Molecular basis of reduced glucosylceramidase activity in the most common Gaucher disease mutant, N370S

Journal of Biological Chemistry

Volumn 285, Issue 53, 2010, Pages 42105-42114

  Offman, Marc N ^a   Krol, Marcin ^b   Silman, Israel ^a   Sussman, Joel L ^a   Futerman, Anthony H ^a  

^a WEIZMANN INSTITUTE OF SCIENCE   (Israel)

^b JAGIELLONIAN UNIVERSITY MEDICAL COLLEGE   (Poland)

Author keywords

[No Author keywords available]

Indexed keywords

ACTIVE SITE; DEOXYNOJIRIMYCIN; DRUG DESIGN; ENZYME COMPLEXES; FLEXIBLE BEHAVIORS; GAUCHER DISEASE; HYDROLASES; MOLECULAR BASIS; MUTANT ENZYMES; NEW APPROACHES; STRUCTURAL FEATURE; STRUCTURAL LOOPS; VARIOUS PH; WILD TYPES; X-RAY STRUCTURE;

ENZYME INHIBITION; ENZYMES; MOLECULAR DYNAMICS; PH EFFECTS; STRUCTURAL ANALYSIS;

DISEASE CONTROL;

CHAPERONE; GLUCOSYLCERAMIDASE; MIGLUSTAT;

ARTICLE; ENZYME ACTIVE SITE; ENZYME ACTIVITY; ENZYME STRUCTURE; ENZYME SUBSTRATE COMPLEX; GAUCHER DISEASE; GENE MUTATION; LYSOSOME; MOLECULAR DYNAMICS; PH; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN FOLDING; STRUCTURE ANALYSIS;

1-DEOXYNOJIRIMYCIN; BINDING, COMPETITIVE; CATALYTIC DOMAIN; GAUCHER DISEASE; GLUCOSYLCERAMIDASE; HUMANS; HYDROGEN BONDING; HYDROGEN-ION CONCENTRATION; MODELS, GENETIC; MODELS, STATISTICAL; MUTATION; PROTEIN FOLDING; SAPOSINS; SOLVENTS; SUBSTRATE SPECIFICITY;

EID: 78650659877     PISSN: 00219258     EISSN: 1083351X     Source Type: Journal    
DOI: 10.1074/jbc.M110.172098     Document Type: Article

References (65)

