Structural insights into pathogenic mutations in heme-dependent cystathionine-β-synthase

Journal of Inorganic Biochemistry

Volumn 100, Issue 12, 2006, Pages 1988-1995

  Yamanishi, Mamoru ^a   Kabil, Omer ^a   Sen, Suvajit ^a   Banerjee, Ruma ^a  

^a UNIVERSITY OF NEBRASKA LINCOLN   (United States)

Author keywords

Cystathionine synthase; Hemeprotein; Homocysteine; Mutations

Indexed keywords

CYSTATHIONINE; CYSTATHIONINE BETA SYNTHASE; DEUTERIUM; HEME DERIVATIVE; HEMOPROTEIN; HOMOCYSTEINE; HYDROGEN; PHOSPHATE; SERINE;

CATALYSIS; CHEMICAL STRUCTURE; CRYSTALLOGRAPHY; ENZYME STRUCTURE; GENE MUTATION; GENETIC DISORDER; HYPERHOMOCYSTEINEMIA; MASS SPECTROMETRY; POLYMERIZATION; PROTEIN DOMAIN; REVIEW;

CATALYSIS; CYSTATHIONINE BETA-SYNTHASE; HEME; HUMANS; MODELS, MOLECULAR; MUTATION; PROTEIN CONFORMATION;

EID: 33751031794     PISSN: 01620134     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jinorgbio.2006.08.020     Document Type: Review

References (45)

