Presenilins Mutated at Asp-257 or Asp-385 Restore Pen-2 Expression and Nicastrin Glycosylation but Remain Catalytically Inactive in the Absence of Wild Type Presenilin

Journal of Biological Chemistry

Volumn 278, Issue 44, 2003, Pages 43430-43436

  Nyabi, Omar ^a   Bentahir, Mostafa ^a   Horré, Katrien ^a   Herreman, An ^a   Gottardi Littell, Numa ^b   Van Broeckhoven, Christine ^a   Merchiers, Pascal ^c   Spittaels, Kurt ^c   Annaert, Wim ^a   De Strooper, Bart ^a,d  

^a DEPARTMENT OF PLANT SYSTEMS BIOLOGY   (Belgium)

^b NORTHWESTERN UNIVERSITY   (United States)

^c GALAPAGOS NV   (Belgium)

^d Galapagos Genomics NV ^*  (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

BIOLOGICAL MEMBRANES; CATALYSIS; CELLS; ELECTROPHORESIS; ENZYMES; SEPARATION;

PROTEOLYSIS;

BIOCHEMISTRY;

AMYLOID BETA PROTEIN; AMYLOID PRECURSOR PROTEIN; ANTERIOR PHARYNX DEFECTIVE 1 PROTEIN; ASPARTIC ACID; GAMMA SECRETASE; MEMBRANE PROTEIN; NICASTRIN; PROTEIN; PROTEIN PEN2; UNCLASSIFIED DRUG;

AMINO TERMINAL SEQUENCE; ANIMAL CELL; ARTICLE; CARBOXY TERMINAL SEQUENCE; CONTROLLED STUDY; ENZYME ACTIVITY; GLYCOSYLATION; MOUSE; NONHUMAN; PRIORITY JOURNAL; PROTEIN DEGRADATION;

ADENOVIRIDAE; AMYLOID PRECURSOR PROTEIN SECRETASES; ANIMALS; ASPARTIC ACID; CATALYSIS; CELL LINE; CELL MEMBRANE; CELL-FREE SYSTEM; ELECTROPHORESIS, POLYACRYLAMIDE GEL; FIBROBLASTS; GLYCOSYLATION; HUMANS; MEMBRANE GLYCOPROTEINS; MEMBRANE PROTEINS; MICE; MODELS, GENETIC; MUTATION; PRESENILIN-1; PRESENILIN-2; TRANSFECTION;

ANIMALIA;

EID: 0242321947     PISSN: 00219258     EISSN: None     Source Type: Journal    
DOI: 10.1074/jbc.M306957200     Document Type: Article

References (73)

