Presenilin-1 is associated with Alzheimer's disease amyloid

American Journal of Pathology

Volumn 151, Issue 2, 1997, Pages 601-610

  Wisniewski, Thomas ^a,b   Dowjat, Wieslaw K ^a   Permanne, Bruno ^a   Palha, Joana ^a   Kumar, Asok ^a   Gallo, Gloria ^a   Frangione, Bias ^a  

^a NEW YORK UNIVERSITY MEDICAL CENTER   (United States)

^b NEW YORK UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AMYLOID BETA PROTEIN; MEMBRANE PROTEIN; PRESENILIN 1;

ADULT; AGED; ALZHEIMER DISEASE; AMINO ACID SEQUENCE; AMYLOIDOSIS; ARTICLE; CARBOXY TERMINAL SEQUENCE; CLINICAL ARTICLE; CONTROLLED STUDY; HUMAN; HUMAN TISSUE; PRIORITY JOURNAL; PROTEIN EXPRESSION; SENILE PLAQUE;

ADULT; AGED; ALZHEIMER DISEASE; AMYLOID BETA-PROTEIN; BLOTTING, WESTERN; BRAIN; EPITOPES; HUMANS; IMMUNOHISTOCHEMISTRY; MEMBRANE PROTEINS; MICROSCOPY, ELECTRON; MIDDLE AGED; PRESENILIN-1;

EID: 0030789895     PISSN: 00029440     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (48)

