Presenilin 1 cleavage is a universal event in human organs

Neurobiology of Aging

Volumn 19, Issue SUPPL. 1, 1998, Pages

  Okochi, M ^a   Sahara, N ^a   Kametani, F ^a   Usami, M ^a   Arai, T ^a   Tanaka, K ^a   Ishii, K ^a   Yamamoto, A ^a   Mori, H ^a  

^a TOKYO METROPOLITAN INSTITUTE OF MEDICAL SCIENCE   (Japan)

Author keywords

Alzheimer's disease; Chromosome 14; Cleavage; ELISA; Presenilin 1; Processing

Indexed keywords

ANTIBODY; PRESENILIN 1;

ALZHEIMER DISEASE; BRAIN; BRAIN CORTEX; CHROMOSOME 14; CONFERENCE PAPER; CONTROLLED STUDY; ENZYME LINKED IMMUNOSORBENT ASSAY; HUMAN TISSUE; IMMUNOPRECIPITATION; LUNG; NONHUMAN; PANCREAS; PRIORITY JOURNAL; PROTEIN DEGRADATION; PROTEIN PROCESSING; SPLEEN;

ALZHEIMER DISEASE; AMINO ACID SEQUENCE; ANTIBODIES, MONOCLONAL; ANTIBODY SPECIFICITY; BLOTTING, WESTERN; BRAIN; BRAIN CHEMISTRY; CELL LINE; CEREBRAL CORTEX; ENZYME-LINKED IMMUNOSORBENT ASSAY; HUMANS; MEMBRANE PROTEINS; MOLECULAR SEQUENCE DATA; PEPTIDE FRAGMENTS; PRECIPITIN TESTS; PRESENILIN-1;

EID: 0031969696     PISSN: 01974580     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0197-4580(98)00045-1     Document Type: Conference Paper

References (34)

