The genetics and pathology of mitochondrial disease, J. Pathol, vol.241, pp.236-250, 2017. ,
Pharmacological approaches to restore mitochondrial function, Nat. Rev. Drug Discov, vol.12, pp.465-483, 2013. ,
Mitochondrial Dysfunction in Huntington's Disease, Adv. Exp. Med. Biol, vol.1049, pp.59-83, 2018. ,
Crosstalk between mitochondrial dysfunction, oxidative stress, and age related neurodegenerative disease: Etiologies and therapeutic strategies, Life Sci, vol.218, pp.165-184, 2019. ,
Targeting mitochondrial dysfunction and oxidative stress in heart failure: Challenges and opportunities. Free Radic, Biol. Med, vol.129, pp.155-168, 2018. ,
Mitochondrial Function, Biology, and Role in Disease: A Scientific Statement From the American Heart Association, Circ. Res, vol.118, 1960. ,
The role of mitochondria in the pathogenesis of type 2 diabetes, Endocr. Rev, vol.31, pp.364-395, 2010. ,
Toward bioenergetic modulation therapy and the training of a new generation of European scientists, Int. J. Biochem. Cell Biol, vol.63, pp.2-9, 2015. ,
, C. Mitochondria and Cancer. Cell, vol.166, pp.555-566, 2016.
Therapies for mitochondrial diseases and current clinical trials, Mol. Genet. Metab, vol.122, pp.1-9, 2017. ,
Mitochondrial disorders in children: Toward development of small-molecule treatment strategies, EMBO Mol. Med, vol.8, pp.311-327, 2016. ,
Towards a therapy for mitochondrial disease: An update, Biochem. Soc. Trans, vol.46, pp.1247-1261, 2018. ,
Emerging therapies for mitochondrial diseases, Essays Biochem, vol.62, pp.467-481, 2018. ,
The Biochemistry and Physiology of Mitochondrial Fatty Acid beta-Oxidation and Its Genetic Disorders, Annu. Rev. Physiol, 2015. ,
Disorders of mitochondrial long-chain fatty acid oxidation and the carnitine shuttle, Rev. Endocr. Metab. Disord, vol.19, pp.93-106, 2018. ,
Ogier de Baulny, H. Clinical and biological features at diagnosis in mitochondrial fatty acid beta-oxidation defects: A French pediatric study from 187 patients. Complementary data, J. Inherit. Metab. Dis, vol.37, pp.137-139, 2014. ,
Fatty acid oxidation disorders, Ann. Transl. Med, vol.6, 2018. ,
Pathophysiology of fatty acid oxidation disorders and resultant phenotypic variability, J. Inherit. Metab. Dis, vol.36, pp.645-658, 2013. ,
Clinical and genetic characteristics of patients with fatty acid oxidation disorders identified by newborn screening, BMC Pediatr, vol.18, 2018. ,
Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States, Mol. Genet. Metab, vol.116, pp.139-145, 2015. ,
Management and diagnosis of mitochondrial fatty acid oxidation disorders: Focus on very-long-chain acyl-CoA dehydrogenase deficiency, J. Hum. Genet, vol.64, pp.73-85, 2019. ,
Application of Next-Generation Sequencing Following Tandem Mass Spectrometry to Expand Newborn Screening for Inborn Errors of Metabolism: A Multicenter Study, Front. Genet, vol.10, 2019. ,
The crystal structure of carnitine palmitoyltransferase 2 and implications for diabetes treatment, Structure, vol.14, pp.713-723, 2006. ,
CPT2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiency, Mol. Genet. Metab, vol.94, pp.422-427, 2008. ,
Carnitine palmitoyltransferases 1 and 2: Biochemical, molecular and medical aspects, Mol. Asp. Med, vol.25, pp.495-520, 2004. ,
Developmental regulation and localization of carnitine palmitoyltransferases (CPTs) in rat brain, J. Neurochem, vol.142, pp.407-419, 2017. ,
Fatty acids in energy metabolism of the central nervous system, BioMed Res. Int, 2014. ,
A Fatty Acid Oxidation-Dependent Metabolic Shift Regulates Adult Neural Stem Cell Activity, vol.20, pp.2144-2155, 2017. ,
Inborn Errors of Long-Chain Fatty Acid beta-Oxidation Link Neural Stem Cell Self-Renewal to, Autism. Cell Rep, vol.14, pp.991-999, 2016. ,
Structural basis for substrate fatty acyl chain specificity: Crystal structure of human very-long-chain acyl-CoA dehydrogenase, J. Biol. Chem, vol.283, pp.9435-9443, 2008. ,
Mitochondrial long chain fatty acid beta-oxidation in man and mouse, Biochim. Biophys. Acta, vol.1791, pp.806-815, 2009. ,
The diagnostic challenge in very-long chain acyl-CoA dehydrogenase deficiency (VLCADD), J. Inherit. Metab. Dis, vol.41, pp.1169-1178, 2018. ,
VLCAD deficiency: Follow-up and outcome of patients diagnosed through newborn screening in Victoria, Mol. Genet. Metab, vol.118, pp.282-287, 2016. ,
Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database, Mol. Genet. Metab, vol.118, pp.272-281, 2016. ,
Follow-up of fatty acid beta-oxidation disorders in expanded newborn screening era, Eur. J. Pediatr, 2019. ,
Impact of NBS for VLCAD deficiency on genetic, enzymatic and clinical outcomes, J. Inherit. Metab. Dis, 2019. ,
Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency, Am. J. Hum. Genet, vol.64, pp.479-494, 1999. ,
Fatty acid oxidation flux predicts the clinical severity of VLCAD deficiency, Genet. Med. Off. J. Am. Coll. Med. Genet, vol.17, pp.989-994, 2015. ,
Genetic basis for correction of very-long-chain acyl-coenzyme A dehydrogenase deficiency by bezafibrate in patient fibroblasts: Toward a genotype-based therapy, Am. J. Hum. Genet, vol.81, pp.1133-1143, 2007. ,
Structural and functional characterization of the recombinant human mitochondrial trifunctional protein, Biochemistry, vol.49, pp.8608-8617, 2010. ,
General mitochondrial trifunctional protein (TFP) deficiency as a result of either alpha-or beta-subunit mutations exhibits similar phenotypes because mutations in either subunit alter TFP complex expression and subunit turnover, Pediatr. Res, vol.55, pp.190-196, 2004. ,
Fatty acid oxidation defects as a cause of neuromyopathic disease in infants and adults, Clin. Lab, vol.51, pp.289-306, 2005. ,
