochondrial functional performance in murine hippocampal neuronal cells. Plos One. 2012;7(10):e47910.
   PubMed Web of Science ®Google Scholar
• Du K, Montminy M. CREB is a regulatory target for the protein kinase Akt/PKB. J Biol Chem. 1998 Dec 4;273(49):32377–32379.
   PubMed Web of Science ®Google Scholar
• Mehta SL, Kumari S, Mendelev N, et al. Selenium preserves mitochondrial function, stimulates mitochondrial biogenesis, and reduces infarct volume after focal cerebral ischemia. BMC Neurosci. 2012;13:79.
   PubMed Web of Science ®Google Scholar
• Mangiapane E, Pessione A, Pessione E. Selenium and selenoproteins: an overview on different biological systems. Curr Protein Pept Sci. 2014;15(6):598–607.
   PubMed Web of Science ®Google Scholar
• Oliveira-Silva JA, Yamamoto JUP, Oliveira RB, et al. Oxidative stress assessment by glutathione peroxidase activity and glutathione levels in response to selenium supplementation in patients with Mucopolysaccharidosis I, II and VI. Genet Mol Biol. 2019 Jan-Mar;42(1):1–8.
   PubMed Web of Science ®Google Scholar
• Hargreaves IP, Mantle D. Supplementation with selenium and coenzyme Q10 in critically ill patients. Br J Hosp Med (Lond). 2019 Oct 2;80(10):589–593.
   PubMed Web of Science ®Google Scholar
• Xia L, Nordman T, Olsson JM, et al. The mammalian cytosolic selenoenzyme thioredoxin reductase reduces ubiquinone. A novel mechanism for defense against oxidative stress. J Biol Chem. 2003 Jan 24;278(4):2141–2146.
   PubMed Web of Science ®Google Scholar
• Moosmann B, Behl C. Selenoproteins, cholesterol-lowering drugs, and the consequences: revisiting of the mevalonate pathway. Trends Cardiovasc Med. 2004 Oct;14(7):273–281.
   PubMed Web of Science ®Google Scholar
• Malapaka RRV, Khoo S, Zhang J, et al. Identification and mechanism of 10-carbon fatty acid as modulating ligand of peroxisome proliferator-activated receptors. J Biol Chem. 2012;287(1):183–195.
   PubMed Web of Science ®Google Scholar
• Liang H, Ward WF. PGC-1α: a key regulator of energy metabolism. Adv Physiol Educ. 2006;30(4):145–151.
   PubMed Web of Science ®Google Scholar
• Kanabus M, Fassone E, Hughes SD, et al. The pleiotropic effects of decanoic acid treatment on mitochondrial function in fibroblasts from patients with complex I deficient Leigh syndrome. J Inherit Metab Dis. 2016;39(3):415–426.
   PubMed Web of Science ®Google Scholar
• Hughes SD, Kanabus M, Anderson G, et al. The ketogenic diet component decanoic acid increases mitochondrial citrate synthase and complex I activity in neuronal cells. J Neurochem. 2014 May;129(3):426–433.
   PubMed Web of Science ®Google Scholar
• Greco T, Glenn TC, Hovda DA, et al. Ketogenic diet decreases oxidative stress and improves mitochondrial respiratory complex activity. J Cereb Blood Flow and Metab. 2016;36(9):1603–1613.
   PubMed Web of Science ®Google Scholar
• Hasan-Olive MM, Lauritzen KH, Ali M, et al. A ketogenic diet improves mitochondrial biogenesis and bioenergetics via the PGC1α-SIRT3-UCP2 axis. Neurochem Res. 2019 Jan;44(1):22–37.
   PubMed Web of Science ®Google Scholar
• Ford S, O’Driscoll M, MacDonald A. Living with Phenylketonuria: lessons from the PKU community. Mol Genet Metab Rep. 2018;17:57–63.
   PubMed Web of Science ®Google Scholar
• Robert M, Rocha JC, van Rijn M, et al. Micronutrient status in phenylketonuria. Mol Genet Metab. 2013;110:S6–S17.
   PubMed Web of Science ®Google Scholar
• Liguori I, Russo G, Curcio F, et al. Oxidative stress, aging, and diseases. Clin Interv Aging. 2018;13:757–772.
   PubMed Web of Science ®Google Scholar
• Plotegher N, Duchen MR. Mitochondrial dysfunction and neurodegeneration in lysosomal storage disorders. Trends Mol Med. 2017;23(2):116–134.
   PubMed Web of Science ®Google Scholar
• Yambire KF, Fernandez-Mosquera L, Steinfeld R, et al. Mitochondrial biogenesis is transcriptionally repressed in lysosomal lipid storage diseases. eLife. 2019;8:e39598.
   PubMed Web of Science ®Google Scholar
• Ivankovic D, Chau KY, Schapira AH, et al. Mitochondrial and lysosomal biogenesis are activated following PINK1/parkin-mediated mitophagy. J Neurochem. 2016 Jan;136(2):388–402.
   PubMed Web of Science ®Google Scholar
• Zhou X, Yang J, Zhou M, et al. Resveratrol attenuates endothelial oxidative injury by inducing autophagy via the activation of transcription factor EB. Nutr Metab (Lond). 2019;16(1):42.
   PubMedGoogle Scholar
• Csiszar A, Labinskyy N, Pinto JT, et al. Resveratrol induces mitochondrial biogenesis in endothelial cells. Am J Physiol Heart Circ Physiol. 2009;297(1):H13–H20.
   PubMed Web of Science ®Google Scholar