A loss of function mutation of presenilin-2 interferes with amyloid β- peptide production and Notch signaling

Journal of Biological Chemistry

Volumn 274, Issue 40, 1999, Pages 28669-28673

  Steiner, Harald ^a   Duff, Karen ^b   Capell, Anja ^a   Romig, Helmut ^c   Grim, Melissa G ^d   Lincoln, Sarah ^e   Hardy, John ^e   Yu, Xin ^e   Picciano, Melanie ^b   Fechteler, Katja ^c   Citron, Martin ^f   Kopan, Raphael ^g   Pesold, Brigitte ^a   Keck, Simone ^a   Baader, Miriam ^a   Tomita, Taisuke ^h   Iwatsubo, Takeshi ^h   Baumeister, Ralf ^d   Haass, Christian ^a,i  

^a CENTRAL INSTITUTE OF MENTAL HEALTH   (Germany)

^b NATHAN S KLINE INSTITUTE FOR PSYCHIATRIC RESEARCH   (United States)

^c BOEHRINGER INGELHEIM PHARMA GMBH AND CO KG   (Germany)

^d Genzentrum   (Germany)

^e MAYO CLINIC   (United States)

^f AMGEN INC   (United States)

^g WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^h UNIVERSITY OF TOKYO   (Japan)

ⁱ UNIVERSITY OF MUNICH   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

AMYLOID BETA PROTEIN; CELL ENZYME; PRESENILIN 2;

ALZHEIMER DISEASE; ARTICLE; CONTROLLED STUDY; ENZYME ACTIVITY; GENE LOSS; GENE MUTATION; GENE OVEREXPRESSION; HUMAN; HUMAN CELL; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DEGRADATION; PROTEIN PROCESSING; PROTEIN SECRETION; PROTEIN SYNTHESIS; SIGNAL TRANSDUCTION;

AMYLOID BETA-PROTEIN; ANIMALS; ANIMALS, GENETICALLY MODIFIED; CELL LINE; HUMANS; HYDROLYSIS; MEMBRANE PROTEINS; MICE; MICE, KNOCKOUT; MUTATION; PEPTIDE FRAGMENTS; PRESENILIN-2; RECEPTORS, NOTCH; SIGNAL TRANSDUCTION;

ANIMALIA;

EID: 0033214070     PISSN: 00219258     EISSN: None     Source Type: Journal    
DOI: 10.1074/jbc.274.40.28669     Document Type: Article

References (36)

