Mitochondrial medicine: A metabolic perspective on the pathology of oxidative phosphorylation disorders

Balaban, 2005, Mitochondria, oxidants, and aging, Cell, 120, 483, 10.1016/j.cell.2005.02.001

Barshop, 2004, Chronic treatment of mitochondrial disease patients with dichloroacetate, Mol. Genet. Metab., 83, 138, 10.1016/j.ymgme.2004.06.009

Battersby, 2003, Nuclear genetic control of mitochondrial DNA segregation, Nat. Genet., 33, 183, 10.1038/ng1073

Berridge, 2003, Cardiac calcium signalling, Biochem. Soc. Trans., 31, 930, 10.1042/bst0310930

Brand, 2005, Physiological functions of the mitochondrial uncoupling proteins UCP2 and UCP3, Cell Metab., 2, 85, 10.1016/j.cmet.2005.06.002

Brini, 1999, A calcium signaling defect in the pathogenesis of a mitochondrial DNA inherited oxidative phosphorylation deficiency, Nat. Med., 5, 951, 10.1038/11396

Brunelle, 2005, Oxygen sensing requires mitochondrial ROS but not oxidative phosphorylation, Cell Metab., 1, 409, 10.1016/j.cmet.2005.05.002

Cabrera, 2005, Regulation of cardiac energetics: role of redox state and cellular compartmentation during ischemia, Ann. N Y Acad. Sci., 1047, 259, 10.1196/annals.1341.023

DiMauro, 2005, Mitochondrial DNA and disease, Ann. Med., 37, 222, 10.1080/07853890510007368

Eng, 2003, A role for mitochondrial enzymes in inherited neoplasia and beyond, Nat. Rev. Cancer, 3, 193, 10.1038/nrc1013

Esteitie, 2005, Secondary metabolic effects in complex I deficiency, Ann. Neurol., 58, 544, 10.1002/ana.20570

Gattermann, 2004, Severe impairment of nucleotide synthesis through inhibition of mitochondrial respiration, Nucleosides Nucleotides Nucleic Acids, 23, 1275, 10.1081/NCN-200027545

Ghafourifar, 2005, Mitochondrial nitric oxide synthase, Trends Pharmacol. Sci., 26, 190, 10.1016/j.tips.2005.02.005

Green, 2005, Apoptotic pathways: ten minutes to dead, Cell, 121, 671, 10.1016/j.cell.2005.05.019

Guzy, 2005, Mitochondrial complex III is required for hypoxia-induced ROS production and cellular oxygen sensing, Cell Metab., 1, 401, 10.1016/j.cmet.2005.05.001

Hirano, 2005, Thymidine phosphorylase mutations cause instability of mitochondrial DNA, Gene, 354, 152, 10.1016/j.gene.2005.04.041

Isaacs, 2005, HIF overexpression correlates with biallelic loss of fumarate hydratase in renal cancer: Novel role of fumarate in regulation of HIF stability, Cancer Cell, 8, 143, 10.1016/j.ccr.2005.06.017

James, 2005, Interactions of mitochondria-targeted and untargeted ubiquinones with the mitochondrial respiratory chain and reactive oxygen species. Implications for the use of exogenous ubiquinones as therapies and experimental tools, J. Biol. Chem., 280, 21295, 10.1074/jbc.M501527200

Koga, 2002, Effects of L-arginine on the acute phase of strokes in three patients with MELAS, Neurology, 58, 827, 10.1212/WNL.58.5.827

Koopman, 2005, Inhibition of complex I of the electron transport chain causes O2-. –mediated mitochondrial outgrowth, Am. J. Physiol. Cell Physiol., 288, C1440, 10.1152/ajpcell.00607.2004

Mansfield, 2005, Mitochondrial dysfunction resulting from loss of cytochrome c impairs cellular oxygen sensing and hypoxic HIF-alpha activation, Cell Metab., 1, 393, 10.1016/j.cmet.2005.05.003

Munnich, 1992, Clinical aspects of mitochondrial disorders, J. Inherit. Metab. Dis., 15, 448, 10.1007/BF01799603

Nguyen, 2005, Mitochondrial calcium signaling and energy metabolism, Ann. N Y Acad. Sci., 1047, 127, 10.1196/annals.1341.012

Nicholls, 2005, Mitochondria and calcium signaling, Cell Calcium., 38, 311, 10.1016/j.ceca.2005.06.011

Palmieri, 2000, Identification and functions of new transporters in yeast mitochondria, Biochim. Biophys. Acta, 1459, 363, 10.1016/S0005-2728(00)00173-0

Petersen, 2005, Decreased insulin-stimulated ATP synthesis and phosphate transport in muscle of insulin-resistant offspring of Type 2 diabetic parents, PLoS Med., 2, e233, 10.1371/journal.pmed.0020233

Pollard, 2003, The TCA cycle and tumorigenesis: the examples of fumarate hydratase and succinate dehydrogenase, Ann. Med., 35, 632, 10.1080/07853890310018458

Pollard, 2005, Accumulation of Krebs cycle intermediates and over-expression of HIF1alpha in tumours which result from germline FH and SDH mutations, Hum. Mol. Genet., 14, 2231, 10.1093/hmg/ddi227

Rabier, 1998, Persistent hypocitrullinaemia as a marker for mtDNA NARP T 8993 G mutation?, J. Inherit. Metab. Dis., 21, 216, 10.1023/A:1005391300203

Rossignol, 2000, Tissue variation in the control of oxidative phosphorylation: implication for mitochondrial diseases, Biochem. J., 347, 45, 10.1042/0264-6021:3470045

Salviati, 2005, Infantile encephalomyopathy and nephropathy with CoQ10 deficiency: a CoQ10-responsive condition, Neurology, 65, 606, 10.1212/01.wnl.0000172859.55579.a7

Saraste, 1999, Oxidative phosphorylation at the fin de siecle, Science, 283, 1488, 10.1126/science.283.5407.1488

Smeitink, 2001, The genetics and pathology of oxidative phosphorylation, Nat. Rev. Genet., 2, 342, 10.1038/35072063

Smeitink, 2003, Mitochondrial disorders: clinical presentation and diagnostic dilemmas, J. Inherit. Metab. Dis., 26, 199, 10.1023/A:1024489218004

Szabo, 2005, A novel potassium channel in lymphocyte mitochondria, J. Biol. Chem., 280, 12790, 10.1074/jbc.M413548200

Tavi, 2005, Abnormal Ca(2+) release and catecholamine-induced arrhythmias in mitochondrial cardiomyopathy, Hum. Mol. Genet., 14, 1069, 10.1093/hmg/ddi119

Taylor, 2005, Mitochondrial DNA mutations in human disease, Nat. Rev. Genet., 6, 389, 10.1038/nrg1606

Visch, 2004, Inhibition of mitochondrial Na+-Ca2+ exchange restores agonist-induced ATP production and Ca2+ handling in human complex I deficiency, J. Biol. Chem., 279, 40328, 10.1074/jbc.M408068200

Walker, 2005, Mitochondrial diabetes, Diabet. Med., 22, 18, 10.1111/j.1464-5491.2005.1761f.x

Zeviani, 2004, Mitochondrial disorders, Brain, 127, 2153, 10.1093/brain/awh259