Brain Expression of Presenilins in Sporadic and Early-onset, Familial Alzheimer’s Disease

Molecular Medicine

Volumn 6, Issue 10, 2000, Pages 878-891

  Mathews, Paul M ^a   Cataldo, Anne M ^a   Kao, Benjamin H ^a   Rudnicki, Anna G ^a   Qin, Xi ^a   Yang, John L ^a   Jiang, Ying ^a   Picciano, Melanie ^a   Hulette, Christine ^b   Lippa, Carol F ^c   Bird, Thomas D ^d   Nochlin, David ^e   Walter, Jochen ^f   Haass, Christian ^f   Lévesque, Lyne ^g   Fraser, Paul E ^g   Andreadis, Athena ^h   Nixon, Ralph A ^a  

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

^b DUKE UNIVERSITY MEDICAL CENTER   (United States)

^c Medical College of Pennsylvania   (United States)

^d VETERANS AFFAIRS MEDICAL CENTER   (United States)

^e UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^f CENTRAL INSTITUTE OF MENTAL HEALTH   (Germany)

^g UNIVERSITY OF TORONTO   (Canada)

^h HARVARD MEDICAL SCHOOL   (United States)

Author keywords

Amino terminal Antibody; Carboxy terminal Fragment; Endoproteolysis; Presenilin (PS1); PS2 Expression

Indexed keywords

MEMBRANE PROTEIN; PRESENILIN 1; PRESENILIN 2; PSEN1 PROTEIN, HUMAN; PSEN2 PROTEIN, HUMAN;

ALZHEIMER DISEASE; AMINO ACID SEQUENCE; ANIMAL; ARTICLE; BRAIN; CELL LINE; CHEMISTRY; GENETICS; HUMAN; IMMUNOLOGY; METABOLISM; MOLECULAR GENETICS; MOUSE; ONSET AGE; SEQUENCE HOMOLOGY;

AGE OF ONSET; ALZHEIMER DISEASE; AMINO ACID SEQUENCE; ANIMALS; BRAIN; CELL LINE; HUMANS; MEMBRANE PROTEINS; MICE; MOLECULAR SEQUENCE DATA; PRESENILIN-1; PRESENILIN-2; SEQUENCE HOMOLOGY, AMINO ACID;

MLCS; MLOWN;

EID: 0034293631     PISSN: 10761551     EISSN: 15283658     Source Type: Journal    
DOI: 10.1007/BF03401825     Document Type: Article

References (48)

