Biochemical characterization of a variant human medium-chain acyl-CoA dehydrogenase with a disease-associated mutation localized in the active site

Biochemical Journal

Volumn 337, Issue 2, 1999, Pages 225-230

  Küchler, Burkhard ^a   Abdel Ghany, Abdel Ghany ^a   Bross, Peter ^b   Nandy, Andreas ^a   Rasched, Ihab ^a   Ghisla, Sandro ^a  

^a UNIVERSITY OF KONSTANZ   (Germany)

^b AARHUS UNIVERSITY HOSPITAL   (Denmark)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; ENZYME VARIANT; FLAVINE ADENINE NUCLEOTIDE; FLAVOPROTEIN; MEDIUM CHAIN ACYL COENZYME A DEHYDROGENASE; MUTANT PROTEIN; QUERCETIN; RECOMBINANT PROTEIN; SEMIQUINONE; THREONINE;

AMINO ACID SUBSTITUTION; ARTICLE; CONTROLLED STUDY; ENZYME ACTIVE SITE; ENZYME ACTIVITY; ENZYME DEFICIENCY; ENZYME STABILITY; HYDROGEN BOND; NONHUMAN; PRIORITY JOURNAL; REDUCTION; THERMOSTABILITY;

ACYL-COA DEHYDROGENASE; ACYL-COA DEHYDROGENASES; CATALYTIC DOMAIN; ENZYME STABILITY; HEAT; HUMANS; HYDROGEN-ION CONCENTRATION; LIPID METABOLISM, INBORN ERRORS; MITOCHONDRIA; MODELS, MOLECULAR; MUTATION; RECOMBINANT PROTEINS; SUBSTRATE SPECIFICITY; VARIATION (GENETICS);

EID: 2442736277     PISSN: 02646021     EISSN: None     Source Type: Journal    
DOI: 10.1042/0264-6021:3370225     Document Type: Article

References (43)

