The X-ray crystal structures of human α-phosphomannomutase 1 reveal the structural basis of congenital disorder of glycosylation type 1a

Journal of Biological Chemistry

Volumn 281, Issue 21, 2006, Pages 14918-14926

  Silvaggi, Nicholas R ^a   Zhang, Chunchun ^b   Lu, Zhibing ^a   Dai, Jianying ^b   Dunaway Mariano, Debra ^b   Allen, Karen N ^a,c  

^a BOSTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF NEW MEXICO   (United States)

^c R 702 ^*  (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BIOLOGICAL MEMBRANES; CONFORMATIONS; CRYSTAL STRUCTURE; DISEASES; SUBSTRATES; X RAY ANALYSIS;

GENOTYPE-PHENOTYPE RELATIONSHIP; MUTATION SITES; SUBSTRATE BINDS;

ENZYMES;

ALPHA PHOSPHOMANNOMUTASE 1 ENZYME; ASPARTIC ACID; MAGNESIUM ION; MANNOSE PHOSPHATE; PHOSPHOGLUCOMUTASE; PHOSPHOMANNOMUTASE; UNCLASSIFIED DRUG;

ACID BASE BALANCE; ARTICLE; CATALYSIS; CONTROLLED STUDY; CRYSTAL STRUCTURE; ENZYME ACTIVE SITE; ENZYME CONFORMATION; ENZYME GLYCOSYLATION; ENZYME KINETICS; ENZYME STRUCTURE; ENZYME SUBSTRATE; ENZYME SUBSTRATE COMPLEX; NONHUMAN; PRIORITY JOURNAL; STEADY STATE; X RAY CRYSTALLOGRAPHY;

AMINO ACID SEQUENCE; ASPARTIC ACID; CARBOHYDRATE METABOLISM, INBORN ERRORS; CLONING, MOLECULAR; CRYSTALLOGRAPHY, X-RAY; HUMANS; HYDROLASES; MAGNESIUM; MODELS, CHEMICAL; MODELS, MOLECULAR; MOLECULAR CONFORMATION; MOLECULAR SEQUENCE DATA; PHOSPHOTRANSFERASES (PHOSPHOMUTASES); PROTEIN ISOFORMS;

EID: 33744955343     PISSN: 00219258     EISSN: 1083351X     Source Type: Journal    
DOI: 10.1074/jbc.M601505200     Document Type: Article

References (39)

