Analyses of variant acid β-glucosidases: Effects of Gaucher disease mutations

Journal of Biological Chemistry

Volumn 281, Issue 7, 2006, Pages 4242-4253

  Liou, Benjamin ^a,b   Kazimierczuk, Andrzej ^a,b   Zhang, Min ^c   Scott, C Ronald ^c   Hegde, Rashmi S ^a,b   Grabowski, Gregory A ^a,b  

^a CINCINNATI CHILDREN S HOSPITAL RESEARCH FOUNDATION   (United States)

^b UNIVERSITY OF CINCINNATI COLLEGE OF MEDICINE   (United States)

^c UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACIDS; CELLS; GENETIC ENGINEERING; MUTAGENESIS; REACTION KINETICS; SUBSTITUTION REACTIONS;

DISEASE MUTATIONS; GLUCOSIDASES; PHENOTYPES; VARIANT ACID;

DISEASES;

ARGININE; BINDING PROTEIN; CASTANOSPERMINE; CATHEPSIN D; CONDURITOL B EPOXIDE; CYSTEINE; DEOXYNOJIRIMYCIN DERIVATIVE; ENZYME VARIANT; GLUCOSYLCERAMIDASE; HISTIDINE; HYDROLASE INHIBITOR; PHOSPHATIDYLSERINE; PHOSPHOLIPID; SPHINGOLIPID ACTIVATOR PROTEIN; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ARTICLE; BINDING SITE; CARBOXY TERMINAL SEQUENCE; CATALYSIS; CONTROLLED STUDY; COVALENT BOND; CRYSTAL STRUCTURE; DEGLYCOSYLATION; DISULFIDE BOND; ENZYME ACTIVATION; ENZYME ACTIVITY; ENZYME ANALYSIS; ENZYME KINETICS; ENZYME PURIFICATION; ENZYME STABILITY; ENZYME STRUCTURE; GAUCHER DISEASE; HUMAN; HUMAN CELL; INSECT; MOUSE; NONHUMAN; PHYLOGENY; POINT MUTATION; PRIORITY JOURNAL; PROTEIN EXPRESSION; SENSITIVITY ANALYSIS; SITE DIRECTED MUTAGENESIS; WILD TYPE; AMINO ACID SEQUENCE; CHEMISTRY; CRYSTALLIZATION; GENETICS; GLYCOSYLATION; MOLECULAR GENETICS; PH;

INSECTA;

AMINO ACID SEQUENCE; CRYSTALLIZATION; ENZYME ACTIVATION; GAUCHER DISEASE; GLUCOSYLCERAMIDASE; GLYCOSYLATION; HUMANS; HYDROGEN-ION CONCENTRATION; MOLECULAR SEQUENCE DATA; PHOSPHATIDYLSERINES; POINT MUTATION; SAPOSINS;

EID: 33645243798     PISSN: 00219258     EISSN: 1083351X     Source Type: Journal    
DOI: 10.1074/jbc.M511110200     Document Type: Article

References (65)

