The molecular basis of human complex I deficiency, IUBMB life, vol.63, pp.669-677, 2011. ,
,
Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease, Brain : a journal of neurology, vol.132, pp.833-842, 2009. ,
Complex I deficiencies in neurological disorders, Trends in molecular medicine, vol.19, pp.61-69, 2013. ,
Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing, Journal of medical genetics, vol.49, pp.277-283 ,
,
Superoxide production is inversely related to complex I activity in inherited complex I deficiency, Biochimica et biophysica acta, vol.1772, pp.373-381, 2007. ,
URL : https://hal.archives-ouvertes.fr/hal-00501647
Pharmacological targeting of mitochondrial complex I deficiency: the cellular level and beyond, Mitochondrion, vol.12, pp.57-65, 2012. ,
,
, Complex I disorders: causes, mechanisms, and development of treatment strategies at the cellular level, Developmental disabilities research reviews, vol.16, pp.175-182, 2010.
,
Resveratrol and clinical trials: the crossroad from in vitro studies to human evidence, Current pharmaceutical design, vol.19, pp.6064-6093, 2013. ,
The molecular targets of resveratrol, Biochimica et biophysica acta, vol.1852, pp.1114-1123, 2015. ,
,
Beneficial effects of resveratrol on respiratory chain defects in patients' fibroblasts involve estrogen receptor and estrogen-related receptor alpha signaling, Human molecular genetics, vol.23, pp.2106-2119, 2014. ,
URL : https://hal.archives-ouvertes.fr/inserm-02894840
Neuroprotective action of resveratrol, Biochimica et biophysica acta, vol.1852, pp.1195-1201, 2015. ,
SIRT3, a pivotal actor in mitochondrial functions: metabolism, cell death and aging, The Biochemical journal, vol.444, pp.1-10, 2012. ,
Tumour suppressor SIRT3 ,
, deacetylates and activates manganese superoxide dismutase to scavenge ROS, EMBO reports, vol.12, pp.534-541, 2011.
Calorie restriction reduces oxidative stress by SIRT3-mediated SOD2 activation, Cell metabolism, vol.12, pp.662-667, 2010. ,
,
Sirt3-mediated deacetylation of evolutionarily conserved lysine 122 regulates MnSOD activity in response to stress, Molecular cell, vol.40, pp.893-904, 2010. ,
,
, Galactose enhances oxidative metabolism and reveals mitochondrial dysfunction in human primary muscle cells, PloS one, vol.6, 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. ,
Spectrophotometric assay for complex I of the respiratory chain in tissue samples and cultured fibroblasts, Clinical chemistry, vol.53, pp.729-734, 2007. ,
Determination of superoxide dismutase activity by purely chemical system based on NAD(P)H oxidation, Methods in enzymology, vol.186, pp.209-220, 1990. ,
Structural basis for antioxidant activity of trans-resveratrol: ab initio calculations and crystal and molecular structure, Journal of agricultural and food chemistry, vol.52, pp.7279-7285, 2004. ,
Mechanism for the protective effect of resveratrol against oxidative stress-induced neuronal death, Free radical biology & medicine, vol.49, pp.800-813, 2010. ,
Resveratrol interacts with estrogen receptor-beta to inhibit cell replicative growth and enhance stress resistance by upregulating mitochondrial superoxide dismutase, Free radical biology & medicine, vol.50, pp.821-831, 2011. ,
The stilbenes resveratrol, pterostilbene and piceid affect growth and stress resistance in mammalian cells via a mechanism requiring estrogen receptor beta and the induction of Mn-superoxide dismutase, Phytochemistry, vol.98, pp.164-173, 2014. ,
Dietary resveratrol administration increases MnSOD expression and activity in mouse brain, Biochemical and biophysical research communications, vol.372, pp.254-259, 2008. ,
,
Genome-wide identification of direct target genes implicates estrogen-related receptor alpha as a determinant of breast cancer heterogeneity, Cancer research, vol.69, pp.6149-6157, 2009. ,
The dynamic regulation of NAD metabolism in mitochondria, Trends in endocrinology and metabolism: TEM, vol.23, pp.420-428, 2012. ,
,
NAD(+)-dependent activation of Sirt1 corrects the phenotype in a mouse model of mitochondrial disease, Cell metabolism, vol.19, pp.1042-1049, 2014. ,
URL : https://hal.archives-ouvertes.fr/hal-02369963
Pharmacological NAD-Boosting Strategies Improve Mitochondrial Homeostasis in Human Complex I-Mutant Fibroblasts, Molecular pharmacology, vol.87, pp.965-971, 2015. ,
Effective treatment of mitochondrial myopathy by nicotinamide riboside, a vitamin B3, EMBO molecular medicine, vol.6, pp.721-731, 2014. ,
NAD(+) Metabolism and the Control of Energy Homeostasis: A Balancing Act between Mitochondria and the Nucleus, Cell metabolism, vol.22, pp.31-53 ,
NAD(+) metabolism: a therapeutic target for age-related metabolic disease, Critical reviews in biochemistry and molecular biology, vol.48, pp.397-408 ,
,
Pharmacological Inhibition of poly(ADP-ribose) polymerases improves fitness and mitochondrial function in skeletal muscle, Cell metabolism, vol.19, pp.1034-1041, 2014. ,
The secret life of NAD+: an old metabolite controlling new metabolic signaling pathways, Endocrine reviews, vol.31, pp.194-223, 2010. ,
Sirtuin-3 (SIRT3), a therapeutic target with oncogenic and tumor-suppressive function in cancer, Cell death & disease, vol.5, 1047. ,
Roles of sirtuins in the regulation of antioxidant defense and bioenergetic function of mitochondria under oxidative stress, Free radical research, vol.48, pp.1070-1084 ,
Sirtuin 3, a new target of PGC-1alpha, plays an important role in the suppression of ROS and mitochondrial biogenesis, PloS one, vol.5, 2010. ,
Mitochondria targeted therapeutic approaches in Parkinson's and Huntington's diseases, Molecular and cellular neurosciences, vol.55, pp.101-114, 2013. ,
Siblings with leukoencephalopathy, Seminars in pediatric neurology, vol.15, pp.212-215, 2008. ,
,
Rapid screening for nuclear genes mutations in isolated respiratory chain complex I defects, Molecular genetics and metabolism, vol.96, 2009. ,
,
,
The p.M292T NDUFS2 mutation causes complex Ideficient Leigh syndrome in multiple families, Brain : a journal of neurology, vol.133, pp.2952-2963, 2010. ,
A constant and similar assembly defect of mitochondrial respiratory chain complex I allows rapid identification of NDUFS4 mutations in patients with Leigh syndrome, Biochimica et biophysica acta, vol.1822, pp.1062-1069, 2012. ,
,
A novel mutation of the NDUFS7 gene leads to activation of a cryptic exon and impaired assembly of mitochondrial complex I in a patient with Leigh syndrome, Molecular genetics and metabolism, vol.92, pp.104-108, 2007. ,
A novel mutation in the human complex I NDUFS7 subunit associated with Leigh syndrome, Molecular genetics and metabolism, vol.90, pp.379-382, 2007. ,
,
01 versus the respective vehicle-treated fibroblasts ,