Clinical and molecular aspects of Japanese patients with mitochondrial trifunctional protein deficiency, Mol. Genet. Metab, vol.98, pp.372-377, 2009. ,
Human diseases associated with defects in assembly of OXPHOS complexes, Essays Biochem, vol.62, pp.271-286, 2018. ,
Mitochondrial diseases, Nat. Rev. Dis. Primers, vol.2, 2016. ,
Monogenic mitochondrial disorders, N. Engl. J. Med, vol.366, pp.1132-1141, 2012. ,
DOI : 10.1056/nejmra1012478
URL : https://repository.ubn.ru.nl/bitstream/2066/108720/1/108720.pdf
Recent Advances in Mitochondrial Disease, Annu. Rev. Genomics Hum. Genet, vol.18, pp.257-275, 2017. ,
Mammalian mitochondrial complex I: Biogenesis, regulation, and reactive oxygen species generation, Antioxid. Redox Signal, vol.12, pp.1431-1470, 2010. ,
DOI : 10.1089/ars.2009.2743
URL : https://repository.ubn.ru.nl/bitstream/2066/87452/1/87452.pdf
Complex I deficiency: Clinical features, biochemistry and molecular genetics, J. Med. Genet, vol.49, pp.578-590, 2012. ,
DOI : 10.1136/jmedgenet-2012-101159
URL : https://jmg.bmj.com/content/49/9/578.full.pdf
Molecular base of biochemical complex I deficiency, vol.12, pp.520-532, 2012. ,
DOI : 10.1016/j.mito.2012.07.106
Complex I disorders: Causes, mechanisms, and development of treatment strategies at the cellular level, Dev. Disabil. Res. Rev, vol.16, pp.175-182, 2010. ,
Differences in assembly or stability of complex I and other mitochondrial OXPHOS complexes in inherited complex I deficiency, Hum. Mol. Genet, vol.13, pp.659-667, 2004. ,
Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: What we learned from 130 cases, J. Inherit. Metab. Dis, vol.35, pp.737-747, 2012. ,
Broad phenotypic variability in patients with complex I deficiency due to mutations in NDUFS1 and NDUFV1. Mitochondrion, vol.21, pp.33-40, 2015. ,
Identification and characterization of a common set of complex I assembly intermediates in mitochondria from patients with complex I deficiency, J. Biol. Chem, vol.278, pp.43081-43088, 2003. ,
Human NADH:ubiquinone oxidoreductase deficiency: Radical changes in mitochondrial morphology?, Am. J. Physiol. Cell Physiol, vol.293, pp.22-29, 2007. ,
Cytochrome c oxidase deficiency: Patients and animal models, Biochim. Biophys. Acta, vol.1802, pp.100-110, 2010. ,
Human mitochondrial cytochrome c oxidase assembly factor COX18 acts transiently as a membrane insertase within the subunit 2 maturation module, J. Biol. Chem, vol.292, pp.7774-7783, 2017. ,
Retrospective, multicentric study of 180 children with cytochrome C oxidase deficiency, Pediatr. Res, vol.59, pp.21-26, 2006. ,
Tissue-and species-specific differences in cytochrome c oxidase assembly induced by SURF1 defects, Biochim. Biophys. Acta, vol.1862, pp.705-715, 2016. ,
COX16 is required for assembly of cytochrome c oxidase in human cells and is involved in copper delivery to COX2, Biochim. Biophys. Acta Bioenerg, vol.1859, pp.244-252, 2018. ,
Respiratory Chain Complex Disorganization Impairs Mitochondrial and Cellular Integrity: Phenotypic Variation in Cytochrome c Oxidase Deficiency, Am. J. Pathol, vol.187, pp.110-121, 2017. ,
Mitochondrial cytochrome c oxidase deficiency, Clin. Sci, vol.130, pp.393-407, 2016. ,
Identification of drug candidates which increase cytochrome c oxidase activity in deficient patient fibroblasts, vol.11, pp.264-272, 2011. ,
Serendipity and the discovery of novel compounds that restore mitochondrial plasticity, Clin. Pharmacol. Ther, vol.96, pp.672-683, 2014. ,
Large-scale chemical dissection of mitochondrial function, Nat. Biotechnol, vol.26, pp.343-351, 2008. ,
Development of pharmacological strategies for mitochondrial disorders, Br. J. Pharmacol, vol.171, pp.1798-1817, 2014. ,
Fibrates are an essential part of modern anti-dyslipidemic arsenal: Spotlight on atherogenic dyslipidemia and residual risk reduction, Cardiovasc. Diabetol, vol.11, 2012. ,
From molecular action to physiological outputs: Peroxisome proliferator-activated receptors are nuclear receptors at the crossroads of key cellular functions, Prog. Lipid Res, vol.45, pp.120-159, 2006. ,
The Role of PPARalpha Activation in Liver and Muscle, PPAR Res, 2010. ,
Integrated physiology and systems biology of PPARalpha, Mol. Metab, vol.3, pp.354-371, 2014. ,
Sorting out the roles of PPAR alpha in energy metabolism and vascular homeostasis, J. Clin. Investig, vol.116, pp.571-580, 2006. ,
PPARdelta in humans: Genetic and pharmacological evidence for a significant metabolic function, Curr. Opin. Lipidol, vol.20, pp.333-336, 2009. ,
Roles of Peroxisome Proliferator-Activated Receptor beta/delta in skeletal muscle physiology, vol.136, pp.42-48, 2017. ,
Transcriptional control of physiological and pathological processes by the nuclear receptor PPARbeta/delta, Prog. Lipid Res, vol.64, pp.98-122, 2016. ,
PPARgamma signaling and metabolism: The good, the bad and the future, Nat. Med, vol.19, pp.557-566, 2013. ,
PPARs and ERRs: Molecular mediators of mitochondrial metabolism, Curr. Opin. Cell Biol, vol.33, pp.49-54, 2015. ,
Correction of fatty acid oxidation in carnitine palmitoyl transferase 2-deficient cultured skin fibroblasts by bezafibrate, Pediatr. Res, vol.54, pp.446-451, 2003. ,
Bezafibrate upregulates carnitine palmitoyltransferase II expression and promotes mitochondrial energy crisis dissipation in fibroblasts of patients with influenza-associated encephalopathy, Mol. Genet. Metab, vol.104, pp.265-272, 2011. ,
Peroxisome Proliferator Activated Receptor delta (PPAR?) Agonist But Not PPAR alpha Corrects Carnitine Palmitoyl Transferase 2 Deficiency in Human Muscle Cells, J. Clin. Endocrinol. Metab, vol.90, pp.1791-1797, 2005. ,
, Could tissue targeting pave the way? Biochimie, vol.136, pp.100-104, 2017.