1. The structure of the presenilin 1 (S182) gene and identification of six novel mutations in early onset AD families. Nature Genet. 11:1995;219-222.
2. Berezovska O., Xia M., Page K., Wasco W., Tanzi R. E., Hyman B. T. Developmental regulation of presenilin mRNA expression parallels Notch expression. J. Neuropathol. Neurol. 56:1997;40-44.
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., Levey A. I., Gandy S. E., Copeland N. G., Jenkins N. A., Price D. L., Younkin S. G., Sisodia S. S. Familial Alzheimer's disease-linked presenilin 1 variants elevate Aβ 1-42/1-40 ratio in vitro and in vivo. Neuron. 17:1996;1005-1013.
4. 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. J. Mutant presenilins of Alzheimer's disease increase production of 42-residue amyloid β-protein in both transfected cells and transgenic mice. Nature Med. 3:1997;67-72.
5. Cook D. G., Sung J. C., Golde T. E., Felsenstein K. M., Wojczyk B. S., Tanzi R. E., Trojanowski J. Q., Lee V. M., Doms R. W. Expression and analysis of presenilin 1 in a human neuronal system Localization in cell bodies and dendrites . Proc. Natl. Acad. Sci. USA. 93:1996;9223-9228.
6. Doan A., Thinakaran G., Borchelt D. R., Slunt H. H., Ratovitsky T., Podlisny M., Selkoe D. J., Seeger M., Gandy S. E., Price D. L., Sisodia S. S. Protein topology of presenilin 1. Neuron. 17:1996;1023-1030.
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. Increased amyloid-β42 (43) in brains of mice expressing mutant presenilin 1. Nature. 383:1996;710-713.
8. 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. Alzheimer-associated presenilins 1 and 2 Neuronal expression in brain and localization to intracellular membranes in mammalian cells . Nature Med. 2:1996;224-229.
9. Ishii K., Tamaoka A., Mizusawa H., Shoji S., Ohtake T., Fraser P. E., Takahashi H., Tsuji S., Gearing M., Mizutani T., Yamada S., Kato M., St. George-Hyslop P. H., Mirra S. S., Mori H. Aβ1-40 but not Aβ1-42 levels in cortex correlate with apolipoprotein E4 allele dosage in sporadic Alzheimer's disease. Brain Res. 748:1997;250-252.
10. Lah J. J., Heilman C. J., Nash N. R., Rees H. D., Yi H., Counts S. E., Levey A. I. Light and electron microscopic localization of presenilin 1 in primate brain. J. Neurosci. 17:1997;1971-1980.
11. Lee M. K., Slunt H. H., Martin L. J., Thinakaran G., Kim G., Gandy S. E., Seeger M., Koo E., Price D. L., Sisodia S. S. Expression of presenilin 1 and 2 (PS1 and PS2) in human and murine tisues. J. Neurosci. 16:1996;7513-7525.
12. 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 J. C., Anthony D. C., Koo E. H., Goate A. M., Selkoe D. J., Arango J. C. The E280A presenilin 1 Alzheimer mutation produces increased Aβ 42 deposition and severe cerebellar pathology. Nature Med. 2:1996;1146-1150.
13. Levitan D., Greenwald I. Facilitation of lin-12-mediated signalling by sel-12, a Caenorhabditis elegance S182 Alzheimer's disease. Nature. 377:1995;351-354.
14. Levitan D., Doyle T. G., Brousseau D., Lee M. K., Thinakaran G., Slunt H. H., Sisodia S. S., Greenwald I. Assessment of normal and mutant human presenilin function in Caenorhabditis elegans. Proc. Natl. Acad. Sci. USA. 93:1996;14940-14944.
15. Li X., Greenwald I. Membrane topology of the C. elegans SEL-12 presenilin. Neuron. 17:1996;1015-1021.
16. Martins R. N., Turner B. A., Carroll R. T., Sweeney D., Kim K. S., Wisniewski H. M., Blass J. P., Gibson G. E., Gandy S. High levels of amyloid-β protein from S182 (Glu246) familial Alzheimer's cells. Neuroreport. 7:1995;217-220.
17. Mercken M., Takahashi H., Honda T., Sato K., Murayama M., Nakazato Y., Noguchi K., Imahori K., Takashima A. Characterization of human presenilin 1 using N-terminal specific monoclonal antibodies Evidence that Alzheimer mutations affect proteolytic processing . FEBS Lett. 389:1996;297-303.
18. Motoyama N., Miwa T., Suzuki Y., Okada H., Azuma T. Comparison of somatic mutation frequency among immunoglobulin genes. J. Exp. Med. 179:1994;395-403.
19. Okochi M., Ishii K., Usami M., Sahara N., Kametani F., Tanaka K., Fraser P. E., Ikeda M., Saunders A. M., Hendriks L., Shoji S., Nee L. E., Martin J.-J., Van Broeckhoven C., St. George-Hyslop P. H., Roses A. D., Mori H. Proteolytic processing of presenilin-1 (PS-1) is not associated with Alzheimer disease with or without PS-1 mutations. FEBS Lett. 418:1997;162-166.
20. Okochi, M.; Usami, M.; Sahara, N.; Kametani, F.; Ishii, K.; Tanaka, K.; Tamaoka, A.; Nakamura, T.; Fraser, P. E.; Saunders, A. M.; Hendriks, L.; Shoji, S.; Nee, L. E.; Pollen, D.; Martin, J.-J.; Van Broeckhoven, C.; Roses, A. D.; St. George-Hyslop, P. H.; Kosik, K. S.; Takashima, S.; Mori, H. Mutated and non-mutated presenilin 1 (PS1) is highy expressed in fetal brain and in Alzheimer's disease brain. (submitted).
21. Perez-Tur J., Froelich S., Prihar G., Crook R., Baker M., Duff K., Wragg M., Busfield F., Lendon C., Clark R. F., Roques P., Fuldner R. A., Johnson J., Cowburn R., Forsell C., Axelman K., Lilius L., Houlden H., Karran E., Roberts G. W., Rossoe M., Adams M. D., Hardy J., Goate A., Lannfelt L., Hutton M. A mutation in Alzheimer's disease destroying a splicing acceptor site in the presenilin-1 gene. Neuroreport. 7:1995;297-301.
22. Podlisny M. B., Citron M., Amarante P., Sherrington R., Xia W., Zhang J., Diehl T., Levesque G., Fraser P., Haass C., Koo E. H. M., Seubert P., St. George-Hyslop P., Teplow D. B., Selkoe D. J. 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. Disease. 1:1997;1-13.
23. Sahara N., Yahagi Y., Takagi H., Kondo T., Okochi M., Usami M., Shirasawa T., Mori H. Identification and characterization of presenilin I-467, I-463 and I-374. FEBS Lett. 381:1996;7-11.
24. Sato, S.; Kamino, K.; Miki, T.; Doi, A.; Ii, K.; St. George-Hyslop, P. E.; Ogiwara, T.; Sakaki, Y. Splicing mutation of presenilin 1 gene for early-onset familial Alzheimer's disease. Hum. Mutat. in press.
25. 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. 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. Nature Med. 2:1996;864-870.
26. Shen J., Bronson R. T., Chen D. F., Xia W., Selkoe D. J., Tonegawa S. Skeletal and CNS defects in Presenilin-1-deficient mice. Cell. 89:1997;629-639.
27. 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 I., Pollen D., Brookes A., Sanseau P., Polinski R. J., Wasco W., Da Silva H. A. R., Haines J. L., Pericak-Vance M. A., Tanzi R. E., Roses A. D., Fraser P. E., Rommens J. M., St George-Hyslop P. H. Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease. Nature. 375:1995;754-760.
28. Suzuki N., Cheung T. T., Cai X-D., Odaka A., Otvos L. Jr, Eckman C., Golde T. E., Younkin S. G. An increased percentage of long amyloid β protein secreted by familial amyloid β protein precursor (βAPP717) mutants. Science. 264:1994;1336-1340.
29. Takahashi H., Murayama M., Takashima A., Mercken M., Nakazato Y., Noguchi K., Imahori K. Molecular cloning and expression of the rat homolog of presenilin-1. Neurosci. Lett. 206:1996;113-116.
30. Tamaoka A., Odaka A., Ishibashi Y., Usami M., Sahara N., Suzuki N., Nukina N., Mizusawa H., Shoji S., Kanazawa I., Mori H. APP717 missense mutation affects the ratio of amyloid beta protein species (Aβ 1-42/43 and Aβ 1-40) in familial Alzheimer's disease brain. J. Biol. Chem. 269:1994;32721-32724.
31. 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. Endoproteolysis of presenilin 1 and accumulation of processed derivatives in vivo. Neuron. 17:1996;181-190.
32. Walter J., Capell A., Grunberg J., Pesold B., Schindzielorz A., Prior R., Podlisny M. B., Fraser P., Hyslop P. S., Selkoe D. J., Haass C. The Alzheimer's disease-associated presenilins are differentially phosphorylated proteins located predominantly within the endoplasmic reticulum. Mol. Med. 2:1996;673-691.
33. 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., Sisodia S. S. Presenilin 1 is required for Notch 1 and Dll1 expression in the paraxial mesoderm. Nature. 387:1997;288-292.
34. Yamamoto A., Sahara N., Usami M., Okochi M., Kondo T., Kametani F., Tanaka K., Yahagi Y., Shirasawa T., Itoyama Y., Mori H. Abnormal gel-electrophoretic behavior of presenilin 1 and its fragment. Biochem. Biophys. Res. Commun. 226:1996;536-541.