1. Futerman, A. H., and Zimran, A. (2006) Gaucher Disease, Taylor and Francis Group, Boca Raton, FL
2. Grabowski, G. A. (1993) Adv. Hum. Genet. 21, 377-441
3. Lee, R. E. (1982) Prog. Clin. Biol. Res. 95, 177-217
4. Stenson, P. D., Mort, M., Ball, E. V., Howells, K., Phillips, A. D., Thomas, N. S., and Cooper, D. N. (2009) Genome Med. 1, 13
5. Zimran, A., Liphshitz, I., Barchana, M., Abrahamov, A., and Elstein, D. (2005) Blood Cells Mol. Dis. 34, 197-200
6. Shiran, A., Brenner, B., Laor, A., and Tatarsky, I. (1993) Cancer 72, 219-224
7. Rosenbloom, B. E., Weinreb, N. J., Zimran, A., Kacena, K. A., Charrow, J., and Ward, E. (2005) Blood 105, 4569-4572
8. de Fost, M., Vom Dahl, S., Weverling, G. J., Brill, N., Brett, S., Häussinger, D., and Hollak, C. E. (2006) Blood Cells Mol. Dis. 36, 53-58
9. Sidransky, E., Nalls, M. A., Aasly, J. O., Aharon-Peretz, J., Annesi, G., Barbosa, E. R., Bar-Shira, A., Berg, D., Bras, J., Brice, A., Chen, C. M., Clark, L. N., Condroyer, C., De Marco, E. V., Dürr, A., Eblan, M. J., Fahn, S., Farrer, M. J., Fung, H. C., Gan-Or, Z., Gasser, T., Gershoni-Baruch, R., Giladi, N., Griffith, A., Gurevich, T., Januario, C., Kropp, P., Lang, A. E., Lee-Chen, G. J., Lesage, S., Marder, K., Mata, I. F., Mirelman, A., Mitsui, J., Mizuta, I., Nicoletti, G., Oliveira, C., Ottman, R., Orr-Urtreger, A., Pereira, L. V., Quattrone, A., Rogaeva, E., Rolfs, A., Rosenbaum, H., Rozenberg, R., Samii, A., Samaddar, T., Schulte, C., Sharma, M., Singleton, A., Spitz, M., Tan, E. K., Tayebi, N., Toda, T., Troiano, A. R., Tsuji, S., Wittstock, M., Wolfsberg, T. G., Wu, Y. R., Zabetian, C. P., Zhao, Y., and Ziegler, S. G. (2009) N. Engl. J. Med. 361, 1651-1661
10. Mitsui, J., Mizuta, I., Toyoda, A., Ashida, R., Takahashi, Y., Goto, J., Fukuda, Y., Date, H., Iwata, A., Yamamoto, M., Hattori, N., Murata, M., Toda, T., and Tsuji, S. (2009) Arch. Neurol. 66, 571-576
11. Weinreb, N. J., Charrow, J., Andersson, H. C., Kaplan, P., Kolodny, E. H., Mistry, P., Pastores, G., Rosenbloom, B. E., Scott, C. R., Wappner, R. S., and Zimran, A. (2002) Am. J. Med. 113, 112-119
12. Pastores, G. M., Sibille, A. R., and Grabowski, G. A. (1993) Blood 82, 408-416
13. Grabowski, G. A., and Hopkin, R. J. (2003) Annu. Rev. Genomics Hum. Genet. 4, 403-436
14. Grabowski, G. A., Barton, N. W., Pastores, G., Dambrosia, J. M., Banerjee, T. K., McKee, M. A., Parker, C., Schiffmann, R., Hill, S. C., and Brady, R. O. (1995) Ann. Intern. Med. 122, 33-39
15. Beutler, E. (2004) PLoS Med. 1, e21
16. Barton, N. W., Brady, R. O., Dambrosia, J. M., Di Bisceglie, A. M., Doppelt, S. H., Hill, S. C., Mankin, H. J., Murray, G. J., Parker, R. I., Argoff, C. E., et al. (1991) N. Engl. J. Med. 324, 1464-1470
17. Platt, F. M., Jeyakumar, M., Andersson, U., Dwek, R. A., and Butters, T. D. (2005) Adv. Exp. Med. Biol. 564, 117-126
18. Beck, M. (2007) Hum. Genet. 121, 1-22
19. Pastores, G. M., and Barnett, N. L. (2003) Expert Opin. Investig. Drugs 12, 273-281
20. Fan, J. Q. (2003) Trends Pharmacol. Sci. 24, 355-360
21. Alfonso, P., Pampín, S., Estrada, J., Rodríguez-Rey, J. C., Giraldo, P., Sancho, J., and Pocoví, M. (2005) Blood Cells Mol. Dis. 35, 268-276
22. Sawkar, A. R., Cheng, W. C., Beutler, E., Wong, C. H., Balch, W. E., and Kelly, J. W. (2002) Proc. Natl. Acad. Sci. U.S.A. 99, 15428-15433
