Chromosome missegregation and trisomy 21 mosaicism in Alzheimer's disease

Neurobiology of Disease

Volumn 6, Issue 3, 1999, Pages 167-179

  Geller, Lisa N ^a   Potter, Huntington ^b  

^a Fish & Richardson PC   (United States)

^b UNIVERSITY OF SOUTH FLORIDA   (United States)

Author keywords

Alzheimer's disease; Aneuploidy; Chromosome segregation; Down syndrome; Fluorescence in situ hybridization; Mitosis; Presenilin

Indexed keywords

PRESENILIN 1; PRESENILIN 2;

ALZHEIMER DISEASE; ANEUPLOIDY; ARTICLE; CENTROMERE; CENTROSOME; CHROMOSOME 18; CHROMOSOME MOSAICISM; CHROMOSOME SEGREGATION; CLINICAL ARTICLE; CONTROLLED STUDY; FLUORESCENCE IN SITU HYBRIDIZATION; GENE MUTATION; HUMAN; HUMAN CELL; NONDISJUNCTION; PRIORITY JOURNAL; TRISOMY 21;

EID: 0033033062     PISSN: 09699961     EISSN: None     Source Type: Journal    
DOI: 10.1006/nbdi.1999.0236     Document Type: Article

References (135)

1. 1-antichymotrypsin in the brain amyloid deposits of Alzheimer's disease. Cell. 52:1988;487-501.
2. 1-Antichymotrypsin is present together with the β-protein in monkey brain amyloid deposits. Neuroscience. 32:1989;715-720.
3. del Alonso A. C., Zaidi T., Grundke-Iqbal I., Iqbal K. Role of abnormally phosphorylated tau in the breakdown of microtubules in Alzheimer's disease. Proc. Natl. Acad. Sci. USA. 91:1994;5562-5566.
4. Arendt T., Holzer M., Grossmann A., Zedlick D., Bruckner M. K. Increased expression and subcellular translocation of the mitogen activated protein kinase and mitogen-activated protein kinase in Alzheimer's disease. Neuroscience. 68:1995;5-18.
5. Arendt T., Rodel L., Gartner U., Holzer M. Expression of the cyclin-dependent kinase inhibitor p16 in Alzheimer's disease. NeuroReport. 7:1996;3047-3049.
6. Ashall F., Goate A. M. Role of the β-amyloid precursor protein in Alzheimer's disease. Trends Biol. Sci. 19:1994;42-46.
7. Autilio-Gambetti L., Morandi A., Tabaton M., Schaetzle B., Kovaks D., Perry G., Greenberg B., Gambetti P. The amyloid precursor protein of Alzheimer's disease is expressed as a 130 kDa polypeptide in various cultured cell types. FEBS Lett. 241:1988;94-98.
8. Avramopoulos D., Mikkelsen M., Vassilopoulos D., Grigoriadou M., Petersen M. B. Apolipoprotein E allele distribution in parents of Down's syndrome children. Lancet. 347:1996;862-865.
9. Borchelt D. R., Thinakaran G., Eckman C. B., Lee M. K., Davenport F. Familial Alzheimer's disease-linked presenilin 1 variants elevate Aβ1-42/1-40 ratio in vitro and in vivo. Neuron. 17:1996;1005-1013.
10. Buckton K. E., Whalley L. J., Lee M., Christie J. E. Chromosome changes in Alzheimer's presenile dementia. J. Med. Genet. 20:1983;46-51.
11. Busciglio J., Yankner B. A. Apoptosis and increased generation of reactive oxygen species in Down's syndrome neurons in vitro. Nature. 378:1997;776-779.
12. Busser J., Geldmacher D. S., Herrup K. Ectopic cell cycle proteins predict the sites of neuronal cell death in Alzheimer's disease brain. J. Neurosci. 18:1998;2801-2807.
