An unusual metabolic myopathy: a malate—aspartate shuttle defect

Arnold, 1984, Metabolic recovery after exercise and the assessment of mitochondrial function in human skeletal muscle by means of 31P NMR, Magnetic Res. Med., 1, 307, 10.1002/mrm.1910010303 Arnold, 1984, Excessive intracellular acidosis of skeletal muscle on exercise in a patient with post-viral exhaustion/fatigue syndrome. A 31P magnetic resonance study, Lancet, i, 1367, 10.1016/S0140-6736(84)91871-3 Arnold, 1985, Investigation of human mitochondrial myopathies by phosphorus magnetic resonance spectroscopy, Ann. Neurol., 18, 189, 10.1002/ana.410180205 Chance, 1982, 31P NMR studies of control of mitochondrial function in phosphofructokinase-deficient human skeletal muscle, 79, 7714 Chappell, 1968, Systems used for the transport of substrates into mitochondria, Br. Med. Bull., 24, 150, 10.1093/oxfordjournals.bmb.a070618 De Haan, 1968, Evidence for a permeability barrier for α-oxoglutarate in rat liver mitochondria, Biochim. Biophys. Acta, 153, 98, 10.1016/0005-2728(68)90150-3 Dubowitz, 1973 Edwards, 1982, Clinical use of nuclear magnetic resonance in the investigation of myopathy, Lancet, i, 725, 10.1016/S0140-6736(82)92635-6 Engel, 1963, Rapid examination of muscle tissue: An improved method for freshly-frozen biopsy sections, Neurology, 13, 919, 10.1212/WNL.13.11.919 Hands, 1986, Muscle metabolism in patients with peripheral vascular disease investigated by 31P nuclear magnetic resonance spectroscopy, Clin. Sci., 71, 283, 10.1042/cs0710283 Hayes, 1985, A mitochondrial encephalomyopathy. A combined 31P magnetic resonance and biochemical investigation, J. Neurol. Sci., 71, 105, 10.1016/0022-510X(85)90040-1 Hayes, 1986, A new metabolic myopathy: A malate-aspartate-shuttle defect, Biochem. Soc. Trans., 14, 1208, 10.1042/bst0141208 Hayes, 1986, A new metabolic myopathy: Impaired oxidation of NADH due to deficiency in the malate-aspartate shuttle, 561 Holloszy, 1969, Effect of exercise on α-glycerophosphate dehydrogenase activity in skeletal muscle, Arch. Biochem. Biophys., 130, 653, 10.1016/0003-9861(69)90083-6 LaNoue, 1974, Energy driven aspartate efflux from heart and liver mitochondria, J. Biol. Chem., 249, 7514, 10.1016/S0021-9258(19)81268-1 LaNoue, 1974, Evidence for electrogenic aspartate transport in rat liver mitochondria, Arch. Biochem. Biophys., 161, 544, 10.1016/0003-9861(74)90337-3 LaNoue, 1979, Metabolic transport in mitochondria, Annu. Rev. Biochem., 48, 871, 10.1146/annurev.bi.48.070179.004255 LaNoue, 1974, Electrogenic characteristics of the mitochondrial glutamate-aspartate antiporter, J. Biol. Chem., 249, 7522, 10.1016/S0021-9258(19)81269-3 Lowry, 1951, Protein measurements with the Folin phenol reagent, J. Biol. Chem., 193, 265, 10.1016/S0021-9258(19)52451-6 Makinen, 1968, Biochemical studies of skeletal muscle mitochondria. 1. Microanalysis of cytochrome content, oxidative and phosphorylative activities of mammalian skeletal muscle mitochondria, Arch. Biochem. Biophys., 126, 75, 10.1016/0003-9861(68)90561-4 Max, 1972, Simple procedure for rapid isolation of functionally intact mitochondria from human and rat skeletal muscle, Anal. Biochem., 46, 576, 10.1016/0003-2697(72)90328-4 Meijer, 1974, The metabolic significance of anion transport in mitochondria, Biochim. Biophys. Acta, 346, 213, 10.1016/0304-4173(74)90001-9 Morgan-Hughes, 1977, A mitochondrial myopathy characterised by a deficiency in reducible cytochrome b, Brain, 100, 617, 10.1093/brain/100.4.617 Palmieri, 1972, Kinetics and specificity of the oxoglutarate carrier in rat liver mitochondria, Eur. J. Biochem., 29, 408, 10.1111/j.1432-1033.1972.tb02003.x Pearse, 1972 Radda, 1982, 31P NMR examination of two patients with NADH-Co-Q reductase dificiency, Nature, 295, 608, 10.1038/295608a0 Radda, 1983, Clinical aspects of 31P NMR spectroscopy, Br. Med. Bull., 40, 155, 10.1093/oxfordjournals.bmb.a071962 Rigault, 1970, Respiration and oxidative phosphorylation by mitochondria of red and white skeletal muscle, Can. J. Biochem., 48, 27, 10.1139/o70-005 Robinson, 1970, Transport of reduced nicotinamide adenine dinucleotide to mitochondria of rat white adipose tissue, Biochem. J., 116, 229, 10.1042/bj1160229 Ross, 1981, Examination of a case of suspected McArdie's Syndrome by 31P NMR, New Engl. J. Med., 304, 1338, 10.1056/NEJM198105283042206 Scholte, 1981, Functional disorders of mitochondria in muscle diseases — Respiratory chain phosphorylation — the carnitine system Schotland, 1976, Neuromuscular disorder associated with a defect in mitochondrial energy supply, Arch. Neurol. (Chic.), 33, 475, 10.1001/archneur.1976.00500070017003 Sluese, 1972, Mechanism of the exchanges catalysed by the oxoglutarate translocator of rat heart mitochondria. Kinetics of the exchange reactions between 2-oxoglutarate, malate and malonate, Eur. J. Biochem., 25, 207, 10.1111/j.1432-1033.1972.tb01686.x Taylor, 1983, Bioenergetics of intact human muscle — A 31P nuclear magnetic resonance study, Mol. Biol. Med., 1, 77 Taylor, 1986, Energetics of human muscle: Exercise induced ATP depletion, Magnetic Res. Med., 3, 44, 10.1002/mrm.1910030107 Tischler, 1976, Mechanism of glutamate-aspartate translocation across the mitochondrial inner membrane, Arch. Biochem. Biophys., 173, 448, 10.1016/0003-9861(76)90282-4 Wong-Riley, 1979, Changes in the visual system on monocularly sutured or enucleated cats demonstrable with cytochrome oxidase histochemistry, Brain Res., 171, 11, 10.1016/0006-8993(79)90728-5