Bezafibrate is a dual ligand for PPARalpha and PPARbeta: Studies using null mice, Biochim. Biophys. Acta, vol.1632, pp.80-89, 2003. ,
Dual and pan-peroxisome proliferator-activated receptors (PPAR) co-agonism: The bezafibrate lessons, Cardiovasc. Diabetol, 2005. ,
Bezafibrate can be a new treatment option for mitochondrial fatty acid oxidation disorders: Evaluation by in vitro probe acylcarnitine assay, Mol. Genet. Metab, vol.107, pp.87-91, 2012. ,
Functional analysis of iPSC-derived myocytes from a patient with carnitine palmitoyltransferase II deficiency, Biochem. Biophys. Res. Commun, vol.448, pp.175-181, 2014. ,
Bezafibrate increases very-long-chain acyl-CoA dehydrogenase protein and mRNA expression in deficient fibroblasts and is a potential therapy for fatty acid oxidation disorders, Hum. Mol. Genet, vol.14, pp.2695-2703, 2005. ,
Compared effects of missense mutations in Very-Long-Chain Acyl-CoA Dehydrogenase deficiency: Combined analysis by structural, functional and pharmacological approaches, Biochim. Biophys. Acta, vol.1802, pp.478-484, 2010. ,
Effect of heat stress and bezafibrate on mitochondrial beta-oxidation: Comparison between cultured cells from normal and mitochondrial fatty acid oxidation disorder children using in vitro probe acylcarnitine profiling assay, Brain Dev, vol.32, pp.362-370, 2010. ,
Mitochondrial trifunctional protein deficiency in human cultured fibroblasts: Effects of bezafibrate, J. Inherit. Metab. Dis, vol.39, pp.47-58, 2016. ,
Peroxisome proliferator-activated receptor gamma coactivator 1 coactivators, energy homeostasis, and metabolism, Endocr. Rev, vol.27, pp.728-735, 2006. ,
Transcriptional integration of mitochondrial biogenesis, Trends Endocrinol. Metab. TEM, vol.23, pp.459-466, 2012. ,
Thiazolidinediones and rexinoids induce peroxisome proliferator-activated receptor-coactivator (PGC)-1alpha gene transcription: An autoregulatory loop controls PGC-1alpha expression in adipocytes via peroxisome proliferator-activated receptor-gamma coactivation, Endocrinology, vol.147, pp.2829-2838, 2006. ,
PGC1alpha expression is controlled in skeletal muscles by PPARbeta, whose ablation results in fiber-type switching, obesity, and type 2 diabetes, Cell Metab, vol.4, pp.407-414, 2006. ,
URL : https://hal.archives-ouvertes.fr/hal-00188136
Mechanism of cardiomyocyte PGC-1alpha gene regulation by ERRalpha, Biochem. Cell Biol. Biochim. Biol. Cell, vol.91, pp.148-154, 2013. ,
Estrogen related receptors (ERRs): A new dawn in transcriptional control of mitochondrial gene networks, vol.11, pp.544-552, 2011. ,
Transcriptional control of energy homeostasis by the estrogen-related receptors, Endocr. Rev, vol.29, pp.677-696, 2008. ,
Bezafibrate for treatment of an inborn mitochondrial ß-oxidation defect, N. Engl. J. Med, vol.360, pp.838-840, 2009. ,
A new AMPK activator, GSK773, corrects fatty acid oxidation and differentiation defect in CPT2-deficient myotubes, Hum. Mol. Genet, vol.27, pp.3417-3433, 2018. ,
Stilbenes and resveratrol metabolites improve mitochondrial fatty acid oxidation defects in human fibroblasts, Orphanet J. Rare Dis, vol.9, p.79, 2014. ,
Exposure to resveratrol triggers pharmacological correction of fatty acid utilization in human fatty acid oxidation-deficient fibroblasts, Hum. Mol. Genet, 2011. ,
Mitochondrial energetics is impaired in very long-chain acyl-CoA dehydrogenase deficiency and can be rescued by treatment with mitochondria-targeted electron scavengers, Hum. Mol. Genet, 2018. ,
Tein, I. Vulnerability to oxidative stress in vitro in pathophysiology of mitochondrial short-chain acyl-CoA dehydrogenase deficiency: Response to antioxidants, PLoS ONE, vol.6, 2011. ,
Peroxisome proliferator-activated receptor delta controls muscle development and oxidative capability, FASEB J. Off. Publ. Fed. Am. Soc. Exp. Biol, vol.17, pp.2299-2301, 2003. ,
Regulation of muscle fiber type and running endurance by PPARdelta, PLoS Biol, vol.2, 2004. ,
Activation of peroxisome proliferator-activated receptor pathway stimulates the mitochondrial respiratory chain and can correct deficiencies in patients' cells lacking its components, J. Clin. Endocrinol. Metab, vol.93, pp.1433-1441, 2008. ,
Defining the action spectrum of potential PGC-1alpha activators on a mitochondrial and cellular level in vivo, Hum. Mol. Genet, vol.23, pp.2400-2415, 2014. ,
Copper and bezafibrate cooperate to rescue cytochrome c oxidase deficiency in cells of patients with SCO2 mutations, Orphanet J ,
URL : https://hal.archives-ouvertes.fr/hal-00771058
Bezafibrate induced increase in mitochondrial electron transport chain complex IV activity in human astrocytoma cells: Implications for mitochondrial cytopathies and neurodegenerative diseases, Biofactors, vol.36, pp.468-473, 2010. ,
A metabolic shift induced by a PPAR panagonist markedly reduces the effects of pathogenic mitochondrial tRNA mutations, J. Cell. Mol. Med, vol.15, pp.2317-2325, 2011. ,
Screening for active small molecules in mitochondrial complex I deficient patient's fibroblasts, reveals AICAR as the most beneficial compound, PLoS ONE, vol.6, 2011. ,