13. Buxbaum J. D., Gandy S. E., Cicchetti P., Ehrlich M. E., Czernik A. J., Fracasso R. P., Ramabhadran T. V., Unterbeck A. J., Greengard P. Processing of Alzheimer β/A4 amyloid precursor protein: Modulation by agents that regulate protein phosphorylation. Proc. Natl. Acad. Sci. USA. 87:1990;6003-6006.
14. Cai X., Stanton J., Fallin D., Hoyne J., Duara R., Gold M., Sevush S., Scibelli P., Crawford F., Mullan M. No association between the intronic presenilin-1 polymorphism and Alzheimer's disease in clinic and population-based samples. Am. J. Med. Genet. 74:1997;202-203.
15. Cai X.-D., Golde T. E., Younkin S. G. Release of excess amyloid β-protein from a mutant amyloid β-protein precursor. Science. 259:1993;514-516.
16. Citron M., Oltersdorf T., Haass C., McConlogue L., Hung A. Y., Seubert P., Vigo-Pelfrey C., Lieberburg I., Selkoe D. J. Mutation of the β-amyloid precursor protein in familial Alzheimer's disease increases β-protein production. Nature. 360:1992;672-674.
17. Citron M., Westaway D., Xia W., Carlson G. Mutant presenilins of Alzheimer's disease increase production of 42-residue amyloid β-protein in both transfected cells and transgenic mice. Nat. Med. 3:1997;67-72.
18. Corder E. H., Saunders A. M., Risch N. J., Strittmatter W. J. Protective effect of apolipoprotein E type 2 allele for late onset Alzheimer's disease. Nat. Genet. 7:1994;180-184.
19. Corder E. H., Saunders A. M., Strittmatter W. J., Schmechel D. E. Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer's disease in late onset families. Science. 261:1993;921-923.
20. da Cruz e Silva E. F., da Cruz e Silva O. A. B., Zaia B. V., Greengard P. Inhibition of protein phosphatase 1 stimulates secretion of Alzheimer amyloid precursor protein. Mol. Med. 1:1995;535-541.
21. Das S., Potter H. Expression of the Alzheimer amyloid-promoting factor antichymotrypsin is induced in human astrocytes by IL-1. Neuron. 14:1995;447-456.
22. Deng G., Pike C. J., Cotman C. W. Alzheimer-associated presenilin-2 confers increased sensitivity to apoptosis in PC12 cells. FEBS Lett. 397:1996;50-54.
23. Dovey H. F., Suomensaari-Chrysler S., Lieberburg I., Sinha S., Keim P. S. Cells with a familial Alzheimer's disease mutation produce authentic beta-protein. NeuroReport. 4:1993;1039-1042.
24. Dranovsky A., Oxberry W., Lyubsky S., Goldgaber D. APP is associated with mitotic centrosomes and a distinct cytoplasmic network which colocalizes with depolymerized tubulin. Neurobiol. Aging. 17:1996;S196.
25. Duff K., Eckman C., Zher C., Yu X. Increased amyloid-β42(43) in brains of mice expressing mutant presenilin 1. Nature. 383:1996;710-713.
26. Eastmond D. A., Pinkel D. Detection of aneuploidy and aneuploidy-inducing agents in human lymphocytes using fluorescence in situ hybridization with chromosome-specific DNA probes. Mutat. Res. 234:1990;303-318.
27. Eikelenboom P., Zhan S.-S., van Gool W. A., Allsop D. Inflammatory mechanisms in Alzheimer's disease. Trends Pharmaco. Sci. 15:1994;447-450.
28. Epstein C. J. The consequences of chromosome imbalance. Am. J. Med. Genet. Suppl. 7:1990;31-37.
29. Eriksson P. S., Perfilieva E., Bjork-Eriksson T., Alborn A. M., Nordborg C., Peterson D. A., Gage F. A. Neurogenesis in the adult human hippocampus. Nat. Med. 4:1998;1313-1317.
30. Ford C. E. Nondisjunction. Burgio G. R., Fraccaro M., Tiepolo L., Wold U. Trisomy 21. 1981;103-143 Springer, Berlin/Heidelberg/New York.
