The integrity of a cholesterol-binding pocket in Niemann-Pick C2 protein is necessary to control lysosome cholesterol levels

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

Volumn 100, Issue 5, 2003, Pages 2518-2525

  Ko, Dennis C ^a   Binkley, Jonathan ^a   Sidow, Arend ^a   Scott, Matthew P ^a  

^a STANFORD UNIVERSITY   (United States)

Author keywords

Point mutants; Protein evolution; Secretion

Indexed keywords

BINDING PROTEIN; CHOLESTEROL; CHOLESTEROL BINDING PROTEIN; PROTEIN NPC2; UNCLASSIFIED DRUG;

AMINO ACID SEQUENCE; ANIMAL CELL; ARTICLE; BINDING AFFINITY; BINDING SITE; CHO CELL; FIBROBLAST; GENE MUTATION; HUMAN; HUMAN CELL; MOLECULAR EVOLUTION; NIEMANN PICK DISEASE; NONHUMAN; PRIORITY JOURNAL; PROTEIN CONFORMATION; PROTEIN LIPID INTERACTION; STOICHIOMETRY;

AMINO ACID SEQUENCE; AMINO ACIDS; ANIMALS; BINDING SITES; CARRIER PROTEINS; CELLS, CULTURED; CHO CELLS; CHOLESTEROL; CHROMATOGRAPHY, GEL; CRICETINAE; CULTURE MEDIA, CONDITIONED; DNA, COMPLEMENTARY; DOSE-RESPONSE RELATIONSHIP, DRUG; EVOLUTION, MOLECULAR; FIBROBLASTS; FILIPIN; GLYCOPROTEINS; HUMANS; KINETICS; MICE; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTAGENESIS, SITE-DIRECTED; MUTATION; PLASMIDS; PROTEIN BINDING; PROTEIN CONFORMATION; PROTEIN STRUCTURE, TERTIARY; SEQUENCE HOMOLOGY, AMINO ACID; SOFTWARE; TIME FACTORS;

ANIMALIA;

EID: 0344838432     PISSN: 00278424     EISSN: None     Source Type: Journal    
DOI: 10.1073/pnas.0530027100     Document Type: Article

References (28)

1. Patterson, M. C., Vanier, M. F., Suzuki, K., Morris, J. A., Carstea, E. D., Neufeld, E., Blanchette-Mackie, E. J. & Pentchev, P. G. (2001) in The Metabolic and Molecular Bases of Inherited Disease, eds. Scriver, C. R., Beaudet, A. L., Sly, W. S. & Valle, D. (McGraw-Hill, New York), pp. 3611-3633.
2. Liscum, L. & Faust, J. R. (1987) J. Biol. Chem. 262, 17002-17008.
3. Pentchev, P. G., Comly, M. E., Kruth, H. S., Tokoro, T., Butler, J., Sokol, J., Filling-Katz, M., Quirk, J. M., Marshall, D. C., Patel, S., et al. (1987) FASEB J. 1, 40-45.
4. Kobayashi, T., Beuchat, M. H., Lindsay, M., Frias, S., Palmiter, R. D., Sakuraba, H., Parton, R. G. & Gruenberg, J. (1999) Nat. Cell Biol. 1, 113-118.
5. Carstea, E. D., Morris, J. A., Coleman, K. G., Loftus, S. K., Zhang, D., Cummings, C., Gu, J., Rosenfeld, M. A., Pavan, W. J., Krizman, D. B., et al. (1997) Science 277, 228-231.
6. Loftus, S. K., Morris, J. A., Carstea, E. D., Gu, J. Z., Cummings, C., Brown, A., Ellison, J., Ohno, K., Rosenfeld, M. A., Tagle, D. A., et al. (1997) Science 277, 232-235.
7. Naureckiene, S., Sleat, D. E., Lackland, H., Fensom, A., Vanier, M. T., Wattiaux, R., Jadot, M. & Lobel, P. (2000) Science 290, 2298-2301.
8. Millat, G., Chikh, K., Naureckiene, S., Sleat, D. E., Fensom, A. H., Higaki, K., Elleder, M., Lobel, P. & Vanier, M. T. (2001) Am. J. Hum. Genet. 69, 1013-1021.
9. Kirchhoff, C., Osterhoff, C., Habben, I., Ivell, R. & Kirchloff, C. (1990) Int. J. Androl. 13, 155-167.
10. Okamura, N., Kiuchi, S., Tamba, M., Kashima, T., Hiramoto, S., Baba, T., Dacheux, F., Dacheux, J. L., Sugita, Y. & Jin, Y. Z. (1999) Biochim. Biophys. Acta 1438, 377-387.
11. Friedland, N., Liou, H.-L., Lobel, P. & Stock, A. M. (2003) Proc. Natl. Acad. Sci. USA 100, 2512-2517.
12. Cadigan, K. M., Spillane, D. M. & Chang, T. Y. (1990) J. Cell Biol. 110, 295-308.
13. Simon, A. L., Stone, E. A. & Sidow, A. (2002) Proc. Natl. Acad. Sci. USA 99, 2912-2917.
14. Thompson, J. D., Higgins, D. G. & Gibson, T. J. (1994) Nucleic Acids Res. 22, 4673-4680.
15. Friedman, N., Ninio, M., Pe'er, I. & Pupko, T. (2002) J. Comput. Biol. 9, 331-353.
16. Kelley, L. A., MacCallum, R. M. & Sternberg, M. J. (2000) J. Mol. Biol. 299, 499-520.
17. Fischer, D., Barret, C., Bryson, K., Elofsson, A., Godzik, A., Jones, D., Karplus, K. J., Kelley, L. A., MacCallum, R. M., Pawowski, K., et al. (1999) Proteins Suppl. 3, 209-217.
18. Guex, N. & Peitsch, M. C. (1997) Electrophoresis 18, 2714-2723.
19. Lange, Y., Swaisgood, M. H., Ramos, B. V. & Steck, T. L. (1989) J. Biol. Chem. 264, 3786-3793.
20. Lange, Y., Ye, J. & Steck, T. L. (1998) J. Biol. Chem. 273, 18915-18922.
21. Davies, J. P., Chen, F. W. & Ioannou, Y. A. (2000) Science 290, 2295-2298.
22. Rossjohn, J., Feil, S. C., McKinstry, W. J., Tweten, R. K. & Parker, M. W. (1997) Cell 89, 685-692.
23. Tsujishita, Y. & Hurley, J. H. (2000) Nat. Struct. Biol. 7, 408-414.
24. Mueller, G. A., Benjamin, D. C. & Rule, G. S. (1998) Biochemistry 37, 12707-12714.
25. Storch, J. & Thumser, A. E. (2000) Biochim. Biophys. Acta 1486, 28-44.
26. Hurley, J. H. & Misra, S. (2000) Annu. Rev. Biophys. Biomol. Struct. 29, 49-79.
27. Mahuran, D. J. (1998) Biochim. Biophys. Acta 1393, 1-18.
28. Wright, C. S., Li, S. C. & Rastinejad, F. (2000) J. Mol. Biol. 304, 411-422.