The effect of small molecules on nuclear-encoded translation diseases, Biochimie, vol.100, pp.184-191, 2014. ,
Quantifying small molecule phenotypic effects using mitochondrial morpho-functional fingerprinting and machine learning, Sci. Rep, vol.5, 2015. ,
The antioxidant Trolox restores mitochondrial membrane potential and Ca2+ -stimulated ATP production in human complex I deficiency, J. Mol. Med, vol.87, pp.515-522, 2009. ,
Mitigation of NADH: Ubiquinone oxidoreductase deficiency by chronic Trolox treatment, Biochim. Biophys. Acta, vol.1777, pp.853-859, 2008. ,
Evaluation of mitochondrial bioenergetics, dynamics, endoplasmic reticulum-mitochondria crosstalk, and reactive oxygen species in fibroblasts from patients with complex I deficiency ,
Beneficial effects of resveratrol on respiratory chain defects in patients' fibroblasts involve estrogen receptor and estrogen-related receptor alpha signaling, Hum. Mol. Genet, vol.23, pp.2106-2119, 2014. ,
Resveratrol attenuates oxidative stress in mitochondrial Complex I deficiency: Involvement of SIRT3. Free Radic, Biol. Med, vol.96, pp.190-198, 2016. ,
Pharmacological NAD-Boosting Strategies Improve Mitochondrial Homeostasis in Human Complex I-Mutant Fibroblasts, Mol. Pharmacol, vol.87, pp.965-971, 2015. ,
Dysfunctions of cellular oxidative metabolism in patients with mutations in the NDUFS1 and NDUFS4 genes of complex I, J. Biol. Chem, vol.281, pp.10374-10380, 2006. ,
Pharmacological Inhibition of poly(ADP-ribose) polymerases improves fitness and mitochondrial function in skeletal muscle, Cell Metab, vol.19, pp.1034-1041, 2014. ,
N-acetylcysteine and vitamin E rescue animal longevity and cellular oxidative stress in pre-clinical models of mitochondrial complex I disease, Mol. Genet. Metab, vol.123, pp.449-462, 2018. ,
Effect of resveratrol on cultured skin fibroblasts from patients with oxidative phosphorylation defects, Phytother. Res. PTR, vol.28, pp.312-316, 2014. ,
Des Rosiers, C. Mitochondrial vulnerability and increased susceptibility to nutrient-induced cytotoxicity in fibroblasts from leigh syndrome French canadian patients, PLoS ONE, vol.10, 2015. ,
Mitochondrial complex IV deficiency, caused by mutated COX6B1, is associated with encephalomyopathy, hydrocephalus and cardiomyopathy, Eur. J. Hum. Genet. EJHG, vol.23, pp.159-164, 2015. ,
The pathomechanism of cytochrome c oxidase deficiency includes nuclear DNA damage, Biochim. Biophys. Acta Bioenerg, vol.1859, pp.893-900, 2018. ,
The Effects of Ascorbate, N-Acetylcysteine, and Resveratrol on Fibroblasts from Patients with Mitochondrial Disorders, J. Clin. Med, vol.6, 2016. ,
Modulation of mitochondrial protein phosphorylation by soluble adenylyl cyclase ameliorates cytochrome oxidase defects, EMBO Mol. Med, vol.1, pp.392-406, 2009. ,
Transcriptional regulatory circuits controlling mitochondrial biogenesis and function, Genes Dev, vol.18, pp.357-368, 2004. ,
In Vivo Correction of COX Deficiency by Activation of the AMPK/PGC-1alpha Axis, Cell Metab, vol.14, pp.80-90, 2011. ,
Effect of bezafibrate treatment on late-onset mitochondrial myopathy in mice, Hum. Mol. Genet, vol.21, pp.526-535, 2012. ,
Long-term bezafibrate treatment improves skin and spleen phenotypes of the mtDNA mutator mouse, PLoS ONE, vol.7, 2012. ,
Species differences in the effects of bezafibrate as a potential treatment of mitochondrial disorders, Cell Metab, vol.14, pp.715-716, 2011. ,
Myopathy caused by mammalian target of rapamycin complex 1 (mTORC1) inactivation is not reversed by restoring mitochondrial function, Proc. Natl. Acad. Sci, vol.108, pp.20808-20813, 2011. ,
URL : https://hal.archives-ouvertes.fr/hal-02126913
The Effects of PPAR Stimulation on Cardiac Metabolic Pathways in Barth Syndrome Mice, Front. Pharmacol, vol.9, p.318, 2018. ,
Cardiac metabolic pathways affected in the mouse model of barth syndrome, PLoS ONE, vol.10, 2015. ,
Elucidating Mitochondrial Electron Transport Chain Supercomplexes in the Heart During Ischemia-Reperfusion, Antioxid. Redox Signal, vol.27, pp.57-69, 2017. ,
Long-term follow-up of bezafibrate treatment in patients with the myopathic form of carnitine palmitoyltransferase 2 deficiency, Clin. Pharmacol. Ther, vol.88, pp.101-108, 2010. ,
Bezafibrate in skeletal muscle fatty acid oxidation disorders: A randomized clinical trial, Neurology, vol.82, pp.607-613, 2014. ,
Open-label clinical trial of bezafibrate treatment in patients with fatty acid oxidation disorders in Japan, Mol. Genet. Metab. Rep, vol.15, pp.55-63, 2018. ,
Of the phenolic substances of white hellbore (Veratrum Grandiflorum LOES. fil.), J. Fac. Sci. Hokkaido Imp. Univ, vol.3, pp.1-16, 1940. ,
Chemical Constituents of Polygonaceous Plants. I. Studies on the Components of, Yakugaku zasshi: J. Pharm. Soc. Jpn, vol.83, pp.988-990, 1963. ,
Resveratrol improves health and survival of mice on a high-calorie diet, Nature, vol.444, pp.337-342, 2006. ,
Resveratrol improves mitochondrial function and protects against metabolic disease by activating SIRT1 and PGC-1alpha, Cell, vol.127, pp.1109-1122, 2006. ,
URL : https://hal.archives-ouvertes.fr/hal-00188005
, Nutrients, vol.8, 2016.
