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Abnormalities in succinylpurines in fumarase deficiency: Possible role in pathogenesis of CNS impairment

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Journal of Inherited Metabolic Disease

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REFERENCES

  • Barnes LB, Bishop SH (1975) Adenylosuccinate lyase from human erythrocytes. Int J Biochem 6: 497–503.

    Google Scholar 

  • Bourgeron T, Chretien D, Poggi-Bach J, et al (1994) Mutation of the fumarase gene in two siblings with progressive encephalopathy and fumarase deficiency. J Clin Invest 93: 2514–2518.

    Google Scholar 

  • Bridger WA, Cohen LH (1968) The kinetics of adenylosuccinate lyase. Biol Chem 243: 644–650.

    Google Scholar 

  • Brox LW (1973) The cleavage of adenylosuccinate and 5–amino-4–imidazole-N-succino-carboxamide ribonucleotide by an adenylosuccinate lyase from Ehrlich ascites tumor cells. Can J Biochem 51: 1072–1076.

    Google Scholar 

  • Coughlin EM, Christensen E, Kunz PL, et al (1998) Molecular analysis and prenatal diagnosis of human fumarase deficiency. Mol Genet Metab 63: 254–262.

    Google Scholar 

  • Elpeleg ON, Amir A and Christensen E (1992) Variability of clinical presentation in fumarate hydratase deficiency. J Pediatr 121: 752–754.

    Google Scholar 

  • Hill RL, Bradshaw RA (1969) Fumarase. Methods Enzymol 13: 91–99.

    Google Scholar 

  • Jaeken J, Wadman SK, Duran M, et al (1988) Adenylosuccinase deficiency: an inborn error of purine nucleotide synthesis. Eur J Pediatr 148: 126–131.

    Google Scholar 

  • Krijt J, Kmoch S, Harmannová H, Havlíček V, Šebesta I (1999) Identification and determination of succinyladenosine in human cerebrospinal fluid. J Chromatogr B 726: 53–58.

    Google Scholar 

  • Pette D (1966) Regulation of Metabolic Processes in Mitochondria. Amsterdam: Elsevier.

    Google Scholar 

  • Rose IA (1997) Restructuring the active site of fumarase for the fumarate to malate reaction. Biochemistry 36: 12346–12354.

    Google Scholar 

  • Rustin P, Bourgeron T, Parfait B, Chretien D, Munnich A, Rotig A (1997) Inborn errors of the Krebs cycle: a group of unusual mitochondrial diseases in human. Biochim Biophys Acta 1361: 185–197.

    Google Scholar 

  • Srere PA, Sumegi B, Sherry AD (1987) Organizational aspects of the citric acid cycle. Biochem Soc Symp 54: 173–178.

    Google Scholar 

  • Stone RL, Zalkin H, Dixon JE (1993) Expression, purification and kinetic characterization of recombinant human adenylosuccinate lyase. J Biol Chem 168: 19710–19716.

    Google Scholar 

  • Stone TW, Roberts LA, Morris BJ, (1998) Succinylpurines induce neuronal damage in the rat brain. In: Griesmachen A, Chiba P, Müller M, editors. Purine and Pyrimidine Metabolism in Man IX. Plenum Press, New York, 185–189.

    Google Scholar 

  • Wharton DC, Tzagolo. A (1967) Cytochrome oxidase from beef heart mitochondria. Methods Enzymol 10: 245–253.

    Google Scholar 

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Authors and Affiliations

  1. Department of Paediatrics, Faculty of Medicine, Charles University, Prague, Czech Republic

    J. Zeman, L. Stratilová, H. Hansíková & L. Wenchich

  2. Institute for Inherited Metabolic Disorders, Faculty of Medicine, Charles University, Prague, Czech Republic

    J. Krijt, S. Kmoch & P. Chrastina

  3. Institute of Physiology, Academy of Sciences of the Czech Republic, Prague, Czech Republic

    J. Houštěk

Authors
  1. J. Zeman
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  2. J. Krijt
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  3. L. Stratilová
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  4. H. Hansíková
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  5. L. Wenchich
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  6. S. Kmoch
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  7. P. Chrastina
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  8. J. Houštěk
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Zeman, J., Krijt, J., Stratilová, L. et al. Abnormalities in succinylpurines in fumarase deficiency: Possible role in pathogenesis of CNS impairment. J Inherit Metab Dis 23, 371–374 (2000). https://doi.org/10.1023/A:1005639516342

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  • DOI: https://doi.org/10.1023/A:1005639516342

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