1. Wisniewski T, Frangione B: Molecular biology of brain aging and neurodegenerative disorders. Acta Neurobiol Exp 1996, 56:267-279
2. Goate A, Chartier-Harlin M-C, Mullan M, Brown J, Crawford F, Fidani L, Giuffra L, Haynes A, Irving N, James L, Mant R, Newton P, Rooke K, Roques P, Talbot C, Pericak-Vance M, Roses A, Williamson R, Rossor M, Owen M, Hardy J: Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease. Nature 1991, 349:704-706
3. Levy E, Carman MD, Fernandez-Madrid I, Lieberburg I, Power MD, vanDuinen SG, Bots GTAM, Luyendijk W, Frangione B: Mutation of the Alzheimer's disease amyloid gene in hereditary cerebral hemorrhage, Dutch type. Science 1990, 248:1124-1126
4. Sherrington R, Rogaev EI, Liang Y, Rogaeva EA, Levesques G, Ikeda M, Chi H, Lin C, Li G, Holman K, Tsuda T, Mar L, Foncin JF, Bruni AC, Montesi MP, Sorbi S, Rainero I, Pinessi L, Nee L, Chumakov I, Pollen D, Brookes A, Sanseau P, Polinsky RJ, Wasco W, DaSilva HAR, Haines JL, Pericak-Vance MA, Tanzi RE, Roses AD, Fraser PE, Rommens JM, St George-Hyslop P: Cloning of a gene bearing missense mutations in early onset familial Alzheimer's disease, Nature 1995, 375:754-760
5. Levy-Lahad E, Wasco W, Poorkaj P, Romano DM, Oshima J, Pettingell WH, Chang-en Y, Jondro PD, Schmidt SD, Wang K, Crowley AC, Fu YH, Guenette SY, Galas D, Nemens E, Wijsman EM, Bird TD, Schellenberg GD, Tanzi RE: Candidate gene for the chromosome 1 familial Alzheimer's disease locus. Science 1995, 269:973-977
6. Rogaev E, Sherrington R, Rogaeva EA, Levesques G, Ikeda M, Liang Y, Chi H, Lin C, Holman K, Tsuda T, Mar L, Sorbi S, Nacmias B, Placentini S, Amaducci L, Chumakov I, Cohen D, Lannfelt L, Fraser PE, Rommens JM, St George-Hyslop P: 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
7. Tanzi RE, Kovacs D, Kim T, Moir RD, Guenette SY, Wasco W: The gene defects responsible for familial Alzheimer's disease, Neurobiol Dis 1996, 3:159-168
8. Kwok JBJ, Taddel K, Hallupp M, Fisher C, Brooks WS, Broe GA, Hardy J, Fulham MJ, Nicholson GA, Stell R, St George Hyslop P, Fraser P, Kakulas BA, Clarnette R, Relkin NR, Gandy SE, Schofield P, Martins RN: Two novel (M233T and R278T) presenilin-1 mutations in early-onset Alzheimer's disease pedigrees and preliminary evidence for association of presenilin-1 mutations with a novel phenotype. Neuroreport 1997 (in press)
9. Cribbs DH, Chen LS, Sende SM, LaFerla FM: Widespread neuronal expression of the presenilin-1 early-onset Alzheimer's disease gene in the murine brain. Am J Pathol 1996, 148:1797-1806
10. Kovacs D, Fausett HJ, Page KJ, Kim T, Moir RD, Merriam DE, Hollister R, Hallmark OG, Mancini R, Felsenstein KM, Human BT, Tanzi R, Wasco W: Alzheimer associated presenilin 1 and 2: neuronal expression in brain and localization to intracellular membranes in mammalian cells. Nature Med 1996, 2:224-229
11. Uchihara T, Hamid HK, Duyckaerts C, Jean-Francois F, Fraser PE, Levesque L, St George Hyslop P, Jean-Jacques H: Widespread immunoreactivity of presenilin in neurons of normal and Alzheimer's disease brains: double-labeling immunohistochemical study. Acta Neuropathol 1996, 92:325-330
12. Giannakopoulos P, Bouras C, Kovari E, Shioi J, Tezapsidis N, Hof PR, Robakis NK: Presenilin-1 immunoreactive neurons are preserved in late-onset Alzheimer's disease. Am J Pathol 1997, 150:429-436
13. Elder GA, Tezapsidis N, Carter J, Shioi J, Bouras C, Li HC, Johnson JM, Efthimiopoulos S, Friedrich VL, Robakis NK: Identification and neuron specific expression of the S182/presenilin I protein in human and rodent brains. J Neurosci Res 1996, 45:308-320
14. Weber LL, Leissring MA, Yang AJ, Glabe CG, Cribbs DH, LaFerla FM: Presenilin-1 immunoreactivity is localized intracellularly in Alzheimer's disease brain, but not detected in amyloid plaques. Exp Neurol 1997, 143:37-44
15. Thinakaran G, Borchelt DR, Lee M, Slunt HH, Spitzer L, Kim G. Ratovitsky T, Davenport F, Nordstedt C. Seeger M, Hardy J, Levey AI, Gandy SE, Jenkins NA, Copeland NG, Price DL, Sisodia SS: Endoproteolysis of presenilin 1 and accumulation of processed derivatives in vivo. Neuron 1996, 17:181-190
16. Wisniewski T, Palha JA, Ghiso J, Frangione B: S182 protein in Alzheimer's disease neuritic plaques. Lancet 1995, 346:1366
17. Bouras C, Giannakopoulos P, Schioi J, Tezapsidis N, Robakis NK: Presenilin-1 polymorphism and Alzheimer's disease. Lancet 1996, 347:1185-1186
18. Murphy GM Jr, Forno LS, Ellis WG, Nochlin D, Levy-Lahad E, Poorkaj P, Bird TD, Jiang ZL, Cordell B: Antibodies to presenilin proteins detect neurofibrillary tangles in Alzheimer's disease. Am J Pathol 1996, 149:1839-1846
19. Timmers WF, Tagliavini F, Haan J, Frangione B: Parenchymal preamyloid and amyloid deposits in the brains of patients with hereditary cerebral hemorrhage with amyloidosis Dutch type, Neurosci Lett 1990, 118:223-226
20. Vidal RG, Garzuly F, Budka H, Lalowski M, Linke RP, Brittig F, Frangione B, Wisniewski T: Meningocerebrovascular amyloidosis associated with a novel transthyretin (TTR) missense mutation at codon 18 (TTRD18G). Am J Pathol 1996, 148:361-366
21. Ghiso J, Jensson O, Frangione B: Amyloid fibrils in hereditary cerebral hemorrhage with amyloidosis of Icelandic type is a variant of γ-trace basic protein (cystatin C). Proc Natl Acad Sci USA 1986, 83:2974-2978