1. Nandy, A., Küchler, B. and Ghisla, S. (1996) Biochem. Soc. Trans. 24, 105-110
2. Nandy, A., Kieweg, V., Kräutle, F.-G., Vock, P., Küchler, B., Bross, P., Kim, J.-J. P., Rasched, I. and Ghisla, S. (1996) Biochemistry 35, 12402-12411
3. Tanaka, K., Yokota, I., Coates, P. M., Strauss, A. W., Kelly, D. P., Zhang, Z., Gregersen N., Andresen, B. S., Matsubara, Y., Curtis, D. et al. (1992) Hum. Mutat. 1, 271-279
4. Andresen, B. S., Bross, P., Knudsen, I., Winter, V., Kolvraa, S., Bolund, L. and Gregersen, N. (1994) J. Inherit. Metab. Dis. 17, 275-278
5. Roe, C. R. and Coates, P. M. (1995) in The Metabolic and Molecular Bases of Inherent Disease, 7th edn., vol. 1 (Scriver, C. R., Beaudet, A. L., Sly, W. S. and Valle, D., eds.), pp. 1501-1533, McGraw-Hill, New York
6. Howat, A. J., Bennett, M. J., Variend, S., Shaw, L. and Engel, P. C. (1985) Br. Med. J. (Clin. Res. Ed.) 290, 1771-1773
7. Andresen, B. S., Bross, P., Udvari, S., Kirk, J., Gray, G., Kmoch, S., Chamoles, N., Knudsen, I., Winter, V., Wilcken, B. et al. (1997) Hum. Mol. Genet. 6, 695-707
8. Iafolla, A. K., Thompson, R. J. and Roe, C. R. (1994) J. Pediatr. 124, 409-415
9. Wilcken, B., Hammond, J. and Silink, M. (1994) Arch. Dis. Child. 70, 410-412
10. Gregersen, N., Winter, V., Lyonnet, S., Saudubray, J. M., Wendel, U., Jensen, T. G., Andresen, B. S., Kolvraa, S., Lehnert, W., Bolund, L. et al. (1994) J. Inherit. Metab. Dis. 17, 169-184
11. Duran, M., Hofkamp, M., Rhead, W. J., Saudubray, J.-M. and Wadman, S. K. (1986) J. Inherit. Metab. Dis. 78, 1052-1057
12. Andresen, B. S. Jensen, T. G., Bross, P., Knudsen, I., Winter, V., Kolvraa, S., Bolund, L., Ding, J. H., Chen, Y. T., Van, H. J. et al. (1994) Am. J. Hum. Genet. 54, 975-988
13. Kim, J. J. P., Wang, M. and Paschke, R. (1993) Proc. Natl. Acad. Sci U.S.A. 90, 7523-7527
14. Kieweg, V., Kräutle, F. G., Engst, S., Nandy, A., Vock, P., Ghany, A. G. A., Bross, P., Rasched, I., Strauss, A. W. and Ghisla, S. (1997) Eur. J. Biochem. 246, 548-556
15. Bross, P., Jensen, T. G., Andresen, B. S., Kjeldsen, M., Nandy, A., Kolvraa, S., Ghisla, S., Rasched, I., Bolund, L. and Gregersen, N. (1994) Biochem. Med. Metab. Biol. 52, 36-44
16. Coates, P. M., Indo, Y., Young, D., Hale, D. E. and Tanaka, K. (1992) Pediatr. Res. 31, 34-38
17. Inagaki, T., Ohishi, N., Bachmann, C., Ghisla, S., Tsukagoshi, N., Udaka, S. and Yagi, K. (1990) J. Clin. Biochem. Nutr. 8, 269-278
18. Ikeda, Y., Hale, D. E., Keese, S. M., Coates, P. M. and Tanaka, K. (1986) Pediat. Res. 20, 843-847
19. Bross, P., Jespersen, C., Jensen, T. G., Andresen, B. S., Kristensen, M. J., Winter, V., Nandy, A., Kräutle, F., Ghisla, S., Bolund, L. et al. (1995) J. Biol. Chem. 270, 10284-10290
20. Brackett, J. C., Sims, H. F., Steiner, R. D., Nunge, M., Zimmerman, E. M., deMartinville, B., Rinaldo, P., Slaugh, R. and Strauss, A. W. (1994) J. Clin. Invest. 94, 1477-1483
21. Morris, A. A., Taylor, R, W., Lightowlers, R. N., Aynsley, G. A., Bartlett, K. and Turnbull, D. M. (1995) Hum. Mol. Genet. 4, 747-749
22. Andresen, B. S., Bross, P., Jensen, T. G., Winter, V., Knudsen, I., Kølvraa, S., Jensen, U. B., Bolund, L., Duran, M., Kim, J. J. et al. (1993) Am. J. Hum. Genet. 53, 730-739
23. Andresen, B. S., Jensen, T. G., Bross, P., Knudsen, I., Winter, V., Kølvraa, S., Bolund L., Ding, J. H., Chen, Y. T., Vanhove, J. L. K. et al. (1994) Am. J. Hum. Genet. 54, 975-988
24. Jensen, T. G., Bross, P., Andresen, B. S., Lund, T. B., Kristensen, T. J., Jensen, U. B., Winther, V., Kolvraa, S., Gregersen, N. and Bolund, L. (1995) Hum. Mutat. 6, 226-231
25. Reinsch, J., Katz, A., Wean, J., Aprahamian, G. and McFarland, J. T. (1980) J. Biol. Chem. 255, 9093-9097
26. Ghisla, S. (1984) in Flavins and Flavoproteins, Proceedings of the 8th Int. Symposium (Bray, R., Engel, P. C. and Mayhew, S. G., eds.), pp. 385-401, DeGruyter, Berlin
27. Pohl, B., Raichle, T. and Ghisla, S. (1986) Eur. J. Biochem. 160, 109-115
28. Schopfer, L. M., Massey, V., Ghisla, S. and Thorpe, C. (1988) Biochemistry 27, 6599-6611
29. Ghisla, S. and Massey, V. (1989) Eur. J. Biochem. 181, 1-17
30. Ghisla, S., Engst, S., Vock, P., Kieweg, V., Bross, P., Nandy, A., Rasched, I. and Strauss, A. W. (1994) Prog. Clin. Biol. Res: New Dev. Fatty Acid Oxid 375, 283-292
31. Bernert, J. T. and Sprecher, H. (1977) J. Biol. Chem. 252, 6736-6744
32. Kawaguchi, A., Yoshimura, T. and Okuda, S. (1981) J. Biochem. 89, 337-339
33. Decker, K. (1959) in Die aktivierte Essigsäure (Pummerer, R., ed.), p. 85, F. Enke, Stuttgart
34. Raichle, T. (1981) Ph.D Thesis, University of Konstanz
35. Langkau, B. (1993) Ph.D Thesis, University of Konstanz
36. Lehman, T. C., Hale, D. E., Bhala, A. and Thorpe, C. (1990) Anal. Biochem. 186, 280-284
37. Frerman, F. E. and Goodman, S. I. (1985) Biochem. Med. 33, 38-44
38. Salazar, D., Zhang, L. and Frerman, F. E. (1997) in Flavins and Flavoproteins 1996 (Stevenson, K. J., Massey, V. and Williams, Jr., C. H., eds.), pp. 93-96, University of Calgary Press, Calgary
39. Whitby, L. G. (1953) Biochem. J. 54, 437-442
40. Hanahan, D., Jessee, J. and Bloom, F. R. (1991) in Bacterial Genetic Systems, vol. 204 (Miller, J. H., ed.), pp. 63-113, Academic Press, Inc., San Diego
41. Müller, F. (1991) in Chemistry and Biochemistry of Flavoenzymes, vol. 1 (Müller, F., ed.), pp. 1-71, CRC Press, Boca Raton, FL
42. Thorpe, C. and Massey, V. (1983) Biochemistry 22, 2972-2978
43. Ghisla, S., Braunwarth, A. and Vock, P. (1997) in Flavins and Flavoproteins 1996 (Stevenson, K. J., Massey, V. and Williams, Jr., C. H., eds.), pp. 629-632, University of Calgary Press, Calgary