Resveratrol stimulates AMP kinase activity in neurons, Proc. Natl. Acad. Sci, vol.104, pp.7217-7222, 2007. ,
Improvements in skeletal muscle strength and cardiac function induced by resveratrol during exercise training contribute to enhanced exercise performance in rats, J. Physiol, vol.590, pp.2783-2799, 2012. ,
Sirtuin 1-mediated effects of exercise and resveratrol on mitochondrial biogenesis, J. Biol. Chem, vol.288, pp.6968-6979, 2013. ,
SIRT1 is required for AMPK activation and the beneficial effects of resveratrol on mitochondrial function, Cell Metab, vol.15, pp.675-690, 2012. ,
Low dose resveratrol ameliorates mitochondrial respiratory dysfunction and enhances cellular reprogramming, vol.34, pp.43-48, 2017. ,
NMR metabolomics of fibroblasts with inherited mitochondrial Complex I mutation reveals treatment-reversible lipid and amino acid metabolism alterations, Metab. Off. J. Metab. Soc, vol.14, 2018. ,
SIRT1 regulates hepatocyte lipid metabolism through activating AMP-activated protein kinase, J. Biol. Chem, vol.283, 2008. ,
DOI : 10.1074/jbc.m802187200
URL : http://www.jbc.org/content/283/29/20015.full.pdf
Resveratrol ameliorates aging-related metabolic phenotypes by inhibiting cAMP phosphodiesterases, Cell, vol.148, pp.421-433, 2012. ,
DOI : 10.1186/1753-6561-6-s3-p73
URL : https://doi.org/10.1186/1753-6561-6-s3-p73
Small molecule activators of sirtuins extend Saccharomyces cerevisiae lifespan, Nature, vol.425, pp.191-196, 2003. ,
Mammalian sirtuins: Biological insights and disease relevance, Annu. Rev. Pathol, vol.5, pp.253-295, 2010. ,
DOI : 10.1146/annurev.pathol.4.110807.092250
URL : http://europepmc.org/articles/pmc2866163?pdf=render
Sirtuins as regulators of metabolism and healthspan, Nat. Rev. Mol. Cell Biol, vol.13, pp.225-238, 2012. ,
AMPK regulates energy expenditure by modulating NAD+ metabolism and SIRT1 activity, Nature, vol.458, pp.1056-1060, 2009. ,
URL : https://hal.archives-ouvertes.fr/inserm-00383329
Interdependence of AMPK and SIRT1 for metabolic adaptation to fasting and exercise in skeletal muscle, Cell Metab, vol.11, pp.213-219, 2010. ,
Metabolic effects of resveratrol: Addressing the controversies, Cell. Mol. Life Sci. CMLS, vol.72, pp.1473-1488, 2015. ,
Mechanism of human SIRT1 activation by resveratrol, J. Biol. Chem, vol.280, pp.17187-17195, 2005. ,
Effects of resveratrol and SIRT1 on PGC-1alpha activity and mitochondrial biogenesis: A reevaluation, PLoS Biol, issue.11, 2013. ,
Substrate-specific activation of sirtuins by resveratrol, J. Biol. Chem, vol.280, pp.17038-17045, 2005. ,
and resveratrol are not direct activators of SIRT1, J. Biol. Chem, vol.285, pp.8340-8351, 2010. ,
Resveratrol acts as a mixed agonist/antagonist for estrogen receptors alpha and beta, Endocrinology, vol.141, pp.3657-3667, 2000. ,
Regulation of mitochondrial respiratory chain biogenesis by estrogens/estrogen receptors and physiological, pathological and pharmacological implications, Biochim. Biophys. Acta, vol.1793, pp.1540-1570, 2009. ,
The molecular targets of resveratrol, Biochim. Biophys. Acta, vol.1852, pp.1114-1123, 2015. ,
Berberine, a natural plant product, activates AMP-activated protein kinase with beneficial metabolic effects in diabetic and insulin-resistant states, Diabetes, vol.55, pp.2256-2264, 2006. ,
Combination of Bezafibrate and of Resveratrol or Resveratrol Derivatives for the Treatment and Prevention of Diseases Involving a Mitochondrial Energy Dysfunction, 2016. ,
AMP-activated protein kinase: nature's energy sensor, Nat. Chem. Biol, vol.7, pp.512-518, 2011. ,
AMPK: A nutrient and energy sensor that maintains energy homeostasis, Nat. Rev. Mol. Cell Biol, vol.13, pp.251-262, 2012. ,
Sensing of energy and nutrients by AMP-activated protein kinase, Am. J. Clin. Nutr, vol.93, pp.891-896, 2011. ,
AMP-activated protein kinase and its downstream transcriptional pathways, Cell. Mol. Life Sci. CMLS, vol.67, pp.3407-3423, 2010. ,
The energy sensor AMP-activated protein kinase directly regulates the mammalian FOXO3 transcription factor, J. Biol. Chem, vol.282, pp.30107-30119, 2007. ,
AMP-activated protein kinase phosphorylates transcription factors of the CREB family, J. Appl. Physiol, vol.104, pp.429-438, 1985. ,
PGC-1alpha, SIRT1 and AMPK, an energy sensing network that controls energy expenditure, Curr. Opin. Lipidol, vol.20, pp.98-105, 2009. ,
AMP-activated protein kinase (AMPK) action in skeletal muscle via direct phosphorylation of PGC-1alpha, Proc. Natl. Acad. Sci, vol.104, pp.12017-12022, 2007. ,
Regulation of PGC-1alpha, a nodal regulator of mitochondrial biogenesis, Am. J. Clin. Nutr, vol.93, pp.884-890, 2011. ,
An autoregulatory loop controls peroxisome proliferator-activated receptor gamma coactivator 1alpha expression in muscle, Proc. Natl. Acad. Sci, vol.100, pp.7111-7116, 2003. ,
AMPK: Guardian of metabolism and mitochondrial homeostasis, Nat. Rev. Mol. Cell Biol, vol.19, pp.121-135, 2018. ,
