Additive effects of PS1 and APP mutations on secretion of the 42- residue amyloid β-protein

Neurobiology of Disease

Volumn 5, Issue 2, 1998, Pages 107-116

  Citron, Martin ^a,b   Eckman, Christopher B ^c   Diehl, Thekla S ^a   Corcoran, Chris ^d   Ostaszewski, Beth L ^a   Xia, Weiming ^a   Levesque, Georges ^e   Hyslop, Peter St George ^e   Younkin, Steven G ^c   Selkoe, Dennis J ^a  

^a HARVARD INSTITUTES OF MEDICINE   (United States)

^b AMGEN INC   (United States)

^c MAYO CLINIC   (United States)

^d HARVARD SCHOOL OF PUBLIC HEALTH   (United States)

^e UNIVERSITY OF TORONTO   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

AMYLOID BETA PROTEIN; COMPLEMENTARY DNA; PRESENILIN 1;

ALZHEIMER DISEASE; ARTICLE; DEGENERATIVE DISEASE; GENE MUTATION; GENE OVEREXPRESSION; HUMAN; HUMAN CELL; MISSENSE MUTATION; NEUROLOGIC DISEASE; ONSET AGE; PRIORITY JOURNAL; PROTEIN DEGRADATION; PROTEIN SECRETION;

EID: 0031710159     PISSN: 09699961     EISSN: None     Source Type: Journal    
DOI: 10.1006/nbdi.1998.0183     Document Type: Article

References (29)