23. Brumshtein, B., Greenblatt, H. M., Butters, T. D., Shaaltiel, Y., Aviezer, D., Silman, I., Futerman, A. H., and Sussman, J. L. (2007) J. Biol. Chem. 282, 29052-29058
24. Luan, Z., Higaki, K., Aguilar-Moncayo, M., Ninomiya, H., Ohno, K., García-Moreno, M. I., Ortiz Mellet, C., García Fernández, J. M., and Suzuki, Y. (2009) ChemBioChem 10, 2780-2792
25. Steet, R. A., Chung, S., Wustman, B., Powe, A., Do, H., and Kornfeld, S. A. (2006) Proc. Natl. Acad. Sci. U.S.A. 103, 13813-13818
26. Wang, G. N., Reinkensmeier, G., Zhang, S. W., Zhou, J., Zhang, L. R., Zhang, L. H., Butters, T. D., and Ye, X. S. (2009) J. Med. Chem. 52, 3146-3149
27. Yu, Z., Sawkar, A. R., Whalen, L. J., Wong, C. H., and Kelly, J. W. (2007) J. Med. Chem. 50, 94-100
28. Zheng, W., Padia, J., Urban, D. J., Jadhav, A., Goker-Alpan, O., Simeonov, A., Goldin, E., Auld, D., LaMarca, M. E., Inglese, J., Austin, C. P., and Sidransky, E. (2007) Proc. Natl. Acad. Sci. U.S.A. 104, 13192-13197
29. Alfonso, P., Rodríguez-Rey, J. C., Gañán, A., Pérez-Calvo, J. I., Giralt, M., Giraldo, P., and Pocoví, M. (2004) Blood Cells Mol. Dis. 32, 218-225
30. Hodanová, K., Melková, Z., Horowitz, M., and Hrebícek, M. (2003) Eur. J. Hum. Genet. 11, 369-374
31. Kornhaber, G. J., Tropak, M. B., Maegawa, G. H., Tuske, S. J., Coales, S. J., Mahuran, D. J., and Hamuro, Y. (2008) ChemBioChem 9, 2643-2649
32. Liou, B., Kazimierczuk, A., Zhang, M., Scott, C. R., Hegde, R. S., and Grabowski, G. A. (2006) J. Biol. Chem. 281, 4242-4253
33. Montfort, M., Chabás, A., Vilageliu, L., and Grinberg, D. (2004) Hum. Mutat. 23, 567-575
34. Kacher, Y., Brumshtein, B., Boldin-Adamsky, S., Toker, L., Shainskaya, A., Silman, I., Sussman, J. L., and Futerman, A. H. (2008) Biol. Chem. 389, 1361-1369
35. Lieberman, R. L., Wustman, B. A., Huertas, P., Powe, A. C., Jr., Pine, C. W., Khanna, R., Schlossmacher, M. G., Ringe, D., and Petsko, G. A. (2007) Nat. Chem. Biol. 3, 101-107
36. Steet, R., Chung, S., Lee, W. S., Pine, C. W., Do, H., and Kornfeld, S. (2007) Biochem. Pharmacol. 73, 1376-1383
37. Chang, H. H., Asano, N., Ishii, S., Ichikawa, Y., and Fan, J. Q. (2006) FEBS J. 273, 4082-4092
38. Salvioli, R., Tatti, M., Scarpa, S., Moavero, S. M., Ciaffoni, F., Felicetti, F., Kaneski, C. R., Brady, R. O., and Vaccaro, A. M. (2005) Biochem. J. 390, 95-103
39. Atrian, S., López-Viñas, E., Gómez-Puertas, P., Chabás, A., Vilageliu, L., and Grinberg, D. (2008) Proteins 70, 882-891
40. Liou, B., and Grabowski, G. A. (2009) Mol. Genet. Metab. 97, 65-74
41. Sawkar, A. R., D'Haeze, W., and Kelly, J. W. (2006) Cell. Mol. Life Sci. 63, 1179-1192
42. Canutescu, A. A., Shelenkov, A. A., and Dunbrack, R. L., Jr. (2003) Protein Sci. 12, 2001-2014
43. Mongan, J., Case, D. A., and McCammon, J. A. (2004) J. Comput. Chem. 25, 2038-2048
44. Gordon, J. C., Myers, J. B., Folta, T., Shoja, V., Heath, L. S., and Onufriev, A. (2005) Nucleic Acids Res. 33, W368-W371
45. Dvir, H., Harel, M., McCarthy, A. A., Toker, L., Silman, I., Futerman, A. H., and Sussman, J. L. (2003) EMBO Rep. 4, 704-709
46. Premkumar, L., Sawkar, A. R., Boldin-Adamsky, S., Toker, L., Silman, I., Kelly, J. W., Futerman, A. H., and Sussman, J. L. (2005) J. Biol. Chem. 280, 23815-23819
47. Mezei, M. (1997) J. Comp. Chem. 18, 812-815