AMP-activated protein kinase mediates mitochondrial fission in response to energy stress, Science, vol.351, pp.275-281, 2016. ,
AMPK activation: A therapeutic target for type 2 diabetes?, Diabetes Metab. Syndr. Obes. Targets Ther, vol.7, pp.241-253, 2014. ,
Promise and challenges for direct small molecule AMPK activators, Biochem. Pharmacol, vol.153, pp.147-158, 2018. ,
URL : https://hal.archives-ouvertes.fr/inserm-01724341
Beyond AICA riboside: In search of new specific AMP-activated protein kinase activators, IUBMB Life, vol.61, pp.18-26, 2009. ,
AICA-riboside (acadesine), an activator of AMP-activated protein kinase with potential for application in hematologic malignancies, Expert Opin. Investig. Drugs, vol.19, pp.571-578, 2010. ,
Acadesine: The prototype adenosine regulating agent for reducing myocardial ischaemic injury, Cardiovasc. Res, vol.27, pp.43-47, 1993. ,
AMP-activated protein kinase-independent inhibition of hepatic mitochondrial oxidative phosphorylation by AICA riboside, Biochem. J, vol.404, pp.499-507, 2007. ,
URL : https://hal.archives-ouvertes.fr/hal-00478741
Identification and characterization of a small molecule AMPK activator that treats key components of type 2 diabetes and the metabolic syndrome, Cell Metab, vol.3, pp.403-416, 2006. ,
Exercise metabolism and the molecular regulation of skeletal muscle adaptation, Cell Metab, vol.17, pp.162-184, 2013. ,
Molecular networks in skeletal muscle plasticity, J. Exp. Biol, vol.219, pp.205-213, 2016. ,
Expanding roles for AMPK in skeletal muscle plasticity, Trends Endocrinol. Metab. TEM, vol.26, pp.275-286, 2015. ,
URL : https://hal.archives-ouvertes.fr/inserm-01171734
The role of AMP-activated protein kinase in the coordination of skeletal muscle turnover and energy homeostasis, Am. J. Physiol. Cell Physiol, vol.303, pp.475-485, 2012. ,
AMPK and PPARdelta agonists are exercise mimetics, Cell, vol.134, pp.405-415, 2008. ,
Sustained AMPK activation improves muscle function in a mitochondrial myopathy mouse model by promoting muscle fiber regeneration, Hum. Mol. Genet, vol.25, pp.3178-3191, 2016. ,
Metformin: From mechanisms of action to therapies, Cell Metab, vol.20, pp.953-966, 2014. ,
URL : https://hal.archives-ouvertes.fr/inserm-01171739
Pioglitazone stimulates AMP-activated protein kinase signalling and increases the expression of genes involved in adiponectin signalling, mitochondrial function and fat oxidation in human skeletal muscle in vivo: A randomised trial, Diabetologia, vol.52, pp.723-732, 2009. ,
The Anti-diabetic drugs rosiglitazone and metformin stimulate AMP-activated protein kinase through distinct signaling pathways, J. Biol. Chem, vol.277, pp.25226-25232, 2002. ,
Thiazolidinediones can rapidly activate AMP-activated protein kinase in mammalian tissues, Am. J. Physiol. Endocrinol. Metab, vol.291, pp.175-181, 2006. ,
Impaired fatty acid metabolism in type 2 diabetic skeletal muscle cells is reversed by PPARgamma agonists, Am. J. Physiol. Endocrinol. Metab, vol.289, pp.151-159, 2005. ,
Activation of human peroxisome proliferator-activated receptor (PPAR) subtypes by pioglitazone, Biochem. Biophys. Res. Commun, vol.278, pp.704-711, 2000. ,
Opposite effects of pioglitazone and rosiglitazone on mitochondrial respiration in skeletal muscle of patients with type 2 diabetes, Diabetes Obes. Metab, vol.12, pp.806-814, 2010. ,
The Pioglitazone Trek via Human PPAR Gamma: From Discovery to a Medicine at the FDA and Beyond, Front. Pharmacol, vol.9, 1093. ,
Genetic and cellular modifiers of oxidative stress: What can we learn from fatty acid oxidation defects?, Mol. Genet. Metab, vol.110, pp.31-39, 2013. ,
Redox signalling and mitochondrial stress responses; lessons from inborn errors of metabolism, J. Inherit. Metab. Dis, vol.38, pp.703-719, 2015. ,
Mitochondrial dysfunction in fatty acid oxidation disorders: Insights from human and animal studies, Biosci. Rep, vol.36, 2015. ,
Long-chain 3-hydroxy fatty acids accumulating in LCHAD and MTP deficiencies induce oxidative stress in rat brain, Neurochem. Int, vol.56, pp.930-936, 2010. ,
Toxicity of octanoate and decanoate in rat peripheral tissues: Evidence of bioenergetic dysfunction and oxidative damage induction in liver and skeletal muscle, Mol. Cell. Biochem, vol.361, pp.329-335, 2012. ,
Misfolding of short-chain acyl-CoA dehydrogenase leads to mitochondrial fission and oxidative stress, Mol. Genet. Metab, vol.100, pp.155-162, 2010. ,
Very long-/and long Chain-3-Hydroxy Acyl CoA Dehydrogenase Deficiency correlates with deregulation of the mitochondrial fusion/fission machinery, Sci. Rep, vol.8, 2018. ,
Electron transport chain-dependent and -independent mechanisms of mitochondrial H 2 O 2 emission during long-chain fatty acid oxidation, J. Biol. Chem, vol.285, pp.5748-5758, 2010. ,
Reactive oxygen species in skeletal muscle signaling, J. Signal Transduct, 2012. ,
, Cell Metab, vol.19, pp.757-766, 2014.