1. De Strooper, B., Saftig, P., Craessaerts, K., Vanderstichele, H., Guhde, G., Annaert, W., Von Figura, K., and Van Leuven, F. (1998) Nature 391, 387-390
2. Levitan, D., and Greenwald, I. (1995) Nature 377, 351-354
3. Shen, J., Bronson, R. T., Chen, D. F., Xia, W., Selkoe, D. J., and Tonegawa, S. (1997) Cell 89, 629-639
4. Wong, P. C., Zheng, H., Chen, H., Becher, M. W., Sirinathsinghji, D. J. S., Trumbauer, M. E., Chen, H. Y., Price, D. L., Van der Ploeg, L. H. T., and Sisodia, S. S. (1997) Nature 387, 288-292
5. De Strooper, B., Annaert, W., Cupers, P., Saftig, P., Craessaerts, K., Mumm, J. S., Schroeter, E.H., Schrijvers, V., Wolfe, M. S., Ray, W. J., Goate, A., and Kopan, R. (1999) Nature 398, 518-622
6. Levitan, D., Doyle, T., Brousseau, D., Lee, M., Thinakaran, G., Slunt, H., Sisodia, S., and Greenwald, I. (1996) Proc. Natl. Acad. Sci. U. S. A. 93, 14940-14944
7. Baumeister, R., Leimer, U., Zweckbronner, I., Jakubek, C., Grünberg, J., and Haass, C. (1997) Genes Funct. 1, 149-159
8. Ye, Y., Lukinova, N., and Fortini, M. (1999) Nature 398, 525-529
9. Struhl, G., and Greenwald, I. (1999) Nature 398, 522-525
10. Wolfe, M. S., Xia, W., Ostaszewski, B. L., Diehl, T. S., Kimberly, W. T., and Selkoe, D. J. (1999) Nature 398, 513-517
11. Selkoe, D. J. (1996) J. Biol. Chem. 271, 18295-18298
12. Hutton, M., and Hardy, J. (1997) Hum. Mol. Genet. 6, 1639-1646
13. Citron, M., Oltersdorf, T., Haass, C., McConlogue, A. Y., Seubert, P., Vigo-Pelfrey, C., Lieberburg, I., and Selkoe, D. J. (1992) Nature 360, 672-674
14. Citron, M., Westaway, D., Xia, W., Carlson, G., Diehl, T. S., Levesque, G., Johnson-Wood, K., Lee, M., Seubert, P., Davis, A., Kholodenko, D., Motter, R., Sherrington, R., Perry, B., Yao, H., Strome, R., Lieberburg, I., Rommens, J., Kim, S., Schenk, D., Fraser, P., St. George-Hyslop, P., and Selkoe, D. J. (1997) Nat. Med. 3, 67-72
15. Levy-Lahad, E., Wasco, W., Poorkaj, P., Romano, D. M., Oshima, J., Pettingell, W. H., Yu, C., Jondro, P. D., Schmidt, S. D., Wang, K., Crowley, A. C., Fu, Y.-H., Guenette, S. Y., Galas, D., Nemens, E., Wijsman, E. M., Bird, T. D., Schellenberg, G. D., and Tanzi, R. E. (1995) Science 269, 973-977
16. Rogaev, E. I., Sherrington, R., Rogaeva, E. A., Levesque, G., Ikeda, M., Liang, Y., Chi, H., Lin, C., Holamn, K., Tsuda, T., Mar, L., Sorbi, S., Nacmias, B., Piacentini, S., Amaducci, L., Chumakkov, I., Cohen, D., Lannfelt, L., Fraser, P. E., Rommens, J. M., and St. George-Hyslop, P. H. (1995) Nature 376, 775-778
17. Steiner, H., Romig, H., Grim, M. G., Philipp, U., Pesold, B., Citron, M., Baumeister, R., and Haass, C. (1999) J. Biol. Chem. 274, 7615-7618
18. Walter, J., Grünberg, J., Capell, A., Pesold, B., Schindzielorz, A., Citron, M., Mendla, K., St. George-Hyslop, P., Multhaup, G., Selkoe, D. J., and Haass, C. (1997) Proc. Natl. Acad. Sci. U. S. A. 94, 5349-5354
19. Walter, J., Grünberg, J., Schindzielorz, A., and Haass, C. (1998) Biochemistry 37, 5961-5967
20. Steiner, H., Capell, A., Pesold, B., Citron, M., Kloetzel, P.-M., Selkoe, D., Romig, H., Mendla, K., and Haass, C. (1998) J. Biol. Chem. 273, 32322-32331
21. Wild-Bode, C., Yamazaki, T., Capell, A., Leimer, U., Steiner, H., Ihara, Y., and Haass, C. (1997) J. Biol. Chem. 272, 16085-16088
22. Podlisny, M. B., Tolan, D., and Selkoe, D. J. (1991) Am. J. Pathol. 138, 1423-1435
23. Schroeter, E. H., Kisslinger, J. A., and Kopan, R. (1998) Nature 393, 382-386
24. Naruse, S., Thinakaran, G., Luo, J.J., Kusiak, J. W., Tomita, T., Iwatsubo, T., Qian, X., Ginty, D. D., Price, D. L., Borchelt, D. R., Wong, P. C., and Sisodia, S. S. (1998) Neuron 21, 1213-1221
25. Lee, K. L., Slunt, H. H., Martin, L. J., Thinakaran, G., Kim, G., Gandy, S. E., Seeger, M., Koo, E , Price, D. L., and Sisodia, S. S. (1996) J. Neurosci. 16, 7513-7525
26. Tomita, T., Maruyama, K., Saido, T. C., Kume, H., Shinozaki, K., Tokuhiro, S., Capell, A., Walter, J., Grünberg, J., Haass, C., Iwatsubo, T., and Obata, K. (1997) Proc. Natl. Acad. Sci. 94, 2025-2030
27. Thinakaran, G., Borchelt, D. R., Lee, M. K., Slunt, H. H., Spitzer, L., Kim, G., Ratovitsky, T., Davenport, F., Nordstedt, C., Seeger, M., Hardy, J., Levey, A. I., Gandy, S. E., Jenkins, N. A., Copeland, N. G., Price, D. L., and Sisodia, S. S. (1996) Neuron 17, 181-190
28. Thinakaran, G., Harris, C. L., Ratovitski, T., Davenport, F., Slunt, H. H., Price, D. L., Borchelt, D. R., and Sisodia, S. S. (1997) J. Biol. Chem. 272, 28415-28422
29. Kim, T.-W., Pettingell, W., Hallmark, O., Moir, R., Wasco, W., and Tanzi, R. (1997) J. Biol. Chem. 272, 11006-11010
30. Grünberg, J., Walter, J., Eckmann, C., Capell, A., Schindzielorz, A., Younkin, S., Mehta, N., Hardy, J., and Haass, C. (1998) Neuroreport 9, 3293-3299
31. Struhl, G., and Adachi, A. (1998) Cell 93, 649-660
32. Song, W., Nadeau, P., Yuan, M., Yang, X., Shen, J., and Yankner, B. A. (1999) Proc. Natl. Acad. Sci. U. S. A. 96, 6959-6963
33. Westlund, B., Parry, D., Clover, R., Basson, M., and Johnson, C. D. (1999) Proc. Natl. Acad. Sci. U. S. A. 96, 2497-2502
34. Wolozin, B., Iwasaki, K., Vito, P., Ganjei, J. K., Lacana, E., Sunderland, T., Zhao, B., Kusiak, J. W., Wasco, W., and D'Adamio, L. (1996) Science 274, 1710-1713
35. Walter, J., Schindzielorz, A., Grünberg, J., and Haass, C. (1999) Proc. Acad. Sci. U. S. A. 96, 1391-1396.
36. Herreman, A., Hartmann, D., Annaert, W., Saftig, P., Craessaerts, K., Serneels, L., Umans. L., Schrijvers, V., Checler, F., Vanderstichele, H., Baekelandt, V., Dressel, R., Cupers, P., Huylebroeck, D., Zwijsen, A., Van Leuven, F., and De Strooper, B. (1999) Proc. Natl. Acad. Sci. U. S. A., in press