31. Fuscoe J. C., Collins C. C., Pinkel D., Gray J. W. An efficient method for selecting unique-sequence clones from DNA libraries and its application to fluorescent staining of human chromosome 21 using in situ hybridization. Genomics. 5:1989;100-109.
32. Galli C., Piccini A., Ciotti M. T., Castellani L., Calissano P., Zaccheo D., Tabaton M. Increased amyloidogenic secretion in cerebellar granule cells undergoing apoptosis. Proc. Natl. Acad. Sci. USA. 95:1998;1247-1252.
33. Galloway S. M., Buckton K. E. Aneuploidy and aging: Chromosome studies on a random sample of the population using G-banding. Cytogenet. Cell Genet. 20:1978;78-95.
34. Glenner G. G., Wong C. W. Alzheimer disease and Down's syndrome: Sharing of a unique cerebrovascular amyloid fibril protein. Biochem. Biophys. Res. Commun. 122:1984;1131-1135.
35. Goldgaber D., Lerman M. J., McBride O. W., Saffiotti V., Gadjusek D. C. Characterization and chromosomal localization of a cDNA encoding brain amyloid of Alzheimer's disease. Science. 235:1987;877-880.
36. Griffin W. S. T., Stanley L., Ling C., White L., Macleod V., Perrot L. J., White C. L., Araoz C. Brain interleukin-1 and S100 immunoreactivity elevated in Down's syndrome and Alzheimer's disease. Proc. Natl. Acad. Sci. USA. 86:1989;7611-7615.
37. Grundke-Iqbal I., Iqbal K., Quinlan M., Wisniewski H. M., Binder L. I. Abnormal phosphorylation of the microtubule-associated protein tau in Alzheimer cytoskeletal pathology. Proc. Natl. Acad. Sci. USA. 83:1986;4913-4917.
38. Hall J. G. Review and hypotheses: Somatic mosaicism: Observations related to clinical studies. Am. J. Hum. Genet. 43:1988;355-363.
39. Hayflick L., Moorehead P. S. The serial cultivation of human diploid cell strains. Exp. Cell Res. 25:1961;585-621.
40. Heston L. L., Mastri A. R. The genetics of Alzheimer's disease. Arch. Gen. Psychiatry. 34:1977;976-981.
41. Heston L. L., Mastri A. R., Anderson V. E., White J. Dementia of the Alzheimer type. Arch. Gen. Psychiatry. 38:1981;1084-1090.
42. Heyman A., Wilkinson W., Hurwitz B., Schmechel D., Sigmon A., Weinberg T., Helms M., Swift M. Alzheimer's disease: Genetic aspects and associated clinical disorders. Ann. Neurol. 14:1983;507-515.
43. Homma A., Nielsen J. Chromosome aneuploidy associated with aging. Neuropsychobiology. 2:1976;104-111.
44. Illenberger S., Zheng-Fischhofer Q., Preuss U., Stamer K., Baumann K., Trinezek B., Biernat J., Godemann R., Mandelkow E. M., Mandelkow E. The endogenous and cell cycle-dependent phosphorylation of tau protein in living cells: Implications for Alzheimer's disease. Mol. Biol. Cell. 9:1998;1495-1512.
45. Isoe K., Urakami K., Ji Y., Adachi Y., Nakashima K. Presenilin-1 polymorphism in patients with Alzheimer's disease, vascular dementia and alcohol-associated dementia in Japanese population. Acta Neurol. Scand. 94:1996;326-328.
46. Janicki S., Monteiro M. J. Increased apoptosis arising from increased expression of the Alzheimer's disease-associated presenilin-2 mutation (N141I). J. Cell Biol. 139:1997;485-495.
47. Jarvik L. F., Yen F.-S., Goldstein F. Chromosomes and mental status. A study of women residing in institutions for the elderly. Arch. Gen. Psychiatry. 30:1974;186-190.
48. Kang J., Lemaire H. G., Unterback A., Salbaum J. M., Masters C. L., Grezeschik K. H., Multhaup G., Beyreuther K., Müller-Hill B. The precursor of Alzheimer disease amyloid A4 protein resembles a cell-surface receptor. Nature. 325:1987;733-736.
