X-ray and biochemical analysis of N370S mutant human acid β-glucosidase

Journal of Biological Chemistry

Volumn 286, Issue 1, 2011, Pages 299-308

  Wei, Ronnie R ^a   Hughes, Heather ^a   Boucher, Susan ^a   Bird, Julie J ^a   Guziewicz, Nicholas ^a   Van Patten, Scott M ^a   Qiu, Huawei ^a   Pan, Clark Qun ^a   Edmunds, Tim ^a  

^a GENZYME CORPORATION   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ACTIVE SITE; AROMATIC RESIDUES; BIOCHEMICAL ANALYSIS; BIOCHEMICAL PROPERTIES; CATALYTIC ACTIVITY; CATALYTIC RESIDUE; DEOXYNOJIRIMYCIN; GAUCHER DISEASE; GLUCOPYRANOSIDE; GLUCOSIDASE; HYDROGEN BONDINGS; INSECT CELLS; LYSOSOMAL DEGRADATION; MUTANT HUMAN; MUTANT PROTEINS; MUTATION RESULTS; NEUTRAL PH; PH-DEPENDENT; PURIFIED PROTEIN; REDUCED SENSITIVITY; THERMAL DENATURATIONS; TRYPTOPHAN RESIDUES; X-RAY STRUCTURE;

AMINO ACIDS; CIRCULAR DICHROISM SPECTROSCOPY; DICHROISM; ENZYME INHIBITION; HYDROGEN BONDS; PROTEINS; X RAYS;

CATALYST ACTIVITY;

BETA GLUCOSIDASE;

ANIMAL CELL; ARTICLE; CIRCULAR DICHROISM; CONTROLLED STUDY; CRYSTALLIZATION; DEGLYCOSYLATION; DIFFERENTIAL SCANNING CALORIMETRY; ENZYME ACTIVITY; GENE MUTATION; NONHUMAN; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN CONFORMATION; PROTEIN DENATURATION; PROTEIN FOLDING; PROTEIN PROCESSING; PROTEIN PURIFICATION; PROTEIN STABILITY; PROTEIN STRUCTURE; RAT;

ANIMALS; BIOPHYSICAL PROCESSES; CALORIMETRY, DIFFERENTIAL SCANNING; CATALYTIC DOMAIN; CELL LINE; CIRCULAR DICHROISM; CRYSTALLOGRAPHY, X-RAY; ENZYME STABILITY; GLUCOSYLCERAMIDASE; HALF-LIFE; HUMANS; HYDROGEN-ION CONCENTRATION; INTRACELLULAR SPACE; MODELS, MOLECULAR; MUTANT PROTEINS; MUTATION; RATS;

HEXAPODA;

EID: 78650939096     PISSN: 00219258     EISSN: 1083351X     Source Type: Journal    
DOI: 10.1074/jbc.M110.150433     Document Type: Article

References (37)