Pharmacological targeting of mitochondrial complex I deficiency: The cellular level and beyond, vol.12, pp.57-65, 2012. ,
Superoxide production is inversely related to complex I activity in inherited complex I deficiency, Biochim. Biophys. Acta, vol.1772, pp.373-381, 2007. ,
URL : https://hal.archives-ouvertes.fr/hal-00501647
Modulation of mitochondrial dysfunction-related oxidative stress in fibroblasts of patients with Leigh syndrome by inhibition of prooxidative p66Shc pathway, vol.37, pp.62-79, 2017. ,
The mtDNA T8993G (NARP) mutation results in an impairment of oxidative phosphorylation that can be improved by antioxidants, Hum. Mol. Genet, vol.13, pp.869-879, 2004. ,
Poll-The, B.T.; et al. Patient-derived fibroblasts indicate oxidative stress status and may justify antioxidant therapy in OXPHOS disorders, Biochim. Biophys. Acta, 1817. ,
Reactive oxygen species, oxidative stress, and cell death correlate with level of CoQ10 deficiency, FASEB J. Off. Publ. Fed. Am. Soc. Exp. Biol, vol.24, pp.3733-3743, 2010. ,
Mitochondrial bioenergetics and dynamics interplay in complex I-deficient fibroblasts, Biochim. Biophys. Acta, vol.1802, pp.443-453, 2010. ,
Mitochondrial and cytosolic thiol redox state are not detectably altered in isolated human NADH:ubiquinone oxidoreductase deficiency, Biochim. Biophys. Acta, vol.1772, pp.1041-1051, 2007. ,
URL : https://hal.archives-ouvertes.fr/hal-00501648
Coenzyme Q10 as a therapy for mitochondrial disease, Int. J. Biochem. Cell Biol, vol.49, pp.105-111, 2014. ,
Evaluating the therapeutic potential of idebenone and related quinone analogues in Leber hereditary optic neuropathy, vol.36, pp.36-42, 2017. ,
Pharmacokinetics and metabolism of idebenone in healthy male subjects, Eur. J. Clin. Pharmacol, vol.65, pp.493-501, 2009. ,
The idebenone metabolite QS10 restores electron transfer in complex I and coenzyme Q defects, Biochim. Biophys. Acta Bioenerg, vol.1859, pp.901-908, 2018. ,
Tumour suppressor SIRT3 deacetylates and activates manganese superoxide dismutase to scavenge ROS, EMBO Rep, vol.12, pp.534-541, 2011. ,
Sirt3-mediated deacetylation of evolutionarily conserved lysine 122 regulates MnSOD activity in response to stress, Mol. Cell, vol.40, pp.893-904, 2010. ,
High Sensitivity of SIRT3 Deficient Hearts to Ischemia-Reperfusion Is Associated with Mitochondrial Abnormalities, Front. Pharmacol, vol.8, p.275, 2017. ,
The NAD metabolome-A key determinant of cancer cell biology, Nat. Rev. Cancer, vol.12, pp.741-752, 2012. ,
A new systemic regulatory network for metabolism and aging-Sirt1, systemic NAD biosynthesis, and their importance, Cell Biochem. Biophys, vol.53, pp.65-74, 2009. ,
Pharmacological effects of exogenous NAD on mitochondrial bioenergetics, DNA repair, and apoptosis, Mol. Pharmacol, vol.80, pp.1136-1146, 2011. ,
New PARP targets for cancer therapy, Nat. Rev. Cancer, vol.14, pp.502-509, 2014. ,
Targeting sirtuin 1 to improve metabolism: All you need is NAD(+)?, Pharmacol. Rev, vol.64, pp.166-187, 2012. ,
The DNA damage response and cancer therapy, Nature, vol.481, pp.287-294, 2012. ,
Modulating NAD(+) metabolism, from bench to bedside, EMBO J, vol.36, pp.2670-2683, 2017. ,
NAD(+) metabolism: A therapeutic target for age-related metabolic disease, Crit. Rev. Biochem. Mol. Biol, vol.48, pp.397-408, 2013. ,
NAD(+) in aging, metabolism, and neurodegeneration, Science, vol.350, pp.1208-1213, 2015. ,
NAD(+) Metabolism and the Control of Energy Homeostasis: A Balancing Act between Mitochondria and the Nucleus, Cell Metab, vol.22, pp.31-53, 2015. ,
The secret life of NAD+: An old metabolite controlling new metabolic signaling pathways, Endocr. Rev, vol.31, pp.194-223, 2010. ,
The dynamic regulation of NAD metabolism in mitochondria, Trends Endocrinol. Metab. TEM, vol.23, pp.420-428, 2012. ,
Nicotinamide mononucleotide, a key NAD(+) intermediate, treats the pathophysiology of diet-and age-induced diabetes in mice, Cell Metab, vol.14, pp.528-536, 2011. ,
The NAD(+) precursor nicotinamide riboside enhances oxidative metabolism and protects against high-fat diet-induced obesity, Cell Metab, vol.15, pp.838-847, 2012. ,
PARP-1 inhibition increases mitochondrial metabolism through SIRT1 activation, Cell Metab, vol.13, pp.461-468, 2011. ,
URL : https://hal.archives-ouvertes.fr/hal-00586349