49. Kehoe P., Williams J., Holmans P., Liddell M., Lovestone S., Holmes C., Powell J., Neal J., Wilcock G., Owen M. J. Association between a PS-1 intronic polymorphism and late onset Alzheimer's disease. NeuroReport. 7:1996;2155-2158.
50. Kondratick C. M., Vandre D. D. Alzheimer's disease neurofibrillary tangles contain mitosis-specific phosphoepitopes. J. Neurochem. 67:1996;2405-2416.
51. Kormann-Bortolotto M. H., Smith M. A. C., Neto J. T. Alzheimer's disease and ageing: A chromosomal approach. Gerontology. 39:1993;1-6.
52. Kuhn H. G., Dickinson-Anson H., Gage F. H. Neurogenesis in the dentate gyrus of the adult rat: Age-related decrease of neuronal progenitor proliferation. J. Neurosci. 16:1996;2027-2033.
53. Kuo W.-L., Tenjin H., Segraves R., Pinkel D., Golbus M. S., Gray J. Detection of aneuploidy involving chromosomes 13, 18, or 21, by fluorescence in situ hybridization (FISH) to interphase and metaphase amniocytes. Am. J. Hum. Genet. 49:1991;112-119.
54. Lassmann H., Bancher C., Breitschopf H., Wegiel J., Bobinski M., Jellinger K., Wiesniewski H. M. Cell death in Alzheimer's disease evaluated by DNA fragmentation in situ. Acta Neuropathol. 89:1995;35-41.
55. LeBlank A. Increased production of 4KDa amyloid beta peptide in serum-deprived human primary neuron cultures: Possible involvement of apoptosis. J. Neurosci. 15:1995;7837-7846.
56. Lendon C. L., Myers A., Cumming A., Goate A. M., St. Clair D. A polymorphism in the presenilin 1 gene does not modify risk for Alzheimer's disease in a cohort with sporadic early onset. Neurosci. Lett. 228:1997;212-214.
57. Levy E., Carman M. D., Fernandez-Madrid I. J., Lieberburg I., Power M. D., van Duinen S. G., Bots G. T. A. M., Luyendijk W., Frangione B. Mutation of the Alzheimer's disease amyloid gene in hereditary cerebral hemorrhage, Dutch type. Science. 248:1990;1124-1126.
58. Levy-Lahad E., Wijsman E. M., Nemens E., Anderson L., Goddard K. A. B., Weber J. L., Bird T. D., Schellenberg G. D. A familial Alzheimer's disease locus on chromosome 1. Science. 269:1995a;970-973.
59. Levy-Lahad E., Wasco W., Poorkaj P., Romano D. M., Oshima J., Pettingell W. H. Candidate gene for the chromosome 1 familial Alzheimer's disease locus. Science. 269:1995b;973-977.
60. Li J., Ma J., Potter H. Identification and expression analysis of a potential familial Alzheimer's disease gene on chromosome 1 related to AD3. Proc. Natl. Acad. Sci. USA. 92:1995;12180-12184.
61. Li J., Xu M., Zhou H., Ma J., Potter H. Alzheimer presenilins in the nuclear membrane, interphase kinetochores, and centrosomes suggest a role in chromosome segregation. Cell. 90:1997;917-927.
62. Lichter P., Cremer T., Tang C.-J. C., Watkins P. C., Manuelidis L., Ward D. C. Rapid detection of human chromosome 21 aberrations by in situ hybridization. Proc. Natl. Acad. Sci. USA. 85:1988;9664-9668.
63. Lorenzo A., Yankner B. A. β-Amyloid neurotoxicity requires fibril formation and is inhibited by Congo red. Proc. Natl. Acad. Sci. USA. 91:1994;12243-12247.
64. Lyon M. F. Gene action in the X chromosome of the mouse. Nature. 190:1961;372-373.
65. Ma J., Brewer H. B. Jr., Potter H. Alzheimer Aβ neurotoxicity: Promotion by antichymotrypsin, ApoE4; inhibition by Aβ-related peptides. Neurobiol. Aging. 17:1996;773-780.