1. Haass, C., and Selkoe, D. J. (1993) Cell 75, 1039-1042
2. Goutte, C., Tsunozaki, M., Hale, V. A., and Priess, J. R. (2002) Proc. Natl. Acad. Sci. U. S. A. 99, 775-779
3. Francis, R., McGrath, G., Zhang, J., Ruddy, D. A., Sym, M., Apfeld, J., Nicoll, M., Maxwell, M., Hai, B., Ellis, M. C., Parks, A. L., Xu, W., Li, J., Gurney, M., Myers, R. L., Himes, C. S., Hiebsch, R., Ruble, C., Nye, J. S., and Curtis, D. (2002) Dev. Cell 3, 85-97
4. Yu, G., Nishimura, M., Arawaka, S., Levitan, D., Zhang, L., Tandon, A., Song, Y. Q., Rogaeva, E., Chen, F., Kawarai, T., Supala, A., Levesque, L., Yu, H., Yang, D. S., Holmes, E., Milman, P., Liang, Y., Zhang, D. M., Xu, D. H., Sato, C., Rogaev, E., Smith, M., Janus, C., Zhang, Y., Aebersold, R., Farrer, L. S., Sorbi, S., Bruni, A., Fraser, P., and St George-Hyslop, P. (2000) Nature 407, 48-54
5. Kimberly, W. T., LaVoie, M. J., Ostaszewski, B. L., Ye, W., Wolfe, M. S., and Selkoe, D. J. (2003) Proc. Natl. Acad. Sci. U. S. A. 100, 6382-6387
6. Takasugi, N., Tomita, T., Hayashi, I., Tsuruoka, M., Niimura, M., Takahashi, Y., Thinakaran, G., and Iwatsubo, T. (2003) Nature 422, 438-441
7. Edbauer, D., Winkler, E., Regula, J. T., Pesold, B., Steiner, H., and Haass, C. (2003) Nat. Cell. Biol. 5, 468-488
8. De Strooper, B. (2003) Neuron 38, 9-12
9. Sherrington, R., Froelich, S., Sorbi, S., Campion, D., Chi, H., Rogaeva, E. A., Levesque, G., Rogaev, E. I., Lin, C., Liang, Y., Ikeda, M., Mar, L., Brice, A., Agid, Y., Percy, M. E., Clerget-Darpoux, F., Piacentini, S., Marcon, G., Nacmias, B., Amaducci, L., Frebourg, T., Lannfelt, L., Rommens, J. M., and St George-Hyslop, P. H. (1996) Hum. Mol. Genet. 5, 985-988
10. Borchelt, D. R., Thinakaran, G., Eckman, C. B., Lee, M. K., Davenport, F., Ratovitsky, T., Prada, C. M., Kim, G., Seekins, S., Yager, D., Slunt, H. H., Wang, R., Seeger, M., Levey, A. I., Gandy, S. E., Copeland, N. G., Jenkins, N. A., Price, D. L., Younkin, S. G., and Sisodia, S. S. (1996) Neuron 17, 1005-1013
11. Duff, K., Eckman, C., Zehr, C., Yu, X., Prada, C. M., Perez-tur, J., Hutton, M., Buee, L., Harigaya, Y., Yager, D., Morgan, D., Gordon, M. N., Holcomb, L., Refolo, L., Zenk, B., Hardy, J., and Younkin, S. (1996) Nature 383, 710-713
12. Scheuner, D., Eckman, C., Jensen, M., Song, X., Citron, M., Suzuki, N., Bird, T. D., Hardy, J., Hutton, M., Kukull, W., Larson, E., Levy-Lahad, E., Viitanen, M., Peskind, E., Poorkaj, P., Schellenberg, G., Tanzi, R., Wasco, W., Lannfelt, L., Selkoe, D., and Younkin, S. (1996) Nat. Med. 2, 864-870
13. Citron, M., Westaway, D., Xia, W., Carlson, G., Diehl, T., 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
14. Shen, J., Bronson, R. T., Chen, D. F., Xia, W., Selkoe, D. J., and Tonegawa, S. (1997) Cell 89, 629-639
15. Wong, P. C., Zheng, H., Chen, H., Becher, M. W., Sirinathsinghji, D. J., Trumbauer, M. E., Chen, H. Y., Price, D. L., Van der Ploeg, L. H., and Sisodia, S. S. (1997) Nature 387, 288-292
16. 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. 96, 11872-11877
17. Donoviel, D. B., Hadjantonakis, A. K., Ikeda, M., Zheng, H., Hyslop, P. S., and Bernstein, A. (1999) Genes Dev. 13, 2801-2810
18. Levitan, D., and Greenwald, I. (1995) Nature 377, 351-354
19. Struhl, G., and Greenwald, I. (1999) Nature 398, 522-525
20. Ye, Y., Lukinova, N., and Fortini, M. E. (1999) Nature 398, 525-529
21. 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
22. 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
23. 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, 518-522
24. Ni, C. Y., Murphy, M. P., Golde, T. E., and Carpenter, G. (2001) Science 294, 2179-2181
25. May, P., Reddy, Y. K., and Herz, J. (2002) J. Biol. Chem. 277, 18736-18743
26. Kim, D. Y., Ingano, L. A., and Kovacs, D. M. (2002) J. Biol. Chem. 277, 49976-49981