1. Varki, A. (1993) Glycobiology 3, 97-130
2. Dwek, R. A. (1996) Chem. Rev. 96, 683-720
3. Woods, R. J., Edge, C. J., and Dwek, R. A. (1994) Nat. Struct. Biol. 1, 499-501
4. Rudd, P. M., Joao, H. C., Coghill, E., Fiten, P., Saunders, M. R., Opdenakker, G., and Dwek, R. A. (1994) Biochemistry 33, 17-22
5. Rudd, P. M., Fortune, F., Patel, T., Parekh, R. B., Dwek, R. A., and Lehner, T. (1994) Immunology 83, 99-106
6. Rademacher, T. W., Williams, P., and Dwek, R. A. (1994) Proc. Natl. Acad. Sci. U. S. A. 91, 6123-6127
7. Brooks, S. A., Leathem, A. J., and Dwek, M. V. (1994) Biochem. Soc. Trans. 22, 95S
8. Grunewald, S., Matthijs, G., and Jaeken, J. (2002) Pediatr. Res. 52, 618-624
9. Neumann, L. M., von Moers, A., Kunze, J., Blankenstein, O., and Marquardt, T. (2003) Eur. J. Pediatr 162, 710-713
10. Noelle, V., Knuepfer, M., Pulzer, F., Schuster, V., Siekmeyer, W., Matthijs, G., and Vogtmann, C. (2005) Eur. J. Pediatr 164, 223-226
11. Matthijs, G., Schollen, E., Pardon, E., Veiga-Da-Cunha, M., Jaeken, J., Cassiman, J. J., and Van Schaftingen, E. (1997) Nat. Genet. 16, 88-92
12. Matthijs, G., Schollen, E., Van Schaftingen, E., Cassiman, J. J., and Jaeken, J. (1998) Am. J. Hum. Genet. 62, 542-550
13. Van Schaftingen, E., and Jaeken, J. (1995) FEBS Lett. 377, 318-320
14. Pirard, M., Achouri, Y., Collet, J. F., Schollen, E., Matthijs, G., and Van Schaftingen, E. (1999) Biochem. J. 339, 201-207
15. Dai, J. B., Liu, Y., Ray, W. J., Jr., and Konno, M. (1992) J. Biol. Chem. 267, 6322-6337
16. Naught, L. E., and Tipton, P. A. (2001) Arch. Biochem. Biophys. 396, 111-118
17. Otwinowski, Z., and Minor, W. (1997) Methods Enzymol. 276, 307-326
18. Weeks, C. M., Blessing, R. H., Miller, R., Mungee, R., Potter, S. A., Rappleye, J., Smith, G. D., Xu, H., and Furey, W. (2002) Z. Kristallogr. 217, 686-693
19. Terwilliger, T. C. (1999) Acta Crystallogr. Sect. D Biol. Crystallogr. 55, 1863-1871
20. Emsley, P., and Cowtan, K. (2004) Acta Crystallogr. Sect. D Biol. Crystallogr. 60, 2126-2132
21. Murshudov, G. N., Vagin, A. A., and Dodson, E. J. (1997) Acta Crystallogr. Sect. D Biol. Crystallogr. 53, 240-255
22. Collaborative Computational Project, No. 4 (1994) Acta Crystallogr. Sect. D Biol. Crystallogr. 50, 760-763
23. Davis, I. W., Murray, L. W., Richardson, J. S., and Richardson, D. C. (2004) Nucleic Acids Res. 32, W615-W619
24. Allen, K. N., and Dunaway-Mariano, D. (2004) Trends Biochem. Sci. 29, 495-503
25. Echols, N., Milburn, D., and Gerstein, M. (2003) Nucleic Acids Res. 31, 478-482
26. Lu, Z., Dunaway-Mariano, D., and Allen, K. N. (2005) Biochemistry 44, 8684-8696
27. Lahiri, S. D., Zhang, G., Dunaway-Mariano, D., and Allen, K. N. (2002) Biochemistry 41, 8351-8359
28. Tremblay, L. W., Dunaway-Mariano, D., and Allen, K. N. (2006) Biochemistry 45, 1183-1193
29. Peisach, E., Selengut, J., Dunaway-Mariano, D., and Allen, K. N. (2004) Biochemistry 43, 12770-12779
30. Morais, M. C., Zhang, W., Baker, A. S., Zhang, G., Dunaway-Mariano, D., and Allen, K. N. (2000) Biochemistry 39, 10385-10396
31. Wang, W., Cho, H. S., Kim, R., Jancarik, J., Yokota, H., Nguyen, H. H., Grigoriev, I. V., Wemmer, D. E., and Kim, S. H. (2002) J. Mol. Biol. 319, 421-431
32. Zhang, G., Dai, J., Wang, L., Dunaway-Mariano, D., Tremblay, L. W., and Allen, K. N. (2005) Biochemistry 44, 9404-9416
33. Pirard, M., Matthijs, G., Heykants, L., Schollen, E., Grunewald, S., Jaeken, J., and van Schaftingen, E. (1999) FEBS Lett. 452, 319-322
34. Bjursell, C., Erlandson, A., Nordling, M., Nilsson, S., Wahlstrom, J., Stibler, H., Kristiansson, B., and Martinsson, T. (2000) Hum. Mutat. 16, 395-400
35. Matthijs, G., Schollen, E., Bjursell, C., Erlandson, A., Freeze, H., Imtiaz, F., Kjaergaard, S., Martinsson, T., Schwartz, M., Seta, N., Vuillaumier-Barrot, S., Westphal, V., and Winchester, B. (2000) Hum. Mutat. 16, 386-394
36. Pirard, M., Collet, J. F., Matthijs, G., and Van Schaftingen, E. (1997) FEBS Lett. 411, 251-254
37. Alton, G., Hasilik, M., Niehues, R., Panneerselvam, K., Etchison, J. R., Fana, F., and Freeze, H. H. (1998) Glycobiology 8, 285-295
38. Kraulis, P. (1991) J. Appl. Crystallogr. 24, 946-950
39. Potterton, E., McNicholas, S., Krissinel, E., Cowtan, K., and Noble, M. (2002) Acta Crystallogr. Sect. D Biol. Crystallogr. 58, 1955-1957