1. Brady, R. O., Kanfer, J. N., and Shapiro, D. (1965) Biochem. Biophys. Res. Commun. 18, 221-225
2. Beutler, E., and Grabowski, G. A. (2001) in The Metabolic and Molecular Bases of Inherited Diseases (Scriver, C. R., Beaudet, A. L., Sly, W. S., and Valle, D., eds) 8th Ed., pp. 3635-3668, McGraw-Hill Inc., New York
3. Bergmann, J. E., and Grabowski, G. A. (1989) Am. J. Hum. Genet. 44, 741-750
4. Erickson, A. H., Ginns, E. I., and Barranger, J. A. (1985) J. Biol. Chem. 260, 14319-14324
5. Berg-Fussman, A., Grace, M. E., Ioannou, Y., and Grabowski, G. A. (1993) J. Biol. Chem. 268, 14861-14866
6. Grace, M. E., and Grabowski, G. A. (1990) Biochem. Biophys. Res. Commun. 168, 771-777
7. Tsuji, S., Choudary, P. V., Martin, B. M., Winfield, S., Barranger, J. A., and Ginns, E. I. (1986) J. Biol. Chem. 261, 50-53
8. Jonsson, L. M., Murray, G. J., Sorrell, S. H., Strijland, A., Aerts, J. F., Ginns, E. I., Barranger, J. A., Tager, J. M., and Schram, A. W. (1987) Eur. J. Biochem. 164, 171-179
9. Rijnboutt, S., Aerts, H. M., Geuze, H. J., Tager, J. M., and Strous, G. J. (1991) J. Biol. Chem. 266, 4862-4868
10. Leonova, T., and Grabowski, G. A. (2000) Mol. Genet. Metab. 70, 281-294
11. Withers, S. G., Rupitz, K., Trimbur, D., and Warren, R. A. J. (1992) Biochemistry 31, 9979-9985
12. Kempton, J. B., and Withers, S. G. (1992) Biochemistry 31, 9961-9969
13. Paal, K., Ito, M., and Withers, S. G. (2004) Biochem. J. 378, 141-149
14. Miao, S., McCarter, J., Tull, D., Grace, M. E., Grabowski, G. A., Withers, S. G., and Aebersold, R. (1994) J. Biol. Chem. 269, 10975-10978
15. Liou, B. (1996) Mechanistic Studies of Normal and Mutant Acid β-Glucosidase. M.S. thesis, University of Cincinnati, Cincinnati, OH
16. Fabrega, S., Durand, P., Codogno, P., Bauvy, C., Delomenie, C., Henrissat, B., Martin, B. M., McKinney, C., Ginns, E. I., Mornon, J. P., and Lehn, P. (2000) Glycobiology 10, 1217-1224
17. Premkumar, L., Sawkar, A.R., Boldin-Adamsky, S., Toker, L., Silman, I., Kelly, J. W., Futerman, T., Sussman, J. L. (2005) J. Biol. Chem. 280, 23815-23819
18. Vaccaro, A. M., Salvioli, R., Barca, A., Tatti, M., Ciaffoni, F., Maras, B., Siciliano, R., Zappacosta, F., Amoresano, A., and Pucci, P. (1995) J. Biol. Chem. 270, 9953-9960
19. Qi, X., Qin, W., Sun, Y., Kondoh, K., and Grabowski, G. A. (1996) J. Biol. Chem. 271, 6874-6880
20. Qi, X., and Grabowski, G. A. (1998) Biochemistry 37, 11544-11554
21. Sun, Y., Qi, X., and Grabowski, G. A. (2003) J. Biol. Chem. 278, 31918-31923
22. Hawkins, C. A., Alba, E., and Tjandra, N. (2005) J. Mol. Biol. 346, 1381-1392
23. Qi, X., Kondoh, K., Krusling, D., Kelso, G. J., Leonova, T., and Grabowski, G. A. (1999) Biochemistry 38, 6284-6291
24. Christomanou, H., Chabas, A., Pampols, T., and Guardiola, A. (1989) Klin. Wochenschr. 67, 999-1003
25. Pampols, T., Pineda, M., Giros, M. L., Ferrer, I., Cusi, V., Chabas, A., Sanmarti, F. X., Vanier, M. T., and Christomanou, H. (1999) Acta Neuropathologica 97, 91-97
26. Sidransky, E. (2004) Mol. Genet. Metab. 83, 6-15
27. Fabbro, D., Desnick, R. J., and Grabowski, G. A. (1987) Am. J. Hum. Genet. 40, 15-31
28. Grace, M. E., Desnick, R. J., and Pastores, G. M. (1997) J. Clin. Invest. 99, 2530-2537
29. Bodamer, O. A., Church, H. J., Cooper, A., Wraith, J. E., Scott, C. R., and Scaglia, F. (2002) Am. J. Med. Genet. 109, 328-331
30. Xu, Y. H., Quinn, B., Witte, D., and Grabowski, G. A. (2003) Am. J. Pathol. 163, 2093-2101
31. Grace, M. E., Graves, P. N., Smith, F. I., and Grabowski, G. A. (1990) J. Biol. Chem. 265, 6827-6835
32. Grace, M. E., Newman, K. M., Scheinker, V., He, G.-S., Berg-Fussman, A., and Grabowski, G. A. (1994) J. Biol. Chem. 269, 2283-2291
33. Dvir, H., Harel, M., McCarthy, A. A., Toker, L., Silman, I., Futerman, A. H., and Sussman, J. L. (2003) EMBO Rep. 4, 704-709
34. Qi, X., Leonova, T., and Grabowski, G. A. (1994) J. Biol. Chem. 269, 16746-16753
35. Xu, Y. H., Busald, C., and Grabowski, G. A. (2000) Mol. Genet. Metab. 70, 106-115
36. Zhao, H., Bailey, L., Arnold, G. L., Grabowski, G. A. (2003) Clin. Genet. 64, 57-64