1. E. Levy-Lahad W. Wasco P. Poorkaj et al. Candidate gene for the chromosome 1 familial Alzheimer’s disease locus Science 1995 269 973 977 10.1126/science.7638622 1:CAS:528:DyaK2MXnsFOmtLk%3D 7638622
2. R. Sherrington E.I. Rogaev Y. Liang et al. Cloning of a gene bearing missense mutations in early-onset familial Alzheimer’s disease Nature 1995 375 754 760 10.1038/375754a0 1:CAS:528:DyaK2MXmvVymtbo%3D 7596406
3. E.I. Rogaev R. Sherrington E.A. Rogaeva et al. Familial Alzheimer’s disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer’s disease type 3 gene Nature 1995 376 775 778 10.1038/376775a0 1:CAS:528:DyaK2MXnvFChsL4%3D 7651536
4. J. Busciglio H. Hartmann A. Lorenzo et al. Neuronal localization of presenilin-1 and association with amyloid plaques and neurofibrillary tangles in Alzheimer’s disease J. Neurosci. 1997 17 5101 5107 10.1523/JNEUROSCI.17-13-05101.1997 1:CAS:528:DyaK2sXktVOitbs%3D 9185547
5. G.A. Elder N. Tezapsidis J. Carter et al. Identification and neuron specific expression of the S182/presenilin I protein in human and rodent brains J. Neurosci. Res. 1996 45 308 320 10.1002/(SICI)1097-4547(19960801)45:3<308::AID-JNR13>3.0.CO;2-# 1:CAS:528:DyaK28XkvFGlsb4%3D 8841992
6. J.J. Lah C.J. Heilman N.R. Nash et al. Light and electron microscopic localization of presenilin-1 in primate brain J. Neurosci. 1997 17 1971 1980 10.1523/JNEUROSCI.17-06-01971.1997 1:CAS:528:DyaK2sXhslGgtbc%3D 9045726
7. M.K. Lee H.H. Slunt L.J. Martin et al. Expression of presenilin 1 and 2 (PS1 and PS2) in human and murine tissues J. Neurosci. 1996 16 7513 7525 10.1523/JNEUROSCI.16-23-07513.1996 1:CAS:528:DyaK28XntFKksLg%3D 8922407
8. S. Moussaoui C. Czech L. Pradier et al. Immunohistochemical analysis of presenilin-1 expression in the mouse brain FEBS Lett. 1996 383 219 222 10.1016/0014-5793(96)00250-5 1:CAS:528:DyaK28XitFCitrw%3D 8925899
9. G.M. Murphy L.S. Forno W.G. Ellis et al. Antibodies to presenilin proteins detect neurofibrillary tangles in Alzheimer’s disease Am. J. Pathol. 1996 149 1839 1846 8952521 1865361 1:CAS:528:DyaK2sXjtFOnuw%3D%3D
10. L.L. Weber M.A. Leissring A.J. Yang C.G. Glabe D.H. Cribbs F.M. LaFerla Presenilin-1 immunoreactivity is localized intracellularly in Alzheimer’s disease brain, but not detected in amyloid plaques Exp. Neurol. 1997 143 37 44 10.1006/exnr.1996.6348 1:CAS:528:DyaK2sXhtVSntrk%3D 9000444
11. P. Giannakopoulos C. Bouras E. Kovari et al. Presenilin-1-immunoreactive neurons are preserved in late-onset Alzheimer’s disease Am. J. Pathol. 1997 150 429 436 9033258 1858297 1:CAS:528:DyaK2sXhtlSgsLY%3D
12. A.I. Levey C.J. Heilman J.J. Lah et al. Presenilin-1 protein expression in familial and sporadic Alzheimer’s disease Ann. Neurol. 1997 41 742 753 10.1002/ana.410410610 1:STN:280:DyaK2szjt1yksQ%3D%3D 9189035
13. D.G. Cook J.C. Sung T.E. Golde et al. Expression and analysis of presenilin 1 in a human neuronal system: localization in cell bodies and dendrites Proc. Natl. Acad. Sci. U.S.A. 1996 93 9223 9228 10.1073/pnas.93.17.9223 1:CAS:528:DyaK28Xlt1Cnt7g%3D 8799182 38623
14. B. De Strooper M. Beullens B. Contreras et al. Phosphorylation, subcellular localization, and membrane orientation of the Alzheimer’s disease-associated presenilins J. Biol. Chem. 1997 272 3590 3598 10.1074/jbc.272.6.3590 9013610
15. A. Doan G. Thinakaran D.R. Borchelt et al. Protein topology of presenilin 1 Neuron 1996 17 1023 1030 10.1016/S0896-6273(00)80232-9 1:CAS:528:DyaK28XnsVCru7o%3D 8938133
16. D.M. Kovacs H.J. Fausett K.J. Page et al. Alzheimer-associated presenilins 1 and 2: neuronal expression in brain and localization to intracellular membranes in mammalian cells Nat. Med. 1996 2 224 229 10.1038/nm0296-224 1:CAS:528:DyaK28Xps1yksw%3D%3D 8574969
17. J. Zhang D.E. Kang W. Xia et al. Subcellular distribution and turnover of presenilins in transfected cells J. Biol. Chem. 1998 273 12436 12442 10.1074/jbc.273.20.12436 1:CAS:528:DyaK1cXjtlSgtbg%3D 9575200
