Succinate dehydrogenase and human diseases: new insights into a well-known enzyme

Tzagoloff A . Mitochondria New York, Plenum Press 1982 pp 1–342

Ackrell BAC, Johnson MK, Gunsalus RP, Cecchini G . Structure and function of succinate dehydrogenase and fumarate reductase in Muller F (ed) Chemistry and Biochemistry of Flavoproteins Boca Raton, FL: CRC Press 1992 vol III: pp 229–297

Rustin P, Rötig A . Inborn errors of complex II–Unusual human mitochondrial diseases Biochim Biophys Acta 2001 1553: 117–122

Bourgeron T, Rustin P, Chretien D et al. Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency Nature Genet 1995 11: 144–149

Parfait B, Chretien D, Rötig A, Marsac C, Munnich A, Rustin P . Compound heterozygous mutations in the flavoprotein gene of the respiratory chain complex II in a patient with Leigh syndrome Hum Genet 2000 106: 236–243

Baysal BE, Ferrell RE, Willett-Brozick JE et al. Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma Science 2000 287: 848–851

Niemann S, Muller U . Mutations in SDHC cause autosomal dominant paraganglioma, type 3 Nature Genet 2000 26: 268–270

Astuti D, Latif F, Dallol A et al. Gene mutations in the succinate dehydrogenase subunit sdhb cause susceptibility to familial pheochromocytoma and to familial paraganglioma Am J Hum Genet 2001 69: 49–54

Baysal BE, Rubinstein WS, Taschner PE . Phenotypic dichotomy in mitochondrial complex II genetic disorders J Mol Med 2001 79: 495–503

Gutman M . Modulation of mitochondrial succinate dehydrogenase activity, mechanism and function Mol Cell Biochem 1978 20: 41–60

Geromel V, Kadhom N, Ceballos-Picot I et al. Human cultured skin fibroblasts survive profound inherited ubiquinone depletion Free Rad Res 2001 35: 11–21

Geromel V, Parfait B, von Kleist-Retzow JC et al. The consequences of a mild respiratory chain deficiency on substrate competitive oxidation in human mitochondria Biochem Biophys Res Commun 1997 236: 643–646

Rustin P, Lance C . Succinate-driven reverse electron transport in the respiratory chain of plant mitochondria. The effects of rotenone and adenylates in relation to malate and oxaloacetate metabolism Biochem J 1991 274: 249–255

Eaton S, Turnbull DM, Bartlett K . Redox control of beta-oxidation in rat liver mitochondria Eur J Biochem 1994 220: 671–681

Rustin P, Parfait B, Chretien D et al. Fluxes of nicotinamide adenine dinucleotides through mitochondrial membranes in human cultured cells J Biol Chem 1996 271: 14785–14790

Ernster L, Dallner G . Biochemical, physiological and medical aspects of ubiquinone function Biochim Biophys Acta 1995 1271: 195–204

Raha S, Robinson BH . Mitochondria, oxygen free radicals, disease and ageing Trends Biochem Sci 2000 25: 502–508

Munnich A, Rustin P . Clinical spectrum and diagnosis of mitochondrial disorders Am J Med Genet 2001 106: 4–17

Birch-Machin MA, Taylor RW, Cochran B, Ackrell BA, Turnbull DM . Late-onset optic atrophy, ataxia, and myopathy associated with a mutation of a complex II gene Ann Neurol 2000 48: 330–335

Gimenez-Roqueplo AP, Favier J, Rustin P et al. The R22X mutation of the SDHD gene hereditary paraganglioma suppresses enzymatic activity of complex II in mitochondrial respiratory chain and induces activation of hypoxia pathway Am J Hum Genet 2001 69: 1186–1197

Ishii N, Fujii M, Hartman PS et al. A mutation in succinate dehydrogenase cytochrome b causes oxidative stress and ageing in nematodes Nature 1998 394: 694–697