66. 1-antichymotrypsin and apolipoprotein E promote assembly of Alzheimer β-protein into filaments. Nature. 372:1994;92-94.
67. Martins R. N., Turner B. A., Carroll R. T., Sweeney D. High levels of amyloid-β protein from S182 (Glu246) familial Alzheimer's cells. NeuroReport. 7:1995;217-220.
68. Matsuyama S. S., Jarvik L. F. Hypothesis: Microtubules, a key to Alzheimer's disease. Proc. Natl. Acad. Sci. USA. 86:1989;8152-8156.
69. McGeer P. L., Itagaki S., Boyes B. E., McGeer E. G. Reactive microglia in patients with senile dementia of the Alzheimer type are positive for the histocompatibility glycoprotein HLA-DR. Neurosci. Lett. 79:1987;195-200.
70. McGeer P. L., Kawamata T., Walker D. G., Abyama H., Toyama I., McGeer E. G. Microglia in degenerative neurological disease. Glia. 7:1993;84-92.
71. McShea A., Harris P. L. R., Webster K. R., Wahl A. F., Smith M. A. Abnormal expression of the cell cycle regulators P16 and CDK4 in Alzheimer's disease. Am. J. Pathol. 150:1997;1993-1939.
72. McShea A., Wahl A. F., Smith M. A. Re-entry into the cell cycle: A mechanism for neurodegeneration in Alzheimer disease. Med. Hypotheses. 1999.
73. Migliore L., Testa A., Scarpato R., Pavese N., Petrozzi L., Bonuccelli U. Spontaneous and induced aneuploidy in peripheral blood lymphocytes of patients with Alzheimer's disease. Hum. Genet. 101:1997;299-305.
74. Moorhead P. S., Heyman A. Chromosome studies of patients with Alzheimer's disease. Am. J. Med. Genet. 14:1983;545-556.
75. Nagy Z., Esiri M. M., Cato A. M., Smith A. D. Cell cycle markers in the hippocampus in Alzheimer's disease. Acta Neuropathol. 94:1997;6-15.
76. Neve R. L., Finch E. A., Dawes L. R. Expression of the Alzheimer amyloid precursor gene transcripts in the human brain. Neuron. 1:1988;669-677.
77. Nilsson L., Rogers J., Potter H. The essential role of inflammation and induced gene expression in the pathogenic pathway of Alzheimer's disease. Front. Biosci. 3:1998;436-446.
78. Nordenson I., Adolfsson R., Beckman G., Bucht G., Winblad B. Chromosomal abnormality in dementia of Alzheimer type. Lancet. 1:1980;481-482.
79. Olson M. I., Shaw C. M. Presenile dementia and Alzheimer's disease in mongolism. Brain. 92:1969;147-156.
80. Oyama F., Cairns N. J., Shimada H., Oyama R., Titani K., Ihara Y. Down's syndrome: Up-regulation of beta-amyloid protein precursor and tau mRNAs and their defective coordination. J. Neurochem. 62:1994;1062-1066.
81. Pagon R. A., Hall J. G., Davenport S. L. H., Aase J., Norwood T. H., Hoehn H. W. Abnormal skin fibroblast cytogenetics in four dysmorphic patients with normal lymphocyte chromosomes. Am. J. Hum. Genet. 31:1979;54-61.
82. Petersen M. B., Karadima G., Samaritaki M., Avramopoulos D., Vassilopoulos D., Mikkelsen M. Association between presenilin-1 polymorphism and maternal meiosis II errors in Down syndrome. Am. J. Hum. Genet. 61:1997;A137.
83. Pike C. J., Walencewicz A. J., Glabe C. G., Cotman C. W. In vitro aging of β-amyloid protein causes peptide aggregation and neurotoxicity. Brain Res. 563:1991;311-314.