37. Grace, M. E., Berg, A., He, G. S., Goldberg, L., Horowitz, M., and Grabowski, G. A. (1991) Am. J. Hum. Genet. 49, 646-655
38. Brautbar, A., Elstein, D., Abrahamov, A., Zeigler, M., Chicco, G., Beutler, E., Scott, C. R., and Zimran, A. (2003) Blood Cells Mol. Dis. 31, 187-189
39. Schmitz, M., Alfalah, M., Aerts, J. M., Naim, H. Y., and Zimmer, K. P. (2005) Int. J. Biochem. Cell Biol. 37, 2310-2320
40. Ron, I., and Horowitz, M. (2005) Hum. Mol. Genet. 14, 2387-2398
41. Kim, J.-W., Ponce, E., Lai, M.-Y., Liou, B., and Grabowski, G. A. (1996) Hum. Mutat. 7, 214-218
42. Seeman, E., Finckh, U., Hoppner, J., Lakner, V., Liebisch, I., Grau, G., and Rolfs, A. (1996) Neurology 46, 1102-1107
43. Shamseddine, A., Taher, A., Fakhani, S., Zhang, M., Scott, C. R., and Habbal, M. Z. (2004) Am. J. Med. Genet. 125, 257-260
44. Strasberg, P. M., Skomorowski, M. A., Warren, I. B., Hilson, W. L., Callahan, J. W., and Clarke, J. T. (1994) Biochem. Med. Metab. Biol. 53, 16-21
45. Tsuji, S., Martin, B. M., Barranger, J. A., Stubblefield, B. K., LaMarca, M. E., and Ginns, E. I. (1988) Proc. Natl. Acad. Sci. U. S. A. 85, 2349-2352
46. Verghese, J., Goldberg, R. F., Desnick, R. J., Grace, M. E., Goldman, J. E., Lee, S. C., Dickson, D. W., and Rapin, I. (2000) Arch. Neurol. 57, 389-395
47. Horowitz, M., Pasmanik-Chor, M., Borochowitz, Z., Falik-Zaccai, T., Heldmann, K., Carmi, R., Parvari, R., Beit-Or, H., Goldman, B., Peleg, L., Levy-Lahad, E., Renbaum, P., Legum, S., Shomrat, R., Yeger, H., Benbenisti, D., Navon, R., Dror, V., Shohat, M., Magal, N., Navot, N., and Eyal, N. (1998) Hum. Mutat. 12, 240-244
48. Park, J. K., Orvisky, E., Tayebi, N., Kaneski, C., Lamarca, M. E., Stubblefield, B. K., Martin, B. M., Schiffmann, R., and Sidransky, E. (2003) Pediatr. Res. 53, 387-395
49. Wertz, P. W., and Downing, D. T. (1989) Comp. Biochem. Physiol. B Comp. Biochem. 93, 265-269
50. Uchida, Y., Hara, M., Nishio, H., Sidransky, E., Inoue, S., Otsuka, F., Suzuki, A., Elias, P. M., Holleran, W. M., and Hamanaka, S. (2000) J. Lipid Res. 41, 2071-2082
51. Tybulewicz, V. L. J., Tremblay, M. L., LaMarca, M. E., Willemsen, R., Stubblefield, B. K., Winfield, S., Zablocka, B., Sidransky, E., Martin, B. M., Huang, S. P., Mintzer, K. A., Westphal, H., Mulligan, R. C., and Ginns, E. I. (1992) Nature 357, 407-410
52. Gray, G. M., Yardley, H. J. (1975) J. Lipid Res. 16, 434-440
53. Grabowski, G. A., Gatt, S., and Horowitz, M. (1990) Crit. Rev. Biochem. Mol. Biol. 25, 385-414
54. Koprivica, V., Stone, D. L., Park, J. K., Callahan, M., Frisch, A., Cohen, I. J., Tayebi, N., and Sidransky, E. (2000) Am. J. Hum. Genet. 66, 1777-1786
55. Zhao, H., Bailey, L. A., Elsas, L. J., 2nd, Grinzaid, K. A., and Grabowski, G. A. (2003) Am. J. Med. Genet. 116, 52-56
56. Graves, P. N., Grabowski, G. A., Eisner, R., Palese, P., and Smith, F. I. (1988) DNA 7, 521-528
57. Alfonso, P., Rodri, guez-Rey, J. C., Ganan, A., Perez-Calvo, J. I., Giralt, M., Giraldo, P., and Pocovi, M. (2004) Blood Cells Mol. Dis. 32, 218-225
58. Stone, D. L., Tayebi, N., Orvisky, E., Stubblefield, B., Madike, V., and Sidransky, E. (2000) Hum. Mutat. 15, 181-188
59. He, G.-S., Grace, M. E., and Grabowski, G. A. (1992) Hum. Mutat. 1, 423-427
60. Eyal, N., Firon, N., Wilder, S., Kolodny, E. H., and Horowitz, M. (1991) Hum. Genet. 87, 328-332
61. Theophilus, B. D., Latham, T., Grabowski, G. A., and Smith, F. I. (1989) Nucleic Acids Res. 17, 7707-7722
62. Tayebi, N., Nerman, J., Ginns, E. I., and Sidransky, E. (1996) Biochem. Mol. Med. 57, 149-151
63. Tsuji, S., Choudary, P. V., Martin, B. M., Stubblefield, B. K., Mayor, J. A., Barranger, J. A., and Ginns, E. I. (1987) N. Engl. J. Med. 316, 570-575
64. Otwinowski, Z., and Minor, W. (1997) Methods Enzymol. 276, 307-326
65. Brunger, A. T., Adams, P. D., Clore, G. M., DeLano, W. L., Gros, P., Grosse-Kunstleve, R. W., Jiang, J. S., Kuszewski, J., Nilges, M., Pannu, N. S., Read, R. J., Rice, L. M., Simonson, T., and Warren, G. L. (1998) Acta Crystallogr. Sect. D Biol. Crystallogr. 54, 905-921