1. Brady, R. O., Kanfer, J. N., Bradley, R. M., and Shapiro, D. (1966) J. Clin. Invest. 45, 1112-1115
2. Grabowski, G. A., Petsko, G. A., and Kolodny, E. H. (2006) in Metabolic and Molecular Bases of Inherited Disease (Scriver, C. R., Beaudet, A. L., Valle, D., Sly, W. S., Vogelstein, B., Childs, B., and Kinzler, K. W., eds) McGraw-Hill Inc., New York
3. Beutler, E., Gelbart, T., and Scott, C. R. (2005) Blood Cells Mol. Dis. 35, 355-364
4. Grace, M. E., Graves, P. N., Smith, F. I., and Grabowski, G. A. (1990) J. Biol. Chem. 265, 6827-6835
5. Grace, M. E., Newman, K. M., Scheinker, V., Berg-Fussman, A., and Grabowski, G. A. (1994) J. Biol. Chem. 269, 2283-2291
6. Ho, M. W., and O'Brien, J. S. (1971) Proc. Natl. Acad. Sci. U.S.A. 68, 2810-2813
7. Peters, S. P., Coyle, P., Coffee, C. J., Glew, R. H., Ho, M. W., O'Brien, J. S., Radin, N. S., and Erickson, J. S. (1977) J. Biol. Chem. 252, 563-573
8. Basu, A., and Glew, R. H. (1985) J. Biol. Chem. 260, 13067-13073
9. Dale, G. L., Villacorte, D. G., and Beutler, E. (1976) Biochem. Biophys. Res. Commun. 71, 1048-1053
10. Blonder, E., Klibansky, C., and de Vries, A. (1976) Biochim. Biophys. Acta 431, 45-53
11. Liou, B., Kazimierczuk, A., Zhang, M., Scott, C. R., Hegde, R. S., and Grabowski, G. A. (2006) J. Biol. Chem. 281, 4242-4253
12. Ohashi, T., Hong, C. M., Weiler, S., Tomich, J. M., Aerts, J. M., Tager, J. M., and Barranger, J. A. (1991) J. Biol. Chem. 266, 3661-3667
13. 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
14. Michelin, K., Wajner, A., Bock, H., Fachel, A., Rosenberg, R., Pires, R. F., Pereira, M. L., Giugliani, R., and Coelho, J. C. (2005) Clin. Chim. Acta 362, 101-109
15. Ron, I., and Horowitz, M. (2005) Hum. Mol. Genet 14, 2387-2398
16. Bergmann, J. E., and Grabowski, G. A. (1989) Am. J. Hum. Genet. 44, 741-750
17. 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
18. Schmitz, M., Alfalah, M., Aerts, J. M., Naim, H. Y., and Zimmer, K. P. (2005) Int. J. Biochem. Cell Biol. 37, 2310-2320
19. Reczek, D., Schwake, M., Schröder, J., Hughes, H., Blanz, J., Jin, X., Brondyk, W., Van Patten, S., Edmunds, T., and Saftig, P. (2007) Cell 131, 770-783
20. 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
21. Sawkar, A. R., Schmitz, M., Zimmer, K. P., Reczek, D., Edmunds, T., Balch, W. E., and Kelly, J. W. (2006) ACS Chem. Biol. 1, 235-251
22. Shen, J. S., Edwards, N. J., Hong, Y. B., and Murray, G. J. (2008) Biochem. Biophys. Res. Commun. 369, 1071-1075
23. Steet, R., Chung, S., Lee, W. S., Pine, C. W., Do, H., and Kornfeld, S. (2007) Biochem. Pharmacol. 73, 1376-1383
24. Brumshtein, B., Wormald, M. R., Silman, I., Futerman, A. H., and Sussman, J. L. (2006) Acta Crystallogr. D. Biol. Crystallogr. 62, 1458-1465
25. Dvir, H., Harel, M., McCarthy, A. A., Toker, L., Silman, I., Futerman, A. H., and Sussman, J. L. (2003) EMBO Rep. 4, 704-709
26. 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
27. 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
28. Lieberman, R. L., D'aquino, J. A., Ringe, D., and Petsko, G. A. (2009) Biochemistry 48, 4816-4827
29. 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
30. 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
31. Leslie, A. G. (1992) Joint CCP4 + ESF-EAMCB Newsletter on Protein Crystallography, No. 26
32. Evans, P. R. (2006) Acta Crystallogr. D Biol. Crystallogr. 62, 72-82
33. Vaguine, A. A., Richelle, J., and Wodak, S. J. (1999) Acta Crystallogr. D Biol. Crystallogr. 55, 191-205
34. Emsley, P., and Cowtan, K. (2004) Acta Crystallogr. D Biol. Crystallogr. 60, 2126-2132
35. Murshudov, G. N., Vagin, A. A., and Dodson, E. J. (1997) Acta Crystallogr. D Biol. Crystallogr. 53, 240-255
36. Piepenhagen, P. A., Vanpatten, S., Hughes, H., Waire, J., Murray, J., Andrews, L., Edmunds, T., O'Callaghan, M., and Thurberg, B. L. (2010) Microsc. Res. Tech. 73, 694-703
37. Liou, B., and Grabowski, G. A. (2009) Mol. Genet. Metab. 97, 65-74