Detection of Mitochondrial Diseases

Chapter 1 Diagnosis of defects in oxidative muscle metabolism by non-invasive tissue oximetry

Chapter 2 In vivo assessment of human skeletal muscle mitochondria respiration in health and disease

Chapter 3 Non-invasive quantitative 31 P MRS assay of mitochondrial function in skeletal muscle in situ

Chapter 4 Phosphorus metabolite distribution in skeletal muscle: Quantitative bioenergetics using creatine analogs

Chapter 5 A theoretical model of some spatial and temporal aspects of the mitochondrion creatine kinase myofibril system in muscle

Chapter 6 Fluxes through cytosolic and mitochondrial creatine kinase, measured by P-31 NMR

Chapter 7 Experimental evidence for dynamic compartmentation of ADP at the mitochondrial periphery: Coupling of mitochondrial adenylate kinase and mitochondrial hexokinase with oxidative phosphorylation under conditions mimicking the intracellular colloid osmotic pressure

Chapter 8 Small scale preparation of skeletal muscle mitochondria, criteria of integrity, and assays with reference to tissue function

Chapter 9 Rapid isolation of muscle and heart mitochondria, the lability of oxidative phosphorylation and attempts to stabilize the process in vitro by taurine, carnitine and other compounds

Chapter 10 Tetraphenylphosphonium inhibits oxidation of physiological substrates in heart mitochondria

Chapter 11 High resolution respirometry of permeabilized skeletal muscle fibers in the diagnosis of neuromuscular disorders

Chapter 12 Detection of early ischemic damage by analysis of mitochondrial function in skinned fibers

Chapter 13 The effects of ischemia and experimental conditions on the respiration rate of cardiac fibers

Chapter 14 Insulin as a probe of mitochondrial metabolism in situ

Chapter 15 Detection of mitochondrial defects by laser fluorimetry

Chapter 16 Oxidative phosphorylation in myocardial mitochondria ‘in situ’ : a calorimetric study on permeabilized cardiac muscle preparations

Chapter 17 Nicotinamide adenine dinucleotides permeate through mitochondrial membranes in human Epstein-Barr virus-transformed lymphocytes

Chapter 18 Reversibility of thiamine deficiency-induced partial necrosis and mitochondrial uncoupling by addition of thiamine to neuroblastoma cell suspensions

Chapter 19 Dihydroorotat-ubiquinone oxidoreductase links mitochondria in the biosynthesis of pyrimidine nucleotides

Chapter 20 Regulation of respiration and energy transduction in cytochrome c oxidase isozymes by allosteric effectors

Chapter 21 Thermodynamic regulation of cytochrome oxidase

Chapter 22 Metabolic control analysis and threshold effect in oxidative phosphorylation: Implications for mitochondrial pathologies

Chapter 23 Identification of mitochondrial deficiency using principal component analysis

Chapter 24 The mitochondrial permeability transition in toxic, hypoxic and reperfusion injury

Chapter 25 Cyclosporin A binding to mitochondrial cyclophilin inhibits the permeability transition pore and protects hearts from ischaemia/reperfusion injury

Chapter 26 Hormonal stimulation, mitochondrial Ca 2+ accumulation, and the control of the mitochondrial permeability transition in intact hepatocytes

Chapter 27 Two modes of activation of the permeability transition pore: The role of mitochondrial cyclophilin

Chapter 28 Implication of mitochondria in apoptosis

Chapter 29 Nitric oxide inhibition of cytochrome oxidase and mitochondrial respiration: Implications for inflammatory, neurodegenerative and ischaemic pathologies

Chapter 30 The role of mitochondrial dysfunction and neuronal nitric oxide in animal models of neurodegenerative diseases

Chapter 31 Role of endogenous and exogenous antioxidants in the defence against functional damage and lipid peroxidation in rat liver mitochondria

Chapter 32 Analysis of the mitochondrial DNA from patients with Wolfram (DIDMOAD) syndrome

Chapter 33 Point mutations in the mitochondrial tRNA Lys gene: Implications for pathogenesis and mechanism

Chapter 34 Detection of mitochondrial DNA deletions by a screening procedure using the polymerase chain reaction

Chapter 35 Regulation of mitochondrial transcription by mitochondrial transcription factor A

Chapter 36 Multiple mitochondrial tRNA Leu[UUR] mutations associated with infantile myopathy

Chapter 37 Carnitine palmitoyltransferase II deficiency: Diagnosis by molecular analysis of blood

Chapter 38 Defects in the mitochondrial energy metabolism outside the respiratory chain and the pyruvate dehydrogenase complex

Chapter 39 Chemical preconditioning: A cytoprotective strategy

Chapter 40 Inhibition of complex I by neuroleptics in normal human brain cortex parallels the extrapyramidal toxicity of neuroleptics

Chapter 41 Adenine nucleotide translocator in dilated cardiomyopathy: Pathophysiological alterations in expression and function

Chapter 42 Mitochondrial DNA mutations in multiple symmetric lipomatosis

Chapter 43 Mitochondrial abnormalities and peripheral neuropathy in inflammatory myopathy, especially inclusion body myositis

Chapter 44 Mitochondrial intermembrane inclusion bodies: The common denominator between human mitochondrial myopathies and creatine depletion, due to impairment of cellular energetics

Chapter 45 Metabolic interventions against complex I deficiency in MELAS syndrome

Chapter 46 Clinical, morphological, biochemical, and neuroradiological features of mitochondrial encephalomyopathies. Presentation of 19 patients

Chapter 47 Reactive oxygen species, mitochondria, apoptosis and aging

Chapter 48 Ageing: Effects on oxidative function of skeletal muscle in vivo

Chapter 49 Mitochondrial involvement in the ageing process. Facts and controversies

Chapter 50 Mitochondrial Complex I defects in aging