84. Pope W. B., Lambert M. P., Leypold B., Seupaul R., Sletten L., Krafft G., Klein W. L. Microtubule-associated protein tau is hyperphosphorylated during mitosis in the human neuroblastoma cell line SH-SY5Y. Exp. Neurol. 126:1994;185-194.
85. Potter H. Review and hypothesis: Alzheimer's disease and Down syndrome - Chromosome 21 nondisjunction may underlie both disorders. Am. J. Hum. Genet. 48:1991;1192-1200.
86. Potter H. The involvement of astrocytes and an acute phase response in the amyloid deposition of Alzheimer's disease. Yu A. C. H., Hertz L. M. D. Neuronal-Astrocytic Interactions: Implication for Normal and Pathological CNS Function. 1992;447-458 Elsevier.
87. Potter H., Geller L. N. Alzheimer's disease, Down's syndrome, and chromosome segregation. Lancet. 348:1996;66.
88. Potter H., Ma J., Das S. Beyond β-protein: New steps in the pathogenic pathway to Alzheimer's disease. Iqbal J. A., Mortimer B., Winblad, Wisniewski W. H. Research Advances in Alzheimer's Disease and Related Disorders. 1995;643-654 Wiley, New York.
89. Preuss U., Döring F., Illenberger S., Mandelkow E.-M. Cell cycle-dependent phosphorylation and microtubule binding of tau protein stably transfected in Chinese hamster ovary cells. Mol. Biol. Cell. 6:1995;1397-1410.
90. Preuss U., Mandelkow E. M. Mitotic phosphorylation of tau protein in neuronal cell lines resembles phosphorylation in Alzheimer's disease. Eur. J. Cell Biol. 76:1998;176-184.
91. Rakic P. Limits of neurogenesis in primates. Science. 227:1985;1054-1056.
92. Rassoulzadegan M., Cuzin F., Yang Y. APLP2, a member of the Alzheimer precursor protein family, is required for correct genomic segregation in dividing mouse cells. EMBO J. 17:1998;4647-4656.
93. Robakis N. K., Ramakrishna N., Wolfe G., Wisniewski H. M. Molecular cloning and characterization of a cDNA encoding the cerebrovascular and the neuritic plaque amyloid peptides. Proc. Natl. Acad. Sci. USA. 84:1987;4190-4194.
94. Rogaev E. I., Sherrington R., Rogaeva E. A., Levesque G., Ikeda M., Liang Y. 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. 376:1995;775-778.
95. Roperch J.-P., Alvaro V., Prieur S., Tuynder M., Nemani M., Lethrosne F., Piouffre L., Gendron M.-C., Israeli D., Dausset J., Oren M., Amson R., Telerman A. Inhibition of presenilin 1 expression is promoted by p53 and p21waf1 and results in apoptosis and tumor suppression. Nat. Med. 4:1998;835-838.
96. Rowe I. F., Ridler M. A. C., Gibberd F. B. Presenile dementia associated with mosaic trisomy 21 in a patient with a Down syndrome child. Lancet. July 22, 2:1989;229.
97. Rumble B., Retallack R., Hilbich C., Simms G., Multhaup G., Martins R., Hockey A., Montgomery P., Beyreuther K., Masters C. L. Amyloid A4 protein and its precursor in Down's syndrome and Alzheimer's disease. N. Engl. J. Med. 320:1989;1446-1452.
98. Sanan D. A., Weisgraber K. H., Russel S. J., Mahley R. W., Huang D., Saunders A., Schmechel D., Wisniewski T., Frangione B., Roses A. D., Strittmatter W. J. Apolipoprotein E associates with β amyloid peptide of Alzheimer's disease to form novel monofibrils. J. Clin. Invest. 94:1994;860-869.
99. Schapiro M. B., Kumar A., White B., Grady C. L., Friedland R. P., Rapoport S. I. Alzheimer's disease (AD) in mosaic/translocation Down's syndrome (Ds) without mental retardation. Neurology. 39:1989;169.
100. Schellenberg G. D. Genetic dissection of Alzheimer disease, a heterogeneous disorder. Proc. Natl. Acad. Sci. USA. 92:1995;8552-8559.