27. Lammich, S., Okochi, M., Takeda, M., Kaether, C., Capell, A., Zimmer, A. K., Edbauer, D., Walter, J., Steiner, H., and Haass, C. (2002) J. Biol. Chem. 277, 44754-44759
28. Murakami, D., Okamoto, I., Nagano, O., Kawano, Y., Tomita, T., Iwatsubo, T., De Strooper, B., Yumoto, E., and Saya, H. (2003) Oncogene 22, 1511-1516
29. Marambaud, P., Shioi, J., Serban, G., Georgakopoulos, A., Sarner, S., Nagy, V., Baki, L., Wen, P., Efthimiopoulos, S., Shao, Z., Wisniewski, T., and Robakis, N. K. (2002) EMBO J. 21, 1948-1956
30. Ikeuchi, T., and Sisodia, S. S. (2003) J. Biol. Chem. 278, 7751-7754
31. Struhl, G., and Adachi, A. (2000) Mol. Cell 6, 625-636
32. Hu, Y., Ye, Y., and Fortini, M. E. (2002) Dev. Cell 2, 69-78
33. Goutte, C., Hepler, W., Mickey, K. M., and Priess, J. R. (2000) Development 127, 2481-2492
34. Wolfe, M. S., Xia, W., Ostaszewski, B. L., Diehl, T. S., Kimberly, W. T., and Selkoe, D. J. (1999) Nature 398, 513-517
35. Leem, J. Y., Vijayan, S., Han, P., Cai, D., Machura, M., Lopes, K. O., Veselits, M. L., Xu, H., and Thinakaran, G. (2002) J. Biol. Chem. 24, 19236-19240
36. Kimberly, W. T., LaVoie, M. J., Ostaszewski, B. L., Ye, W., Wolfe, M. S., and Selkoe, D. J. (2002) J. Biol. Chem. 277, 135113-135117
37. Kaether, C., Lammich, S., Edbauer, D., Ertl, M., Rietdorf, J., Capell, A., Steiner, H., and Haass, C. (2002) J. Cell Biol. 158, 551-561
38. Edbauer, D., Winkler, E., Haass, C., and Steiner, H. (2002) Proc. Natl. Acad. Sci. U. S. A. 99, 8666-8671
39. Herreman, A., Van Gassen, G., Bentahir, M., Nyabi, O., Craessaerts, K., Mueller, U., Annaert, W., and De Strooper, B. (2003) J. Cell Sci. 116, 1127-1136
40. Steiner, H., Winkler, E., Edbauer, D., Prokop, S., Basset, G., Yamasaki, A., Kostka, M., and Haass, C. (2002) J. Biol. Chem. 277, 39062-39065
41. Annaert, W. G., Esselens, C., Baert, V., Boeve, C., Snellings, G., Cupers, P., Craessaerts, K., and De Strooper, B. (2001) Neuron 32, 579-589
42. Leem, J. Y., Saura, C. A., Pietrzik, C., Christianson, J., Wanamaker, C., King, L. T., Veselits, M. L., Tomita, T., Gasparini, L., Iwatsubo, T., Xu, H., Green, W. N., Koo, E. H., and Thinakaran, G. (2002) Neurobiol. Dis. 11, 64-82
43. Li, Y. M., Xu, M., Lai, M. T., Huang, Q., Castro, J. L., DiMuzio-Mower, J., Harrison, T., Lellis, C., Nadin, A., Neduvelil, J. G., Register, R. B., Sardana, M. K., Shearman, M. S., Smith, A. L., Shi, X. P., Yin, K. C., Shafer, J. A., and Gardell, S. J. (2000) Nature 405, 689-694
44. Esler, W. P., Kimberly, W. T., Ostaszewski, B. L., Diehl, T. S., Moore, C. L., Tsai, J. Y., Rahmati, T., Xia, W., Selkoe, D. J., and Wolfe, M. S. (2000) Nat. Cell. Biol. 2, 428-434
45. Seiffert, D., Bradley, J. D., Rominger, C. M., Rominger, D. H., Yang, F., Meredith, J. E., Jr., Wang, Q., Roach, A. H., Thompson, L. A., Spitz, S. M., Higaki, J. N., Prakash, S. R., Combs, A. P., Copeland, R. A., Arneric, S. P., Hartig, P. R., Robertson, D. W., Cordell, B., Stern, A. M., Olson, R. E., and Zaczek, R. (2000) J. Biol. Chem. 275, 34086-34091
46. Berezovska, O., Jack, C., McLean, P., Aster, J. C., Hicks, C., Xia, W., Wolfe, M. S., Kimberly, W. T., Weinmaster, G., Selkoe, D. J., and Hyman, B. T. (2000) J. Neurochem. 75, 583-593
47. Kimberly, W. T., Xia, W., Rahmati, T., Wolfe, M. S., and Selkoe, D. J. (2000) J. Biol. Chem. 275, 3173-3178
48. Steiner, H., Duff, K., Capell, A., Romig, H., Grim, M. G., Lincoln, S., Hardy, J., Yu, X., Picciano, M., Fechteler, K., Citron, M., Kopan, R., Pesold, B., Keck, S., Baader, M., Tomita, T., Iwatsubo, T., Baumeister, R., and Haass, C. (1999) J. Biol. Chem. 274, 28669-28673
49. Annaert, W., and De Stroeper, B. (2002) Annu. Rev. Cell Dev. Biol. 18, 25-51
