Human porphobilinogen deaminase mutations in the investigation of the mechanism of dipyrromethane cofactor assembly and tetrapyrrole formation

Biochemical Society Transactions

Volumn 31, Issue 3, 2003, Pages 731-735

  Shoolingin Jordan, P M ^a   Al Dbass, A ^a   McNeill, L A ^a   Sarwar, M ^a   Butler, D ^a  

^a UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

Author keywords

Dipyrromethane cofactor assembly; Enzyme intermediate complex; Holo deaminase formation; Human porphobilinogen deaminase; Tetrapyrolle formation

Indexed keywords

ARGININE; DIPYRROMETHANE; METHANE; PORPHOBILINOGEN DEAMINASE; PYRROLE DERIVATIVE; UNCLASSIFIED DRUG; UROPORPHYRINOGEN;

ACUTE INTERMITTENT PORPHYRIA; CATALYSIS; CONFERENCE PAPER; CONTROLLED STUDY; COVALENT BOND; ENZYME STABILITY; ENZYME SUBSTRATE; GENE MUTATION; HUMAN; NONHUMAN; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN ASSEMBLY; PROTEIN FUNCTION; PROTEIN PHOSPHORYLATION; REACTION ANALYSIS;

AMINO ACID SUBSTITUTION; CLONING, MOLECULAR; COENZYMES; ESCHERICHIA COLI; HUMANS; HYDROXYMETHYLBILANE SYNTHASE; MUTAGENESIS, SITE-DIRECTED; MUTATION; PORPHOBILINOGEN;

ESCHERICHIA COLI;

EID: 0038540516     PISSN: 03005127     EISSN: None     Source Type: Journal    
DOI: 10.1042/BST0310731     Document Type: Conference Paper

References (16)

1. Shoolingin-Jordan, P.M. (2003) in The Porphyrin Handbook, vol. 12 (Kadish, K.M., Smith K.M. and Guilard, R., eds.), pp. 33-74, Elsevier, Amsterdam
2. Louie, G.V., Brownlie, P.D., Lambert, R., Cooper, J.B., Blundell, T.L., Wood, S.P., Malashkevich, V.N., Hädener, A., Warren, M.J. and Shoolingin-Jordan, P.M. (1996) Proteins Struct. Funct. Genet. 25, 48-78
3. Jordan, P.M. and Warren, M.J. (1987) FEBS Lett. 225, 87-92
4. Shoolingin-Jordan, P.M., Warren, M.J. and Awan, S.J. (1996) Biochem. J. 316, 373-376
5. Anderson, K.E., Sassa, S., Bishop, D.F. and Desnick, R.J. (2001) in Structural and Medical Basis of Inherited Disease, vol. 2 (Scriver, C.R., Beaudet, A.L., Valle, D. and Sly, W.S., eds), pp. 2991-3062, Academic Press, London
6. Wood, S.P., Lambert, R. and Jordan, P.M. (1995) Mol. Med. Today 1, 232-239
7. Lee, J.S. and Anvret, M. (1991) Proc. Natl. Acad. Sci. U.S.A. 88, 10912-10915
8. Cappellini, M., Martinez di Montemuros, F., Di Pierro, E. and Fiorelli, G. (2002) Blood Cells Mol Dis. 28, 5-12
9. Delfau, M.H. (1991) Am. J. Hum. Genet. 49, 421-428
10. Delfau, M.H., Picat, C. and de Rooij, F.W.M. (1990) J. Clin. Invest. 86, 1511-1516
11. Llewelyn, D.H., Whatley, S. and Elder, G.H. (1993) Hum. Mol. Genet. 2, 1315-1316
12. Floderus, Y., Shoolingin-Jordan, P.M. and Harper, P. (2002) Clin. Genet. 62, 288-297
13. Tabor, S. and Richardson, C.C. (1985) Proc. Natl. Acad. Sci. U.S.A. 82, 1074-1078
14. Warren, M.J. and Jordan, P.M. (1988) Biochemistry 27, 9020-9030
15. Woodcock, S.C. and Jordan, P.M. (1994) Biochemistry 33, 2688-2695
16. Jordan, P.M. and Woodcock, S.C. (1991) Biochem. J. 280, 445-449