101. Schellenberg G. D., Bird T. D., Wijsman E. M., Orr H. T., Anderson L., Nemens E., White J. A. Genetic linkage evidence for a familial Alzheimer's disease locus on chromosome 14. Science. 258:1992;668-670.
102. Scheuner D., Eckman C., Jensen M., 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. Nat. Med. 2:1996;864-870.
103. Schupf N., Kapell D., Lee J. H., Ottman R., Mayeux R. Increased risk of Alzheimer's disease in mothers of adults with Down's syndrome. Lancet. 344:1994;354-356.
104. Schweber M. A possible unitary genetic hypothesis for Alzheimer's disease and Down syndrome. Ann. N. Y. Acad. Sci. 450:1985;223-238.
105. Schweber M. S. Alzheimer's disease and Down syndrome. Prog. Clin. Biol. Res. 317:1989;247-267.
106. Sheng J. G., Mrak R. E., Griffin W. S. Microglial interleukin-1 alpha expression in brain regions in Alzheimer's disease: Correlation with neuritic plaque distribution. Neuropathol. Appl. Neurobiol. 21:1995;290-301.
107. Sherrington R., Rogaev E. I., Liang Y., Rogaeva E. A., Levesque G. Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease. Nature. 375:1995;754-760.
108. Slack B. E., Breu J., Petryniak M. A., Srivastava K., Wurtman R. J. Tyrosine phosphorylation-dependent stimulation of amyloid precursor protein secretion by the m3 muscarinic acetylcholine receptor. J. Biol. Chem. 270:1995;8337-8334.
109. Smale G., Nichols N. R., Brady D. R., Finch C. E., Horton W. E. Jr. Evidence for apoptotic cell death in Alzheimer's disease. Exp. Neurol. 133:1995;225-230.
110. Smith T. W., Lippa C. F. TI Ki-67 immunoreactivity in Alzheimer's disease and other neurodegenerative disorders. J. Neuropathol. Exp. Neurol. 54:1995;297-303.
111. Stallard R., Hanley N. R., Frank P. A., Styron P., Juberg R. C. Leukocyte chromosomes from parents of cytogenetically abnormal offspring: Preliminary observations. Cytogenet. Cell Genet. 30:1981;50-53.
112. Strittmatter W. J., Roses A. D. Apolipoprotein E and Alzheimer disease. Proc. Natl. Acad. Sci. USA. 92:1995;4725-4727.
113. Strittmatter W. J., Saunders A. M., Schmechel D. Apolipoprotein E: High affinity binding to β-amyloid and increased frequency of type 4 allele in late-onset familial Alzheimer's disease. Proc. Natl. Acad. Sci. USA. 90:1993;1977-1981.
114. Su J. H., Anderson A. J., Cummings B. J., Cotman C. W. Immunohistochemical evidence for apoptosis in Alzheimer's disease. NeuroReport. 5:1994;2529-2253.
115. 717) mutants. Science. 264:1994;1336-1340.
116. Tanzi R. E., Gusella J. F., Watkins P. C., Bruns G. A. P., St. George-Hyslop P., Van Keuren M. L., Patterson D. Amyloid β-protein gene: cDNA, mRNA distributions, and genetic linkage near the Alzheimer locus. Science. 235:1987;880-884.
117. Teller J. K., Russo C., DeBusk L. M., Angelini G. Presence of soluble amyloid β-peptide precedes amyloid plaque formation in Down's syndrome. Nat. Med. 2:1996;93-95.
118. Tysoe C., Whittaker J., Cairns N. J., Atkinson P. F., Harrington C. R., Xuereb J., Wilcock G., Rubinsztein D. C. Presenilin-1 intron 8 polymorphism is not associated with autopsy-confirmed late-onset Alzheimer's disease. Neurosci. Lett. 222:1997;68-69.
