Epidemiology and treatment of mitochondrial disorders, Am J Med Genet, vol.106, pp.94-101, 2001. ,
, Brain, vol.127, pp.2153-2172, 2004.
Mitochondrial diseases: therapeutic approaches, Biosci Rep, vol.27, pp.125-137, 2007. ,
Human cytochrome oxidase deficiency, Pediatr Res, vol.48, pp.581-585, 2000. ,
Transcriptional regulatory circuits controlling mitochondrial biogenesis and function, Genes Dev, vol.18, pp.357-368, 2004. ,
Nuclear control of respiratory gene expression in mammalian cells, J Cell Biochem, vol.97, pp.673-683, 2006. ,
PGC-1 coactivators: inducible regulators of energy metabolism in health and disease, J Clin Invest, vol.116, pp.615-622, 2006. ,
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. ,
Minireview: lipid metabolism, metabolic diseases, and peroxisome proliferator-activated receptors, Endocrinology, vol.144, pp.2201-2207, 2003. ,
Peroxisome proliferator-activated receptor ? controls muscle development and oxidative capability, FASEB J, vol.17, pp.2299-2301, 2003. ,
Regulation of muscle fiber type and running endurance by PPAR?, PLoS Biol, vol.2, p.294, 2004. ,
PPAR?, but not PPAR?, activates PGC-1? gene transcription in muscle, Biochem Biophys Res Commun, vol.354, pp.1021-1027, 2007. ,
Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy, Hum Mutat, vol.21, pp.582-586, 2003. ,
Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency, Am J Hum Genet, vol.68, pp.1344-1352, 2001. ,
Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome, J Med Genet, vol.41, pp.14-17, 2004. ,
A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure, Nat Genet, vol.29, pp.57-60, 2001. ,
Molecular diagnostics of mitochondrial disorders, Biochim Biophys Acta, vol.1659, pp.129-135, 2004. ,
A mutation in the human heme A:farnesyltransferase gene (COX10) causes cytochrome c oxidase deficiency, Hum Mol Genet, vol.9, pp.1245-1249, 2000. ,
Mutations in SURF1 are not specifically associated with Leigh syndrome, J Med Genet, vol.38, pp.109-113, 2001. ,
Mutation screening in patients with isolated cytochrome c oxidase deficiency, Pediatr Res, vol.53, pp.224-230, 2003. ,
Cytochrome c oxidase deficiency, Am J Med Genet, vol.106, pp.46-52, 2001. ,
Peroxisome proliferator activated receptor ? (PPAR?) agonist but not PPAR? corrects carnitine palmitoyl transferase 2 deficiency in human muscle cells, J Clin Endocrinol Metab, vol.90, pp.1791-1797, 2005. ,
Fatty acid homeostasis and induction of lipid regulatory genes in skeletal muscles of peroxisome proliferator-activated receptor (PPAR) ? knock-out mice. Evidence for compensatory regulation by PPAR?, J Biol Chem, vol.277, pp.26089-26097, 2002. ,
In vivo and in organello assessment of OXPHOS activities, Methods, vol.26, pp.307-316, 2002. ,
Assay of mitochondrial respiratory chain complex I in human lymphocytes and cultured skin fibroblasts, Biochem Biophys Res Commun, vol.301, pp.222-224, 2003. ,
Munnich A 1994 Biochemical and molecular investigations in respiratory chain deficiencies, Clin Chim Acta, vol.228, pp.35-51 ,
Flux control of cytochrome c oxidase in human skeletal muscle, J Biol Chem, vol.275, pp.27741-27745, 2000. ,
Low reserve of cytochrome c oxidase capacity in vivo in the respiratory chain of a variety of human cell types, J Biol Chem, vol.273, pp.31829-31836, 1998. ,
In vivo control of respiration by cytochrome c oxidase in human cells, Free Radic Biol Med, vol.29, pp.202-210, 2000. ,
Application of inhibitor titrations for the detection of oxidative phosphorylation defects in saponin-skinned muscle fibers of patients with mitochondrial diseases, Biochim Biophys Acta, vol.1360, pp.142-150, 1997. ,
Metabolic consequences of a novel missense mutation of the mtDNA CO I gene, Hum Mol Genet, vol.11, pp.1797-1805, 2002. ,
Treatment for mitochondrial disorders, Cochrane Database Syst Rev, p.4426, 2006. ,
Cytochrome c oxidase subassemblies in fibroblast cultures from patients carrying mutations in COX10, SCO1, or SURF1, J Biol Chem, vol.279, pp.7462-7469, 2004. ,
PGC1? expression is controlled in skeletal muscles by PPAR?, whose ablation results in fiber-type switching, obesity, and type 2 diabetes, Cell Metab, vol.4, pp.407-414, 2006. ,
Mechanisms controlling mitochondrial biogenesis and respiration through the thermogenic coactivator PGC-1, Cell, vol.98, pp.115-124, 1999. ,
Dual and pan-peroxisome proliferator-activated receptors (PPAR) co-agonism: the bezafibrate lessons, Cardiovasc Diabetol, vol.4, p.14, 2005. ,
PPAR?: a dagger in the heart of the metabolic syndrome, J Clin Invest, vol.116, pp.590-597, 2006. ,
, Groop LC 2003 PGC-1?-responsive genes involved in oxidative phosphorylation are coordinately downregulated in human diabetes, vol.34, pp.267-273
Coordinated reduction of genes of oxidative metabolism in humans with insulin resistance and diabetes: potential role of PGC1 and NRF1, Proc Natl Acad Sci, vol.100, pp.8466-8471, 2003. ,