22. Haltia M, Ghiso J, Wisniewski T, Kiuru S, Miller D, Frangione B: Gelsolln variant and β-amyloid co-occur in a case of Alzheimer's with Lewy bodies. Neurobiol Aging 1991, 12:313-316
23. Kim KS, Miller DL, Sapienza VJ, Chen CMJ, Bai C, Grundke-lqbal I, Currie J, Wisniewski HM: Production and characterization of monoclonal antibodies reactive to synthetic cerebrovascular amyloid peptide. Neurosci Res Commun 1988, 2:121-130
24. Tagliavini F, Giaccone G, Frangione B, Bugiani O: Preamyloid deposits in the cerebral cortex of patients with Alzheimer's disease and nondemented individuals. Neurosci Lett 1988, 93:191-196
25. Phend KD, Weinberg RJ, Rustioni A: Techniques to optimize post-embedding single and double staining for amino acid neurotransmitters. J Histochem Cytochem 1992, 40:1011-1020
26. Lalowski M, Golabek AA, Lemere CA, Selkoe DJ, Wisniewski HM, Beavis RC, Frangione B, Wisniewski T. The "non-amyloidogenic" p3 fragment (Aβ17-42) is a major constituent of Down syndrome cerebellar preamyloid. J Biol Chem 1996, 271:33623-33631
27. 299 and occur as stable N- and C-terminal fragments in normal and Alzheimer brain tissue, Neurobiol Dis 1997, 3:325-337
28. Eikelenboom P, Stam FC: Immunoglobulins and complement factors in senile plaques. Acta Neuropathol 1982, 57:239-242
29. Coria F, Castafio EM, Prelli F, Larrondo-Lillo M, vanDuinen S, Shelanski ML, Frangione B: Isolation and characterization of amyloid P component from Alzheimer's disease and other types of cerebral amyloidosis. Lab Invest 1988, 58:454-457
30. Snow AD, Willner J, Kisilevsky R: Sulphated glycosaminoglycans: a common constituent of all amyloid? Lab Invest 1987, 56:120-124
31. Ghiso J, Wisniewski T, Frangione B: Unifying features of systemic and cerebral amyloidosis. Mol Neurobiol 1994, 8:49-64
32. Wisniewski T, Lalowski M, Baumann M, Rauvala H, Raulo E, Nolo R, Frangione B: HB-GAM is a cytokine present in Alzheimer's and Down's syndrome lesions. Neuroreport 1996, 7:667-671
33. Abraham CR, Selkoe DJ, Potter H: Immunochemical identification of the serine protease inhibitor al-antichymotrypsin in the brain amyloid deposits of Alzheimer's disease. Cell 1988, 52:487-501
34. Wisniewski T, Lalowski M, Golabek AA, Vogel T, Frangione B: Is Alzheimer's disease an apolipoprotein E amyloidosis? Lancet 1995, 345:956-958
35. Naslund J, Thyberg J, Tjernberg LO, Wernstedt C, Karlstrom AR, Bogdanovic N, Gandy SE, Lannfelt L, Terenius L, Nordstedt C: Characterization of stable complexes involving apolipoprotein E and the amyloid βpeptide in Alzheimer's disease brain, Neuron 1995, 15: 219-228
36. Maury CPJ, Nurmiaho-Lassila EL, Liljeström M: Alzheimer's disease-associated presenilin 1 and 2: accelerated amyloid fibril formation of mutant 410 Cys→Tyr and 141 Asn→lle peptides. Biochem Biophys Res Commun 1997, 234:249-252
37. Scheuner D, Eckman C, Jensen M, Song X, Citron M, Suzuki N, Bird TD, 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 1996, 2:864-870
38. Duff K, Eckman C, Zehr C, Yu X, Prada CM, Perez-Tur J, Hutton M, Buee L, Harigaya Y, Yager D, Morgan D, Gordon MM, Holcomb L, Refolo L, Zenk B, Hardy J, Younkin S: Increased amyloid-β42(43) in brains of mice expressing mutant presenilin 1, Nature 1996, 383:710-713
39. Citron M, Westaway D, Xia WM, Carlson G, Diehl T, Levesques 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. Hyslop PS, Selkoe DJ: Mutant presenilins of Alzheimer's disease increase production of 42-residue amyloid β-protein in both transfected cells and transgenic mice. Nature Med 1997, 3:67-72
40. Borchelt DR, Thinakaran G, Eckman CB, Lee MK, Davenport F, Ratovitsky T, Prada CM, Kim G, Seekins S, Yager D, Slunt HH, Wang R, Seeger M, Levey AI, Gandy SE, Copeland NG, Jenkins NA, Price DL, Younkin SG: Familial Alzheimer's disease-linked presenilin 1 variants elevate Aβ1-42/1-40 ratio in vitro and in vivo. Neuron 1996, 17:1005-1013
41. Lemere CA, Lopera F, Kosik KS, Lendon CL, Ossa J, Saido TC, Yamaguchi H, Ruiz A, Martinez AO, Madrigal L, Hincapie L, Arango JC, Anthony DC, Koo CH, Goate A, Selkoe DJ: The E280A presenilin 1 Aizheimer mutation produced Aβ42 deposition, and severe cerebellar pathology. Nature Med 1996, 2:1146-1150
42. Wisniewski T, Lalowski M, Bobik M, Russell M, Strosznajder J, Frangione B: Amyloid β1-42 deposits do not lead to Alzheimer's neuritic plaques in aged dogs. Biochem J 1996, 313:575-580
43. Castaño EM, Prelli F, Soto C, Beavis R, Matsubara E, Shoji M, Frangione B: The length of amyloid-β in hereditary cerebral hemorrhage with amyloidosis, Dutch type: implications for the role of amyloid-β 1-42 in Alzheimer's disease. J Biol Chem 1996, 271:32185-32191
44. Merken 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 1996, 389:297-303
45. Wong PC, Zheng H, Chen H, Becher MW, Sirinathsinghji DJS, Trumbauer ME, Chen HY, Price DL, Van der Ploeg LHT, Sisodia SS: Presenilin 1 is required for Notch 1 and D11 1 expression in the paraxial mesoderm. Nature 1997, 387:268-292
46. Doan A, Thinakaran G, Borchelt DR, Slunt HH, Ratovitsky T, Podlisny MB, Selkoe DJ, Seeger M, Gandy SE, Price DL, Sisodia SS: Protein topology of presenilin 1. Neuron 1996, 17:1023-1030
47. Li X, Greenwald I: Membrane topology of the C. elegans SEL-12 presenilin. Neuron 1996, 17:1015-1021
48. Lehman S, Chiesa R, Harris DA: Evidence for a six transmembrane domain structure of presenilin 1. J Biol Chem 1997, 272:12047-12051