119. Van Broeckhoven C., Backhovens H., Cruts M., Martin J. J., Crook R., Houlden, Hardy J. ApoE genotype does not modulate age of onset in families with chromosome 14 encoded Alzheimer's disease. Neurosci. Lett. 169:1994;179-180.
120. Van Broeckhoven C., Hann J., Bakker E., Hardy J. A., Van Hul W., Wehnert A., Vegter-Van der Vlis M. Amyloid β protein precursor gene and hereditary cerebral hemorrhage with amyloidosis (Dutch). Science. 248:1990;1120-1122.
121. Vincent I., Jicha G., Rosado M., Dickson D. W. Aberrant expression of mitotic Cdc2/cyclin B1 kinase in degenerating neurons of Alzheimer's disease brain. J. Neurosci. 17:1997;3588-3598.
122. Vincent I., Rosado M., Davies P. Mitotic mechanisms in Alzheimer's disease. J. Cell Biol. 132:1996;413-425.
123. 2+-binding protein ALG-2 and Alzheimer's disease gene ALG-3. Science. 271:1996a;521-525.
124. Vito P., Wolozin B., Ganjei J. K., Iwasaki K., Lacana E., D'Adamio L. Requirement of the familial Alzheimers disease gene PS2 for apoptosis. J. Biol. Chem. 271:1996b;31025-31028.
125. Ward B. E., Cook R. H., Robinson A., Austin J. H. Increased aneuploidy in Alzheimer disease. Am. J. Med. Genet. 3:1979;137-144.
126. White B. J., Crandall C., Goudsmit J., Morrow C. H., Alling D. W., Gajdusek D. C., Tjio J. H. Cytogenetic studies of familial and sporadic Alzheimer disease. Am. J. Med. Genet. 10:1981;77-89.
127. Wisniewski H. M., Rabe A., Wisniewski K. E. Neuropathology and dementia in people with Down's syndrome. Davies P., Finch C. Molecular Neuropathology of Aging. 1988;399-413 Cold Spring Harbor Laboratory Press, New York.
128. Wisniewski T., Ghiso J., Frangione B. Apolipoprotein E: A pathological chaperone in patients with cerebral and systemic amyloid. Biochem. Biophys. Res. Commun. 179:1991a;1247-1254.
129. Wisniewski T., Ghiso J., Frangione B. Peptides homologous to the amyloid protein of Alzheimer's disease containing a glutamine for glutamic acid substitution have accelerated amyloid fibril formation. Biochem. Biophys. Res. Commun. 179:1991b;1247-1254.
130. Wisniewski T., Castaño E. M., Golabek A., Vogel T., Frangione B. Acceleration of Alzheimer's fibril formation by apolipoprotein E in vitro. Am. J. Pathol. 145:1994;1030-1035.
131. Wolozin B., Iwasaki K., Vito P., Ganjei J. K., Lacana E., Sunderland T., Zhao B., Kusiak J. W., Wasco W., D'Adamio L. Participation of presenilin 2 in apoptosis: Enhanced basal activity conferred by an Alzheimer mutation. Science. 274:1996;1710-1713.
132. Wragg M., Hutton M., Talbot C. Genetic association between intronic polymorphism in presenilin-1 gene and late-onset Alzheimer's disease. Alzheimer's Disease Collaborative Group. Lancet. 347:1996;509-512.
133. Yankner B. A., Duffy L. K., Kirschner D. A. Neurotrophic and neurotoxic effects of amyloid β protein: Reversal by tachykinin neuropeptides. Science. 250:1990;279-282.
134. Yamada M., Sodeyama N., Itoh Y., Suematsu N., Otomo E., Matsushita M., Mizusawa H. Association of presenilin-1 polymorphism with cerebral amyloid angiopathy in the elderly. Stroke. 28:1997;2219-2221.
135. Zimmermann K., Herget T., Salbaum J. M., Schubert W., Hilbich C., Cramer M., Masters C. L., Malthaup G., Kang J., Lemaire H. G. Localization of the putative precursor of Alzheimer's disease-specific amyloid at nuclear envelopes of adult human muscle. EMBO J. 7:1988;367-372.