1. Kery V., Bukovska G., and Kraus J.P. J. Biol. Chem. 269 (1994) 25283-25288
2. Refsum H., Ueland P.M., Nygard O., and Vollset S.E. Annu. Rev. Medicine 49 (1998) 31-62
3. Mills J.L., McPartlin J.M., Kirke P.N., Lee Y.J., Conle M.R., and Weir D.G. Lancet 345 (1995) 149-151
4. Clarke R., Smith A.D., Jobst K.A., Refsum H., Sutton L., and Ueland P.M. Arch. Neruol. 55 (1998) 1449-1455
5. McCully K.S. Am. J. Pathol. 56 (1969) 111-128
6. Kraus J.P., Janosik M., Kozich V., Mandell R., Shih V., Sperandeo M.P., Sebastio G., de Franchis R., Andria G., Kluijtmans L.A., Blom H., Boers G.H., Gordon R.B., Kamoun P., Tsai M.Y., Kruger W.D., Koch H.G., Ohura T., and Gaustadnes M. Hum. Mutat. 13 (1999) 362-375
7. Kabil O., and Banerjee R. J. Biol. Chem. 274 (1999) 31256-31260
8. Janosik M., Kery V., Gaustadnes M., Maclean K.N., and Kraus J.P. Biochemistry 40 (2001) 10625-10633
9. Janosik M., Oliveriusova J., Janosikova B., Sokolova J., Kraus E., Kraus J.P., and Kozich V. Am. J. Hum. Genet. 68 (2001) 1506-1513
10. Evande R., Boers G.H.J., Blom H.J., and Banerjee R. Biochemistry 41 (2002) 11832-11837
11. Ojha S., Wu J., LoBrutto R., and Banerjee R. Biochemistry 41 (2002) 4649-4654
12. Katsushima F., Oliveriusova J., Sakamoto O., Ohura T., Kondo Y., Iinuma K., Kraus E., Stouracova R., and Kraus J.P. Mol. Genet. Metab. 87 (2006) 323-328
13. Banerjee R., and Zou C.G. Arch. Biochem. Biophys. 433 (2005) 144-156
14. Miles E.W., and Kraus J.P. J. Biol. Chem. 279 (2004) 29871-29874
15. Banerjee R., Evande R., Kabil O., Ojha S., and Taoka S. Biochim. Biophys. Acta 1647 (2003) 30-35
16. Jhee K.H., McPhie P., and Miles E.W. J. Biol. Chem. 275 (2000) 11541-11544
17. Kery V., Poneleit L., Meyer J.D., Manning M.C., and Kraus J.P. Biochemistry 38 (1999) 2710-2724
18. Bateman A. Trends Biochem. Sci. 22 (1997) 12-13
19. Sen S., Yu J., Yamanishi M., Schellhorn D., and Banerjee R. Biochemistry 44 (2005) 14210-14216
20. Scott J.W., Hawley S.A., Green K.A., Anis M., Stewart G., Scullion G.A., Norman D.G., and Hardie D.G. J. Clin. Invest. 113 (2004) 274-284
21. Shan X., and Kruger W.D. Nat. Genet. 19 (1998) 91-93
22. Kery V., Poneleit L., and Kraus J. Arch. Biochem. Biophys. 355 (1998) 222-232
23. Taoka S., Widjaja L., and Banerjee R. Biochemistry 38 (1999) 13155-13161
24. Meier M., Janosik M., Kery V., Kraus J.P., and Burkhard P. EMBO J. 20 (2001) 3910-3916
25. Taoka S., Lepore B.W., Kabil O., Ojha S., Ringe D., and Banerjee R. Biochemistry 41 (2002) 10454-10461
26. Bruno S., Schiaretti F., Burkhard P., Kraus J.P., Janosik M., and Mozzarelli A. J. Biol. Chem. 276 (2001) 16-19
27. Evande R., Ojha S., and Banerjee R. Arch. Biochem. Biophys. 427 (2004) 188-196
28. Taoka S., Ohja S., Shan X., Kruger W.D., and Banerjee R. J. Biol. Chem. 273 (1998) 25179-25184
29. Mosharov E., Cranford M.R., and Banerjee R. Biochemistry 39 (2000) 13005-13011
30. Taoka S., Green E.L., Loehr T.M., and Banerjee R. J. Inorg. Biochemistry 87 (2001) 253-259
31. Taoka S., and Banerjee R. J. Inorg. Biochemistry 87 (2001) 245-251
32. Puranik M., Weeks C.L., Lahaye D., Kabil O., Taoka S., Nielsen S.B., Groves J.T., Banerjee R., and Spiro T.G. J. Biol. Chem. 281 (2006) 13433-13438
33. Meier M., Oliveriusova J., Kraus J.P., and Burkhard P. Biochim. Biophys. Acta 1647 (2003) 206-213
34. Shan X., Dunbrack Jr. R.L., Christopher S.A., and Kruger W.D. Hum. Mol. Genet. 10 (2001) 635-643
35. Maclean K.N., Gaustadnes M., Oliveriusova J., Janosik M., Kraus E., Kozich V., Kery V., Skovby F., Rudiger N., Ingerslev J., Stabler S.P., Allen R.H., and Kraus J.P. Hum. Mutat. 19 (2002) 641-655
36. Gaustadnes M., Wilcken B., Oliveriusova J., McGill J., Fletcher J., Kraus J.P., and Wilcken D.E. Hum. Mutat. 20 (2002) 117-126
37. Kim C.E., Gallagher P.M., Guttormsen A.B., Refsum H., Ueland P.M., Ose L., Folling I., Whitehead A.S., Tsai M.Y., and Kruger W.D. Hum. Mol. Genet. 6 (1997) 2213-2221
38. Gallagher P.M., Naughten E., Hanson N.Q., Schwichtenberg K., Bignell M., Yuan M., Ward P., Yap S., Whitehead A.S., and Tsai M.Y. Mol. Genet. Metab. 65 (1998) 298-302
39. Kruger W.D., Wang L., Jhee K.H., Singh R.H., and Elsas II L.J. Hum. Mutat. 22 (2003) 434-441
40. Kluitjmans L.A.J., Boers G.H.J., Stevens E.M.B., Renie W.O., Kraus J.P., Trijbels F.J.M., Heuvel L.P.W.J.v.d., and Blom H.J. J. Clin. Invest. 98 (1996) 285-289
41. Prudova A., Martinov M.V., Vitvitsky V., Ataullakhanov F., and Banerjee R. Biochim. Biophys. Acta 1741 (2005) 331-338
42. Baker N.A., Sept D., Joseph S., Holst M.J., and McCammon J.A. Proc. Natl. Acad. Sci. USA 98 (2001) 10037-10041
43. Kyte J., and Doolittle R.F. J. Mol. Biol. 157 (1982) 105-132
44. Kraulis P.J. J. Appl. Cryst. 24 (1991) 946-950
45. Merritt E.A., and Murphy M.E. Acta Crystallogr. D Biol. Crystallogr. 50 (1994) 869-873