50. Steiner, H., Kostka, M., Romig, H., Basset, G., Pesold, B., Hardy, J., Capell, A., Meyn, L., Grim, M. L., Baumeister, R., Fechteler, K., and Haass, C. (2000) Nat. Cell. Biol. 2, 848-851
51. Ponting, C. P., Hutton, M., Nyborg, A., Baker, M., Jansen, K., and Golde, T. E. (2002) Hum. Mol. Genet. 11, 1037-1044
52. Weihofen, A., Binns, K., Lemberg, M. K., Ashman, K., and Martoglio, B. (2002) Science 296, 2215-2218
53. 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
54. Sisodia, S. S., and St George-Hyslop, P. H. (2002) Nat. Rev. Neurosci. 3, 281-290
55. Capell, A., Steiner, H., Romig, H., Keck, S., Baader, M., Grim, M. G., Baumeister, R., and Haass, C. (2000) Nat. Cell. Biol. 2, 205-211
56. Morihara, T., Katayama, T., Sate, N., Yoneda, T., Manabe, T., Hitomi, J., Abe, H., Imaizumi, K., and Tohyama, M. (2000) Brain Res. Mol. Brain. Res. 85, 85-90
57. Kim, S. H., Leem, J. Y., Lah, J. J., Slunt, H. H., Levey, A. I., Thinakaran, G., and Sisodia, S. S. (2001) J. Biol. Chem. 276, 43343-43350
58. De Strooper, B., and Annaert, W. (2001) Nat. Cell. Biol. 3, E221-E225
59. Nyabi, O., Pype, S., Mercken, M., Herreman, A., Saftig, P., Craessaerts, K., Serneels, L., Annaert, W., and De Strooper, B. (2002) Nat. Cell. Biol. 4, E164-E166
60. Ida, N., Hartmann, T., Pantel, J., Schroder, J., Zerfass, R., Forstl, H., Sandbrink, R., Masters, C. L., and Beyreuther, K. (1996) J. Biol. Chem. 271, 22908-22914
61. Yuan, H., Zhai, P., Anderson, L. M., Pan, J., Thimmapaya, B., Koo, E. H., and Marquez-Sterling, N. R. (1999) J. Neurosci. Methods 88, 45-54
62. Michiels, F., van Es, H., van Rompaey, L., Merchiers, P., Franeken, B., Pittois, K., van der Schueren, J., Brys, R., Vandersmissen, J., Beirinckx, F., Herman, S., Dokic, K., Klaassen, H., Narinx, E., Hagers, A., Laenen, W., Piest, I., Pavliska, H., Rombout, Y., Langemeijer, E., Ma, L., Schipper, C., Raeymaeker, M. D., Schweicher, S., Jans, M., van Beeck, K., Tsang, I. R., van de Stolpe, O., and Tomme, P. (2002) Nat. Biotechnol. 20, 1154-1157
63. Schagger, H., Cramer, W. A., and von Jagow, G. (1994) Anal. Biochem. 217, 220-230
64. Annaert, W. G., Levesque, L., Craessaerts, K., Dierinck, I., Snellings, G., Westaway, D., George-Hyslop, P. S., Cordell, B., Fraser, P., and De Strooper, B. (1999) J. Cell Biol. 147, 277-294
65. De Jonghe, C., Cruts, M., Rogaeva, E. A., Tysoe, C., Singleton, A., Vanderstichele, H., Meschino, W., Dermaut, B., Vanderhoeven, I., Backhovens, H., Vanmechelen, E., Morris, C. M., Hardy, J., Rubinsztein, D. C., St George-Hyslop, P. H., and Van Broeckhoven, C. (1999) Hum. Mol. Genet. 8, 1529-1540
66. Li, Y. M., Lai, M. T., Xu, M., Huang, Q., DiMuzio-Mower, J., Sardana, M. K., Shi, X. P., Yin, K. C., Shafer, J. A., and Gardell, S. J. (2000) Proc. Natl. Acad. Sci. U. S. A 97, 6138-6143
67. Loetscher, H., Deuschle, U., Brockhaus, M., Reinhardt, D., Nelboeck, P., Mous, J., Grunberg, J., Haass, C., and Jacobsen, H. (1997) J. Biol. Chem. 272, 20655-20659
68. Kim, T. W., Pettingell, W. H., Jung, Y. K., Kovacs, D. M., and Tanzi, R. E. (1997) Science 277, 373-376
69. Podlisny, M. B., Citron, M., Amarante, P., Sherrington, R., Xia, W., Zhang, J., Diehl, T., Levesque, G., Fraser, P., Haass, C., Koo, E. H., Seubert, P., St. George-Hyslop, P., Teplow, D. B., and Selkoe, D. J. (1997) Neurobiol. Dis. 3, 325-337
70. Gu, Y., Chen, F., Sanjo, N., Kawarai, T., Hasegawa, H., Duthie, M., Li, W., Ruan, X., Luthra, A., Mount, H. T., Tandon, A., Fraser, P. E., and St George-Hyslep, P. (2003) J. Biol. Chem. 278, 7374-7380
71. Beher, D., Wrigley, J. D., Nadin, A., Evin, G., Masters, C. L., Harrison, T., Castro, J. L., and Shearman, M. S. (2001) J. Biol. Chem. 276, 45394-45402
72. Campbell, W. A., Iskandar, M. K., Reed, M. L., and Xia, W. (2002) Biochemistry 41, 3372-3379
73. Johnston, J. A., Ward, C. L., and Kopito, R. R. (1998) J. Cell Biol. 143, 1883-1898