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Adenylosuccinate Lyase Deficiency: From the Clinics to Molecular Biology

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Part of the book series: Advances in Experimental Medicine and Biology ((AEMB,volume 486))

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References

  1. Jaeken, J., and Van den Berghe, G., 1984, An infantile autistic syndrome characterised by the presence of succinylpurines in body fluids. Lancet, 2: 1058–1061.

    CAS  PubMed  Google Scholar 

  2. Van den Berghe, G., Vincent, M.F., and Jaeken, J., 1997, Inborn errors of the purine nucleotide cycle: adenylosuccinase deficiency. J. Inher. Metab. Dis. 20: 193–202.

    PubMed  Google Scholar 

  3. Van den Berghe, G., and Jaeken J., 2000, Adenylosuccinate lyase deficiency. In: Scriver C.R., Beaudet, A.L., Sly, W.S., Valle, D. (eds), The Metabolic and Molecular Bases of Inherited Disease, 8th edition. McGraw-Hill, New York, In press.

    Google Scholar 

  4. Jaeken, J., Wadman, S.K., Duran, M., van Sprang, F.J., Beemer, F.A., Holl, R.A., Theunissen, P.M., De Cock, P., Van den Bergh, F., Vincent, M.F., and Van den Berghe, G., 1988, Adenylosuccinase deficiency: an inborn error of purine nucleotide synthesis. Eur. J. Pediatr. 148: 126–131

    CAS  PubMed  Google Scholar 

  5. Van den Bergh, F., Vincent, M.F., Jaeken, J., and Van den Berghe, G., 1993, Residual adenylosuccinase activities in fibroblasts of adenylosuccinase-deficient children: parallel deficiency with adenylosuccinate and succinyl-AICAR in profoundly retarded patients and non-parallel deficiency in a mildly retarded girl. J. Inherit. Metab. Dis. 16: 415–424.

    PubMed  Google Scholar 

  6. Marie, S., Cuppens, H., Heuterspreute, M., Jaspers, M., Zambrano Tola, E., Gu, X.X., Legius, E., Vincent, M.F., Jaeken, J., Cassiman, J.J., and Van den Berghe, G., 1999, Mutation analysis in adenylosuccinate lyase deficiency: eight novel mutations in the re-evaluated full ADSL coding sequence. Human Mutation, 13: 197–202.

    Article  CAS  PubMed  Google Scholar 

  7. Stone, R.L., Aimi, J., Barshop, B A., Jaeken, J., Van den Berghe, G., Zalkin, H., and Dixon, J.E., 1992, A mutation in adenylosuccinate lyase associated with mental retardation and autistic features. Nature Genet. 1: 59–63.

    CAS  PubMed  Google Scholar 

  8. Schultz, V., and Lowenstein, J.M., 1976, Purine nucleotide cycle. Evidence for the occurrence of the cycle in brain. J. Biol. Chem. 251: 485–492.

    CAS  PubMed  Google Scholar 

  9. LaVallie, E.R., DiBlasio, E.A., Kovacic, C., Grant, K.L., Schendel, P.F., and McCoy, J.M., 1993, A thioredoxin gene fusion expression system that circumvents inclusion body formation in E. coli cytoplasm. Biotechnology, 11: 187–193.

    CAS  PubMed  Google Scholar 

  10. Turner, M.A., Simpson, A., McInnes, R.R., and Howell, P.L., 1997, Human argininosuccinate lyase: a structural basis for intragenic complementation. Proc. Natl. Acad. Sci. U.S.A. 94: 9063–9068.

    Article  CAS  PubMed  Google Scholar 

  11. Simpson, A., Bateman, O., Driessen, H., Lindley, P., Moss, D., Mylvaganam, S., Narebor, E., and Slingsby, C., 1994, The structure of avian eye lens delta-crystallin reveals a new fold for a superfamily of oligomeric enzymes. Nature Struct. Biol. 1: 724–734.

    Article  CAS  PubMed  Google Scholar 

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© 2002 Kluwer Academic Publishers

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Marie, S., Race, V., Vincent, M.F., Van Den Berghe, G. (2002). Adenylosuccinate Lyase Deficiency: From the Clinics to Molecular Biology. In: Zoref-Shani, E., Sperling, O. (eds) Purine and Pyrimidine Metabolism in Man X. Advances in Experimental Medicine and Biology, vol 486. Springer, Boston, MA. https://doi.org/10.1007/0-306-46843-3_15

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  • DOI: https://doi.org/10.1007/0-306-46843-3_15

  • Publisher Name: Springer, Boston, MA

  • Print ISBN: 978-0-306-46515-4

  • Online ISBN: 978-0-306-46843-8

  • eBook Packages: Springer Book Archive

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