Sirtuin activation as a therapeutic approach against inborn errors of metabolism, J. Inherit. Metab. Dis, vol.39, pp.565-572, 2016. ,
Mitochondrial complex I deficiency increases protein acetylation and accelerates heart failure, Cell Metab, vol.18, pp.239-250, 2013. ,
PARP inhibition delays progression of mitochondrial encephalopathy in mice, Neurother. J. Am. Soc. Exp. Neurother, vol.11, pp.651-664, 2014. ,
NAD(+)-dependent activation of Sirt1 corrects the phenotype in a mouse model of mitochondrial disease, Cell Metab, vol.19, pp.1042-1049, 2014. ,
Effective treatment of mitochondrial myopathy by nicotinamide riboside, a vitamin B3, EMBO Mol. Med, vol.6, pp.721-731, 2014. ,
Nicotinamide riboside is uniquely and orally bioavailable in mice and humans, Nat. Commun, 2016. ,
Evidence for a direct effect of the NAD+ precursor acipimox on muscle mitochondrial function in humans, Diabetes, vol.64, pp.1193-1201, 2015. ,
The beta-adrenoceptor agonist isoproterenol promotes the activity of respiratory chain complex I and lowers cellular reactive oxygen species in fibroblasts and heart myoblasts, Eur. J. Pharmacol, vol.652, pp.15-22, 2011. ,
beta2-Adrenoceptor agonists in the regulation of mitochondrial biogenesis, Bioorg. Med. Chem. Lett, vol.23, pp.5376-5381, 2013. ,
Cyclic AMP produced inside mitochondria regulates oxidative phosphorylation, Cell Metab, vol.9, pp.265-276, 2009. ,
Respiratory chain complex I, a main regulatory target of the cAMP/PKA pathway is defective in different human diseases, FEBS Lett, vol.586, pp.568-577, 2012. ,
cAMP-dependent protein kinase regulates post-translational processing and expression of complex I subunits in mammalian cells, Biochim. Biophys. Acta, vol.1797, pp.649-658, 2010. ,
The beta2-adrenoceptor agonist formoterol stimulates mitochondrial biogenesis, J. Pharmacol. Exp. Ther, vol.342, pp.106-118, 2012. ,
Mitochondrial cAMP signaling, Cell. Mol. Life Sci. CMLS, vol.73, pp.4577-4590, 2016. ,
The cAMP/PKA pathway rapidly activates SIRT1 to promote fatty acid oxidation independently of changes in NAD(+), Mol. Cell, vol.44, pp.851-863, 2011. ,
Triheptanoin treatment in patients with pediatric cardiomyopathy associated with long chain-fatty acid oxidation disorders, Mol. Genet. Metab, vol.119, pp.223-231, 2016. ,
Long-term major clinical outcomes in patients with long chain fatty acid oxidation disorders before and after transition to triheptanoin treatment-A retrospective chart review, Mol. Genet. Metab, vol.116, pp.53-60, 2015. ,
ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency, Brain J. Neurol, vol.130, pp.2045-2054, 2007. ,
Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency, Am. J. Hum. Genet, vol.98, pp.1130-1145, 2016. ,
URL : https://hal.archives-ouvertes.fr/hal-01850412
ETFDH Mutations and Flavin Adenine Dinucleotide Homeostasis Disturbance Are Essential for Developing Riboflavin-Responsive Multiple Acyl-Coenzyme A Dehydrogenation Deficiency, Ann. Neurol, vol.84, pp.659-673, 2018. ,
Metabolic signaling functions of ER-mitochondria contact sites: Role in metabolic diseases, J. Mol. Endocrinol, vol.58, pp.87-106, 2017. ,
URL : https://hal.archives-ouvertes.fr/hal-01604137
Calcium Transport and Signaling in Mitochondria, Compr. Physiol, vol.7, pp.623-634, 2017. ,
The machineries, regulation and cellular functions of mitochondrial calcium, Nat. Rev. Mol. Cell Biol, vol.19, pp.713-730, 2018. ,
Pharmacological modulation of mitochondrial calcium homeostasis, J. Physiol, vol.596, pp.2717-2733, 2018. ,
Metabolic Interplay between Peroxisomes and Other Subcellular Organelles Including Mitochondria and the Endoplasmic Reticulum. Front, Cell Dev. Biol, vol.3, 2015. ,
The different facets of organelle interplay-an overview of organelle interactions, Front. Cell Dev. Biol, vol.3, 2015. ,
Systematic mapping of contact sites reveals tethers and a function for the peroxisome-mitochondria contact, Nat. Commun, vol.9, p.1761, 2018. ,
URL : https://hal.archives-ouvertes.fr/hal-01959227
Correctors of the basic trafficking defect of the mutant F508del-CFTR that causes cystic fibrosis, Curr. Opin. Chem. Biol, vol.17, pp.353-360, 2013. ,
Another Beginning for Cystic Fibrosis Therapy, N. Engl. J. Med, vol.373, pp.274-276, 2015. ,
New and emerging targeted therapies for cystic fibrosis, BMJ, vol.352, 2016. ,