48. Case, D. A., Darden, T., Cheatham, T. E., 3rd, Wang, J., Duke, R., Luo, R., Merz, K., Pearlman, D., Crowley, M., Walker, R., Zhang, W., Wang, B., Hayik, S., Roitberg, A., Seabra, G., Wong, K. F., Paesani, F., Wu, X., Brozell, S., Tsui, V., Gohlke, H., Yang, L., Tan, C., Mongan, J., Hornak, V., Cui, G., Beroza, P., Mathews, D. H., Schafmeister, C., Ross, W. S., and Kollman, P. A. (2006) AMBER, version 9, University of California, San Francisco
49. Duan, Y., Wu, C., Chowdhury, S., Lee, M. C., Xiong, G., Zhang, W., Yang, R., Cieplak, P., Luo, R., Lee, T., Caldwell, J., Wang, J., and Kollman, P. (2003) J. Comput. Chem. 24, 1999-2012
50. Frisch, M. J., Trucks, G. W., Schlegel, H. B., Scuseria, G. E., Robb, M. A., Cheeseman, J. R., Montgomery, J., Vreven, T., Kudin, K. N., Burant, J. C., Millam, J. M., Iyengar, S. S., Tomasi, J., Barone, V., Mennucci, B., Cossi, M., Scalmani, G., Rega, N., Petersson, G. A., Nakatsuji, H., Hada, M., Ehara, M., Toyota, K., Fukuda, R., Hasegawa, J., Ishida, M., Nakajima, T., Honda, Y., Kitao, O., Nakai, H., Klene, M., Li, X., Knox, J. E., Hratchian, H. P., Cross, J. B., Bakken, V., Adamo, C., Jaramillo, J., Gomperts, R., Stratmann, R. E., Yazyev, O., Austin, A. J., Cammi, R., Pomelli, C., Ochterski, J. W., Ayala, P. Y., Morokuma, K., Voth, G. A., Salvador, P., Dannenberg, J. J., Zakrzewski, V. G., Dapprich, S., Daniels, A. D., Strain, M. C., Farkas, O., Malick, D. K., Rabuck, A. D., Raghavachari, K., Foresman, J. B., Ortiz, J. V., Cui, Q., Baboul, A. G., Clifford, S., Cioslowski, J., Stefanov, B. B., Liu, G., Liashenko, A., Piskorz, P., Komaromi, I., Martin, R. L., Fox, D. J., Keith, T., Al-Laham, M. A., Peng, C. Y., Nanayakkara, A., Challacombe, M., Gill, P. M. W., Johnson, B., Chen, W., Wong, M. W., Gonzalez, C., and Pople, J. A. (2004) Gaussian 03. Revision C.02 Ed., Gaussian, Inc., Wallingford, CT
51. Damborský, J., Petrek, M., Banás, P., and Otyepka, M. (2007) Biotechnol. J. 2, 62-67
52. Offman, M. N., Fitzjohn, P. W., and Bates, P. A. (2006) Bioinformatics 22, 1838-1845
53. Humphrey, W., Dalke, A., and Schulten, K. (1996) J. Mol. Graph. 14, 33-38
54. Brumshtein, B., Wormald, M. R., Silman, I., Futerman, A. H., and Sussman, J. L. (2006) Acta Crystallogr. D Biol. Crystallogr. 62, 1458-1465
55. Porter, C. T., Bartlett, G. J., and Thornton, J. M. (2004) Nucleic Acids Res. 32, D129-D133
56. Srinivasan, R., and Rose, G. D. (1999) Proc. Natl. Acad. Sci. U.S.A. 96, 14258-14263
57. Cavallo, L., Kleinjung, J., and Fraternali, F. (2003) Nucleic Acids Res. 31, 3364-3366
58. Lieberman, R. L., D'aquino, J. A., Ringe, D., and Petsko, G. A. (2009) Biochemistry 48, 4816-4827
59. Vaccaro, A. M., Tatti, M., Ciaffoni, F., Salvioli, R., Barca, A., and Scerch, C. (1997) J. Biol. Chem. 272, 16862-16867
60. Wilkening, G., Linke, T., and Sandhoff, K. (1998) J. Biol. Chem. 273, 30271-30278
61. Benedix, A., Becker, C. M., de Groot, B. L., Caflisch, A., and Böckmann, R. A. (2009) Nat. Methods 6, 3-4
62. Burley, S. K., and Petsko, G. A. (1986) FEBS Lett. 203, 139-143
63. Brumshtein, B., Salinas, P., Peterson, B., Chan, V., Silman, I., Sussman, J. L., Savickas, P. J., Robinson, G. S., and Futerman, A. H. (2010) Glycobiology 20, 24-32
64. Davies, G., and Henrissat, B. (1995) Structure 3, 853-859
65. Lin, H., Sugimoto, Y., Ohsaki, Y., Ninomiya, H., Oka, A., Taniguchi, M., Ida, H., Eto, Y., Ogawa, S., Matsuzaki, Y., Sawa, M., Inoue, T., Higaki, K., Nanba, E., Ohno, K., and Suzuki, Y. (2004) Biochim. Biophys. Acta 1689, 219-228