18. B. De Strooper W. Annaert P. Cupers et al. A presenilin-1-dependent γ-secretase-like protease mediates release of Notch intracellular domain Nature 1999 398 518 522 10.1038/19083 1:CAS:528:DyaK1MXisFGqt7k%3D 10206645
19. T.W. Kim W.H. Pettingell O.G. Hallmark R.D. Moir W. Wasco R.E. Tanzi Endoproteolytic cleavage and proteasomal degradation of presenilin 2 in transfected cells J. Biol. Chem. 1997 272 11006 11010 10.1074/jbc.272.17.11006 1:CAS:528:DyaK2sXjtVamsb4%3D 9110991
20. M. Mercken H. Takahashi T. Honda et al. Characterization of human presenilin 1 using N-terminal specific monoclonal antibodies: evidence that Alzheimer mutations affect proteolytic processing FEBS Lett. 1996 389 297 303 10.1016/0014-5793(96)00608-4 1:CAS:528:DyaK28XktVOmtLw%3D 8766720
21. M. Seeger C. Nordstedt S. Petanceska et al. Evidence for phosphorylation and oligomeric assembly of presenilin 1 Proc. Natl. Acad. Sci. U.S.A. 1997 94 5090 5094 10.1073/pnas.94.10.5090 1:CAS:528:DyaK2sXjtlejsLc%3D 9144195 24636
22. G. Thinakaran D.R. Borchelt M.K. Lee et al. Endoproteolysis of presenilin 1 and accumulation of processed derivatives in vivo Neuron 1996 17 181 190 10.1016/S0896-6273(00)80291-3 1:CAS:528:DyaK28Xks1eksb8%3D 8755489
23. G. Thinakaran C.L. Harris T. Ratovitski et al. Evidence that levels of presenilins (PS1 and PS2) are coordinately regulated by competition for limiting cellular factors J. Biol. Chem. 1997 272 28415 28422 10.1074/jbc.272.45.28415 1:CAS:528:DyaK2sXntlCqtr0%3D 9353300
24. H. Hartmann J. Busciglio K.H. Baumann M. Staufenbiel B.A. Yankner Developmental regulation of presenilin-1 processing in the brain suggests a role in neuronal differentiation J. Biol. Chem. 1997 272 14505 14508 10.1074/jbc.272.23.14505 1:CAS:528:DyaK2sXjslagsLY%3D 9169406
25. A. Capell R. Saffrich J.C. Olivo et al. Cellular expression and proteolytic processing of presenilin proteins is developmentally regulated during neuronal differentiation J. Neurochem. 1997 69 2432 2440 10.1046/j.1471-4159.1997.69062432.x 1:CAS:528:DyaK2sXntlKltbg%3D 9375676
26. T.W. Kim W.H. Pettingell Y.K. Jung D.M. Kovacs R.E. Tanzi Alternative cleavage of Alzheimer-associated presenilins during apoptosis by a caspase-3 family protease Science 1997 277 373 376 10.1126/science.277.5324.373 1:CAS:528:DyaK2sXkvVels7g%3D 9219695
27. L. Hendriks G. Thinakaran C.L. Harris et al. Processing of presenilin 1 in brains of patients with Alzheimer’s disease and controls Neuroreport 1997 8 1717 1721 10.1097/00001756-199705060-00030 1:STN:280:DyaK2szjtlOqsQ%3D%3D 9189920
28. M.B. Podlisny M. Citron P. Amarante et al. 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. 1997 3 325 337 10.1006/nbdi.1997.0129 1:CAS:528:DyaK2sXjt1ersb0%3D 9173929
29. M. Okochi K. Ishii M. Usami et al. Proteolytic processing of presenilin-1 (PS-1) is not associated with Alzheimer’s disease with or without PS-1 mutations FEBS Lett. 1997 418 162 166 10.1016/S0014-5793(97)01378-1 1:CAS:528:DyaK2sXnsVOqurw%3D 9414118
30. P.M. Mathews J.B. Martinie D.M. Fambrough The pathway and targeting signal for delivery of the integral membrane glycoprotein LEP100 to lysosomes J. Cell Biol. 1992 118 1027 1040 10.1083/jcb.118.5.1027 1:CAS:528:DyaK38XltVyksbs%3D 1512288
31. J. Li J. Ma H. Potter Identification and expression analysis of a potential familial Alzheimer disease gene on chromosome 1 related to AD3 Proc. Natl. Acad. Sci. U.S.A. 1995 92 12180 12184 10.1073/pnas.92.26.12180 1:CAS:528:DyaK28Xhtl2hsQ%3D%3D 8618867 40320
32. S.S. Mirra A. Heyman D. McKeel et al. The consortium to establish a registry for Alzheimer’s disease (CERAD). Part II. Standardization of the neuropathologic assessment of Alzheimer’s disease Neurology 1991 41 479 486 10.1212/WNL.41.4.479 1:STN:280:DyaK3M7oslajsQ%3D%3D 2011243
