Chemical chaperones increase the cellular activity of N370S β-glucosidase: A therapeutic strategy for Gaucher disease

Proceedings of the National Academy of Sciences of the United States of America

Volumn 99, Issue 24, 2002, Pages 15428-15433

  Sawkar, Anu R ^a   Cheng, Wei Chieh ^a   Beutler, Ernest ^a   Wong, Chi Huey ^a   Balch, William E ^a   Kelly, Jeffery W ^a  

^a SCRIPPS RESEARCH INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BETA GLUCOSIDASE; CHAPERONE; GLUCOSYLCERAMIDE; N (N NONYL)DEOXYNOJIRIMYCIN; NOJIRIMYCIN; UNCLASSIFIED DRUG;

ARTICLE; CONCENTRATION RESPONSE; CONTROLLED STUDY; ENDOPLASMIC RETICULUM; ENZYME ACTIVITY; FIBROBLAST; GAUCHER DISEASE; GENE MUTATION; GOLGI COMPLEX; HUMAN; HUMAN CELL; LYSOSOME; PRIORITY JOURNAL; PROTEIN DENATURATION; PROTEIN FOLDING; PROTEIN STABILITY; PROTEIN TRANSPORT;

1-DEOXYNOJIRIMYCIN; ALKYLATION; AMINO ACID SUBSTITUTION; BETA-GLUCOSIDASE; CELLS, CULTURED; DOSE-RESPONSE RELATIONSHIP, DRUG; ENDOPLASMIC RETICULUM; FIBROBLASTS; GAUCHER DISEASE; GOLGI APPARATUS; HETEROCYCLIC COMPOUNDS; HUMANS; HYDROGEN-ION CONCENTRATION; LYSOSOMES; MOLECULAR STRUCTURE; MORPHOLINES; PROTEIN DENATURATION; PROTEIN FOLDING; PROTEIN TRANSPORT; STRUCTURE-ACTIVITY RELATIONSHIP;

EID: 0037180511     PISSN: 00278424     EISSN: None     Source Type: Journal    
DOI: 10.1073/pnas.192582899     Document Type: Article

References (34)

1. Winchester, B., Vellodi, A. & Young, E. (2000) Biochem. Soc. Trans. 28, 150-154.
2. Rapola, J. (1994) Pathol. Res. Pract. 190, 759-766.
3. Durand, P., Fabrega, S., Henrissat, B., Mornon, J.-P. & Lehn, P. (2000) Hum. Mol. Genet. 9, 967-977.
4. Schiffmann, R. & Brady, R. O. (2002) Drugs 62, 733-742.
5. Bijsterbosch, M. K, Donker, W., van de Bilt, H., van Weely, S., van Berkel, T. J. & Aerts, J. M. (1996) Eur. J. Biochem. 237, 344-349.
6. Beutler, E., Kuhl, W. & Vaughan, L. M. (1995) Mol. Med. 1, 320-324.
7. Berg-Fussman, A., Grace, M. E., Ioannou, Y. & Grabowski, G. A. (1993) J. Biol. Chem. 268, 14861-14866.
8. Morello, J. P., Bouvier, M., Petaja-Repo, U. E. & Bichet, D. G. (2000) Trends Pharmacol. Sci. 21, 466-469.
9. Morello, J.-P., Salahpour, A., Laperriere, A., Bernier, V., Arthus, M.-F., Lonergan, M., Petaja-Repo, U., Angers, S., Morin, D., Bichet, D. G. Bouvier, M. (2000) J. Clin. Invest. 105, 887-895.
10. Petaja-Repo, U. E., Hogue, M., Bhalla, S., Laperriere, A., Morello, J.-P. & Bouvier, M. (2002) EMBO J. 21, 1628-1637.
11. Fan, J.-Q., Ishii, S., Asano, N. & Suzuki, Y. (1999) Nat. Med. 5, 112-115.
12. Asano, N., Ishii, S., Kizu, H., lkeda, K., Yasuda, K., Kato, A., Martin, O. R. & Fan, J.-Q. (2000) Eur. J. Biochem. 267, 4179-4186.
13. Grabowski, G. A. (1993) Adv. Hum. Genet. 21, 377-441.
14. Beutler, E., Nguyen, N. J., Henneberger, M. W., Smolec, J. M., McPherson, R. A., West, C. & Gelbert, T. (1993) Am. J. Hum. Genet. 52, 85-84.
15. Beutler, E., Gelbart, T., Kuhl, W., Zimran, A. & West, C. (1992) Blood 79, 1662-1666.
16. Zhao, H. & Grabowski, G. A. (2002) Cell. Mol. Life Sci. 59, 694-707.
17. Maire, I. (2001) J. Inherited Metab. Dis. 24, 57-61.
18. Beutler, E. & Kuhl, W. (1986) Proc. Natl. Acad. Sci. USA 83, 7472-7474.
19. Grace, M. E., Newman, K. M., Scheinker, V., Berg-Fussman, A. & Grabowski, G. A. (1994) J. Biol. Chem. 269, 2283-2291.
20. Beutler, E. & Gelbart, T. (1993) Br. J. Haematol. 85, 401-405.
21. Beutler, E., Kuhl, W., Trinidad, F., Teplitz, R. & Nadler, H. (1971) Am. J. Hum. Genet. 23, 62-66.
22. Overkleeft, H. S., Renkema, G. H., Neele, J., Vianello, P., Hung, I. O., Strijland, A., Van Der Burg, A. M., Koomen, G.-J., Pandit, U. K. & Aerts, J. M. F. G. (1998) J. Biol. Chem. 273, 26522-26527.
23. Matos, C. R. R., Lopes, R. S. C. & Lopes, C. C. (1999) Synthesis 4, 571-573.
24. Baxter, E. W. & Reitz, A. B. (1994) J. Org. Chem. 59, 3175-3185.
25. Reitz, A. B. & Baxter, E. W. (1990) Tetrahedron Lett. 31, 6777-6780.
26. Wong, C.-H., Provencher, L., Porco, J. A., Jr., Jung, S.-H., Wang, Y.-F., Chen, L., Wang, R. & Steensma, D. H. (1995) J. Org. Chem. 60, 1492-1501.
27. Wang, Y.-F., Takaoka, Y. & Wong, C.-H. (1994)Angew. Chem. Int. Ed. Engl. 33, 1242-1244.
28. Fleet, G. W. J. (1988) Spec. Publ. R. Soc. Chem. 65, 149-162.
29. Butters, T. D., Van den Broek, L. A. G. M., Fleet, G. W. J., Krulle, T. M., Wormald, M. R., Dwek, R. A. & Platt, F. M. (2000) Tetrahedron Asymmetry 11, 113-124.
30. Cox, T., Lachmann, R., Hollak, C., Aerts, J., van Weely, S., Hrebicek, M., Platt, F., Butters, T., Dwek, R., Moyses, C., et al. (2000) Lancet 355, 1481-1485.
31. Platt, F. M., Jeyakumar, M., Andersson, U., Priestman, D. A., Dwek, R. A., Butters, T. D., Cox, T. M., Lachmann, R. H., Hollak, C., Aerts, J. M. F. G., et al. (2001) J. Inherited Metab. Dis. 24, 275-290.
32. Priestman, D. A., Platt, F. M., Dwek, R. A. & Butters, T. D. (2000) Glycobiology 10, iv-vi.
33. Raghavan, S. S., Topol, J. & Kolodny, E. H. (1980) Am. J. Hum. Genet. 32, 158-173.
34. Sears, P. & Wong, C.-H. (1999) Angew. Chem. Int. Ed. 38, 2301-2324.