1. Alzheimer's Disease Collaborative Group (1995) The structure of the presenilin 1 (S182) gene and identification of six novel mutations in early onset AD families. Nat. Genet. 11, 219-222.
2. Borchelt, D. R., Ratovitski, T., van Lare, J., Lee, M. K., Gonzales, V., Jenkins, N. A., Copeland, N. G., Price, D. L., & Sisodia, S. S. (1997) Accelerated amyloid deposition in the brains of transgenic mice coexpressing mutant presenilin 1 and amyloid precursor proteins. Neuron 19, 939-945.
3. 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., A.I., L., Gandy, S. E., Copeland, N. G., Jenkins, N. A., Price, D. L., Younkin, S. G., & Sisodia, S. S. (1996) Familial Alzheimer's disease-linked presenilin 1 variants elevate As1-42/1-40 ratio in vitro and in vivo. Neuron 17, 1005-1013.
4. Citron, M., Diehl, T. S., Capell, A., Haass, C., Teplow, D. B., & Selkoe, D. J. (1996a) Inhibition of amyloid β-protein production in neural cells by the serine protease inhibitor AEBSF. Neuron 17, 171-179.
5. Citron, M., Diehl, T. S., Gordon, G., Biere, A. L., Seubert, P., & Selkoe, D. J. (1996b) Evidence that Aβ42 and Aβ40 are generated from the β-amyloid precursor protein by different protease activities. Proc. Natl. Acad. Sci. USA 93, 13170-13175.
6. 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., & Selkoe, D. (1997) Mutant presenilins of Alzheimer's disease increase production of 42-residue amyloid β-protein in both transfected cells and transgenic mice. Nat. Med. 3, 67-72.
7. 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., & Younkin, S. G. (1996) Increased amyloid-β42(43) in brains of mice expressing mutant presenilin 1. Nature 383, 710-713.
8. Fox, N. C., Kennedy, A. M., Harvey, R. J., Lantos, P. L., Roques, P. K., Collinge, J., Hardy, J., Hutton, M., Stevens, J. M., Warrington, E. K., & Rossor, M. N. (1997) Clinicopathological features of familial Alzheimer's disease associated with the M139V mutation in the presenilin 1 gene. Brain 120, 491-501.
9. Hardy, J. (1997) Amyloid, the presenilins and Alzheimer's disease. Trends Neurosci. 20, 154-159.
10. Johnson-Wood, K., Lee, M., Motter, R., Hu, K., Gordon, G., Barbour, R., Khan, K., Gordon, M., Tan, H., Games, D., Lieberburg, I., Schenk, D., Seubert, P., & McConlogue, L. (1997) Amyloid precursor protein processing and Aβ42 deposition in a transgenic mouse model of Alzheimer's disease. Proc. Natl. Acad. Sci. USA 94, 1550-1555.
11. Kovacs, D. M., Fausett, H. J., Page, K. J., Kim, T. W., Moir, R. D., Merriam, D. E., Hollister, R. D., Hallmark, O. G., Mancini, R., Felsenstein, K. M., Hyman, B. T., Tanzi, R. E., & Wasco, W. (1996) Alzheimer-associated presenilins 1 and 2: Neuronal expression in brain and localization to intracellular membranes in mammalian cells. Nat. Med. 2, 224-229.
12. Lee, M. K., Borchelt, D. R., Kim, G., Thinakaran, G., Slunt, H., Ratovitski, T., Martin, L. J., Kittur, A., Gandy, S., Levey, A. I., Jenkins, N., Copeland, N., Price, D. L., & Sisodia, S. (1997) Hyperaccumulation of FAD-linked presenilin 1 variants in vivo. Nat. Med. 3, 756-760.
13. Lemere, C. A., Lopera, F., Kosik, K. S., Lendon, C. L., Ossa, J., Saido, T. C., Yamaguchi, H., Ruiz, A., Martinez, A., Madrigal, L., Hincapie, L., Arango, L. J. C., Anthony, D. C., Koo, E. H., Goate, A. M., Selkoe, D. J., & Arango, V. J. C. (1996) The E280A presenilin 1 mutation leads to a distinct Alzheimer's disease phenotype: Increased Aβ42 deposition and severe cerebellar pathology. Nature Med. 2, 1146-1150.
14. Lopera, F., Ardilla, A., Martinez, A., Madrigal, L., Arango-Viana, J. C., Lemere, C. A., Arango-Lasprilla, J. C., Hincapie, L., Arcos-Burgos, M., Ossa, J. E., Behrens, I. M., Norton, J., Lendon, C., Goate, A. M., Ruiz-Linares, A., Rosselli, M., & Kosik, K. S. (1997) Clinical features of early-onset Alzheimer disease in a large kindred with an E280A presenilin-1 mutation. JAMA 277, 793-799.
15. Mehta, N. D., Refolo, L. M., Eckman, C., Sanders, S., Yager, D., PerezTur, J., Younkin, S., Duff, K., Hardy, J., & Hutton, M. (1998) Increased A beta 42(43) from cell lines expressing presenilin 1 mutations. Ann. Neurol. 43, 256-258.
16. Mercken, M., Takahashi, H., Honda, T., Sato, K., Murayama, M., Nakazato, Y., Noguchi, K., Imahori, K., & Takashima, A. (1996) Characterization of human presenilin 1 using N-terminal specific monoclonal antibodies: Evidence that Alzheimer mutations affect proteolytic processing. FEBS Lett. 389, 297-303.
17. Perez-Tur, J., Froehlich, S., Prihar, G., Crook, R., Baker, M., Duff, K., Wragg, M., Busfield, F., Lendon, C., Clark, R. F., Roques, P., Fuldner, R. A., Johnston, J., Cowburn, R., Forsell, C., Axelman, K., Lilius, L., Houlden, H., Karran, E., Roberts, G. W., Rossor, M., Adams, M. D., Hardy, J., Goate, A., Lannfelt, L., & Hutton, M. (1995) A mutation in Alzheimer's disease destroying a splice acceptor site in the presenilin-1 gene. NeuroReport 7, 297-301.
18. 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., & Selkoe, D. J. (1997) Presenilin proteins undergo heterogeneous endoproteolysis between Thr291 and Ala299 and occur as stable N- and C-terminal fragments in normal and Alzheimer brain tissue. Neurobiol. Dis. 3, 325-337.
19. Ratovitski, T., Slunt, H. H., Thinakaran, G., Price, D. L., Sisodia, S. S., & Borchelt, D. R. (1997) Endoproteolytic processing and stabilization of wild-type and mutant presenilin. J. Biol. Chem. 272, 24536-24541.
20. 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., & Younkin, S. G. (1996) Secreted amyloid β-protein similar to that in the senile plaques of Alzheimer's disease is increased in vivo by the presenilin 1 and 2 and APP mutations linked to familial Alzheimer's disease. Nat. Med. 2, 864-870.
21. Seubert, P., Vigo-Pelfrey, C., Esch, F., Lee, M., Dovey, H., Davis, D., Sinha, S., Schlossmacher, M. G., Whaley, J., Swindlehurst, C., McCormack, R., Wolfert, R., Selkoe, D. J., Lieberburg, I., & Schenk, D. (1992) Isolation and quantitation of soluble Alzheimer's β-peptide from biological fluids. Nature 359, 325-327.
22. Sherrington, R., Rogaev, E. I., Liang, Y., Rogaeva, E. A., Levesque, G., Ikeda, M., Chi, H., Lin, C., Li, G., Holman, K., Tsuda, T., Mar, L., Foncin, J.-F., Bruni, A. C., Montesi, M. P., Sorbi, S., Rainero, I., Pinessi, L., Nee, L., Chumakov, Y., Pollen, D. A., Roses, A. D., Fraser, P. E., Rommens, J. M., & St. George-Hyslop, P. H. (1995) Cloning of a novel gene bearing missense mutations in early onset familial Alzheimer disease. Nature 375, 754-760.
23. Suzuki, N., Cheung, T. T., Cai, X.-D., Odaka, A., Otvos Jr, L., Eckman, C., Golde, T. E., & Younkin, S. G. (1994) An increased percentage of long amyloid β protein secreted by familial amyloid β protein precursor (βAPP717) mutants. Science 264, 1336-1340.
24. 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., & Sisodia, S. S. (1996) Endoproteolysis of presenilin 1 and accumulation of processed derviatives in vivo. Neuron 17, 181-190.
25. Thinakaran, G., Harris, C. L., Ratovitski, T., Davenport, F., Slunt, H. H., Price, D. L., Borchelt, D. R., & Sisodia, S. S. (1997) Evidence that levels of presenilins (PS1 and PS2) are coordinately regulated by competition for limiting cellular factors. J. Biol. Chem. 272, 28415-28422.
26. Walter, J., Capell, A., Grünberg, J., Pesold, B., Schindzielorz, A., Prior, R., Podlisny, M. B., Fraser, P., St George-Hyslop, P., Selkoe, D. J., & Haass, C. (1996) The Alzheimer's disease associated presenilins are differentially phosphorylated proteins located predominantly within the endoplasmic reticulum. Mol. Med. 2, 673-691.
27. Xia, W., Zhang, J., Kholodenko, D., Citron, M., Podlisny, M. B., Teplow, D. B., Haass, C., Seubert, P., Koo, E. H., & Selkoe, D. J. (1997) Enhanced production and oligomerization of the 42-residue amyloid β-protein by Chinese hamster ovary cells stably expressing mutant presenilins. J. Biol. Chem. 272, 7977-7982.
28. Younkin, S. G. (1995) Evidence that Aβ42 is the real culprit in Alzheimer's disease. Ann. Neurol. 37, 287-288.
29. Zhang, J., Xia, W., Selkoe, D. J., & Koo, E. H. (1997) Subcellular distribution of presenilin in transfected cells. Soc. Neurosci. Abstr., in press.