33. A. Koff A. Giordano D. Desai et al. Formation and activation of a cyclin E-cdk2 complex during the G1 phase of the human cell cycle Science 1992 257 1689 1694 10.1126/science.1388288 1:CAS:528:DyaK3sXlslSisQ%3D%3D 1388288
34. M. Mercken M. Vandermeeren U. Lubke et al. Monoclonal antibodies with selective specificity for Alzheimer Tau are directed against phosphatase-sensitive epitopes Acta Neuropathol. 1992 84 265 272 10.1007/BF00227819 1:STN:280:DyaK3s%2FjsVWrsg%3D%3D 1384266
35. A.M. Cataldo R.A. Nixon Enzymatically active lysosomal proteases are associated with amyloid deposits in Alzheimer brain Proc. Natl. Acad. Sci. U.S.A. 1990 87 3861 3865 10.1073/pnas.87.10.3861 1:CAS:528:DyaK3cXkt1WksLk%3D 1692625 54003
36. T. Ratovitski H.H. Slunt G. Thinakaran D.L. Price S.S. Sisodia D.R. Borchelt Endoproteolytic processing and stabilization of wild-type and mutant presenilin J. Biol. Chem. 1997 272 24536 24541 10.1074/jbc.272.39.24536 1:CAS:528:DyaK2sXmsFamtr0%3D 9305918
37. M. Citron D. Westaway W. Xia et al. Mutant presenilins of Alzheimer’s disease increase production of 42-residue amyloid β-protein in both transfected cells and transgenic mice Nat. Med. 1997 3 67 72 10.1038/nm0197-67 1:CAS:528:DyaK2sXitFOrtg%3D%3D 8986743
38. L. Levesque W. Annaert K. Craessaerts et al. Developmental expression of wild-type and mutant presenilin-1 in hippocampal neurons from transgenic mice: evidence for novel species-specific properties of human presenilin-1 Mol. Med. 1999 8 542 554 10.1007/BF03401981
39. T. Wisniewski W.K. Dowjat J.D. Buxbaum et al. A novel Polish presenilin-1 mutation (P117L) is associated with familial Alzheimer’s disease and leads to death as early as the age of 28 years Neuroreport 1998 9 217 221 10.1097/00001756-199801260-00008 1:CAS:528:DyaK1cXhtFCgtL0%3D 9507958
40. C.A. Lemere J.K. Blusztajn H. Yamaguchi T. Wisniewski T.C. Saido D.J. Selkoe Sequence of deposition of heterogeneous amyloid β-peptides and APO E in Down syndrome: implications for initial events in amyloid plaque formation Neurobiol. Dis. 1996 3 16 32 10.1006/nbdi.1996.0003 1:CAS:528:DyaK28Xis1Kqt7k%3D 9173910
41. D.R. Borchelt G. Thinakaran C.B. Eckman et al. Familial Alzheimer’s disease-linked presenilin 1 variants elevate Aβ 1–42/1–40 ratio in vitro and in vivo Neuron 1996 17 1005 1013 10.1016/S0896-6273(00)80230-5 1:CAS:528:DyaK28XnsVCrtL0%3D 8938131
42. K. Duff C. Eckman C. Zehr et al. Increased amyloid-β42(43) in brains of mice expressing mutant presenilin 1 Nature 1996 383 710 713 10.1038/383710a0 1:CAS:528:DyaK28XmsVGnsrs%3D 8878479
43. M.K. Lee D.R. Borchelt G. Kim et al. Hy-peraccumulation of FAD-linked presenilin 1 variants in vivo Nat. Med. 1997 3 756 760 10.1038/nm0797-756 1:CAS:528:DyaK2sXkt1Kkurc%3D 9212102
44. P. Marambaud C. Alves da Costa K. Ancolio F. Checler Alzheimer’s disease-linked mutation of presenilin 2 (N141I-PS2) drastically lowers APPα secretion: control by the proteasome Biochem. Biophys. Res. Commun. 1998 252 134 138 10.1006/bbrc.1998.9619 1:CAS:528:DyaK1cXnsVKnu7w%3D 9813158
45. P. Marambaud K. Ancolio E. Lopez-Perez F. Checler Proteasome inhibitors prevent the degradation of familial Alzheimer’s disease-linked presenilin 1 and potentiate Aβ42 recovery from human cells Mol. Med. 1998 4 147 157 10.1007/BF03401766 1:CAS:528:DyaK1cXis1WksLY%3D 9562973 2230353
46. T. Honda K. Yasutake N. Nihonmatsu et al. Dual roles of proteasome in the metabolism of presenilin 1 J. Neurochem. 1999 72 255 261 10.1046/j.1471-4159.1999.0720255.x 1:CAS:528:DyaK1MXjtF2k 9886077
47. H. Steiner A. Capell C. Haass Proteolytic processing and degradation of Alzheimer’s disease relevant proteins Biochem. Soc. Trans. 1999 27 234 242 10.1042/bst0270234 1:CAS:528:DyaK1MXhsValu74%3D 10093740
48. P.E. Fraser G. Levesque G. Yu et al. Presenilin 1 is actively degraded by the 26S proteasome Neurobiol. Aging 1998 19 S19 S21 10.1016/S0197-4580(98)00029-3 1:CAS:528:DyaK1cXisFyhtLs%3D 9562462