Causative and susceptibility genes for Alzheimer's disease: A review

Brain Research Bulletin

Volumn 61, Issue 1, 2003, Pages 1-24

  Rocchi, A ^a   Pellegrini, S ^a   Siciliano, G ^a   Murri, L ^a  

^a UNIVERSITY OF PISA   (Italy)

Author keywords

Amyloid precursor protein; Apolipoprotein E; Association studies; Dementia; Genetic risk factors; Polymorphism; Presenilin

Indexed keywords

ALPHA 1 ANTICHYMOTRYPSIN; ALPHA 2 MACROGLOBULIN; ALPHA SECRETASE; AMYLOID PRECURSOR PROTEIN; APOLIPOPROTEIN E; APOLIPOPROTEIN E2; APOLIPOPROTEIN E3; APOLIPOPROTEIN E4; BLEOMYCIN HYDROLASE; CASPASE; CATENIN; CATHEPSIN D; CHOLINESTERASE; DIPEPTIDYL CARBOXYPEPTIDASE; GAMMA SECRETASE; INSULINASE; LOW DENSITY LIPOPROTEIN RECEPTOR RELATED PROTEIN; MEMBRANE PROTEIN; NICASTRIN; NITRIC OXIDE SYNTHASE; PRESENILIN 1; PRESENILIN 2; PROTEIN; SEROTONIN TRANSPORTER; TRANSCRIPTION FACTOR; TRANSFERRIN; TRANSFORMING GROWTH FACTOR BETA1; TRINUCLEOTIDE; VERY LOW DENSITY LIPOPROTEIN RECEPTOR;

ALLELE; ALZHEIMER DISEASE; APOPTOSIS; CELL DEATH; CHOLINERGIC SYSTEM; CHROMOSOME 12; CHROMOSOME 12Q; CHROMOSOME 14; CHROMOSOME 19; CHROMOSOME 21; CHROMOSOME 21Q; CHROMOSOME 9; DISEASE ASSOCIATION; DISEASE COURSE; DISEASE PREDISPOSITION; ENDOSOME; FAMILIAL DISEASE; GENE; GENE DELETION; GENE FUNCTION; GENE INSERTION; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC CODE; GENETIC LINKAGE; GENETIC POLYMORPHISM; GENETIC RISK; GENETIC SUSCEPTIBILITY; GENOTYPE; HAPLOTYPE; HUMAN; HYPOTHESIS; IMMUNOREGULATION; LYSOSOME; MICROGLIA; MISSENSE MUTATION; MOLECULAR GENETICS; NERVE REGENERATION; NEUROTOXICITY; ONSET AGE; PATHOGENESIS; POINT MUTATION; PRIORITY JOURNAL; PROTEIN DEGRADATION; PROTEIN FAMILY; PROTEIN FUNCTION; PROTEIN STRUCTURE; REVIEW; SENILE PLAQUE;

EID: 0038240721     PISSN: 03619230     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0361-9230(03)00067-4     Document Type: Review

References (292)

1. Abraham C.R., Selkoe D.J., Potter H. Immunochemical identification of the serine protease inhibitor alpha 1-antichymotrypsin in the brain amyloid deposits of Alzheimer's disease. Cell. 52:1988;487-501.
2. Abraham C.R., Shirahama T., Potter H. Alpha 1-antichymotrypsin is associated solely with amyloid deposits containing the beta-protein. Neurobiol. Aging. 11:1990;123-129.
3. Akama K.T., Albanese C., Pestell R.G., Van Eldik L.J. Amyloid beta-peptide stimulates nitric oxide production in astrocytes through an NFkappaB-dependent mechanism. Proc. Natl. Acad. Sci. U.S.A. 95:1998;5795-5800.
4. Alvarez R., Alvarez V., Lahoz C.H., Martinez C., Pena J., Sanchez J.M., Guisasola L.M., Salas-Puig J., Moris G., Vidal J.A., Ribacoba R., Menes B.B., Uria D., Coto E. Angiotensin converting enzyme and endothelial nitric oxide synthase DNA polymorphisms and late onset Alzheimer's disease. J. Neurol. Neurosurg. Psychiatry. 67:1999;733-736.
5. Alvarez V., Alvarez R., Lahoz C.H., Martinez C., Pena J., Guisasola L.M., Salas-Puig J., Moris G., Uria D., Menes B.B., Ribacoba R., Vidal J.A., Sanchez J.M., Coto E. Association between an alpha(2) macroglobulin DNA polymorphism and late-onset Alzheimer's disease. Biochem. Biophys. Res. Commun. 264:1999;48-50.
6. Alvarez-Arcaya A., Combarros O., Llorca J., Sanchez-Guerra M., Berciano J., Fernandez-Luna J.L. The -491 TT apolipoprotein E promoter polymorphism is associated with reduced risk for sporadic Alzheimer's disease. Neurosci. Lett. 304:2001;204-208.
7. Amouyel P., Richard F., Berr C., David-Fromentin I., Helbecque N. The renin angiotensin system and Alzheimer's disease. Ann. N.Y. Acad. Sci. 903:2000;437-441.
8. Amtul Z., Lewis P.A., Piper S., Crook R., Baker M., Findlay K., Singleton A., Hogg M., Younkin L., Younkin S.G., Hardy J., Hutton M., Boeve B.F., Tang-Wai D., Golde T.E. A presenilin 1 mutation associated with familial frontotemporal dementia inhibits gamma-secretase cleavage of APP and notch. Neurobiol. Dis. 9:2002;269-273.
9. Ancolio K., Dumanchin C., Barelli H., Warter J.M., Brice A., Campion D., Frebourg T., Checler F. Unusual phenotypic alteration of beta amyloid precursor protein (betaAPP) maturation by a new Val-715 → Met betaAPP-770 mutation responsible for probable early-onset Alzheimer's disease. Proc. Natl. Acad. Sci. U.S.A. 96:1999;4119-4124.
10. Araria-Goumidi L., Huguet J.B., Lambert J.C., Frigard B., Cottel D., Amouyel P., Chartier-Harlin M.C. No association of the -48CT polymorphism of the presenilin 1 gene with Alzheimer disease in a late-onset sporadic population. J. Neural. Transm. 109:2002;1023-1027.
11. Araria-Goumidi L., Lambert J.C., Mann D.M., Lendon C., Frigard B., Iwatsubo T., Cottel D., Amouyel P., Chartier-Harlin M.C. Association study of three polymorphisms of TGF-beta1 gene with Alzheimer's disease. J. Neurol. Neurosurg. Psychiatry. 73:2002;62-64.
12. Arendt T., Schindler C., Bruckner M.K., Eschrich K., Bigl V., Zedlick D., Marcova L. Plastic neuronal remodeling is impaired in patients with Alzheimer's disease carrying apolipoprotein ε4 allele. J. Neurosci. 17:1997;516-529.
13. Artiga M.J., Bullido M.J., Frank A., Sastre I., Recuero M., Garcia M.A., Lendon C.L., Han S.W., Morris J.C., Vazquez J., Goate A., Valdivieso F. Risk for Alzheimer's disease correlates with transcriptional activity of the APOE gene. Hum. Mol. Genet. 7:1998;1887-1892.
14. Artiga M.J., Bullido M.J., Sastre I., Recuero M., Garcia M.A., Aldudo J., Vazquez J., Valdivieso F. Allelic polymorphisms in the transcriptional regulatory region of apolipoprotein E gene. FEBS Lett. 421:1998;105-108.
15. Athan E.S., Lee J.H., Arriaga A., Mayeux R.P., Tycko B. Polymorphisms in the promoter of the human APP gene: functional evaluation and allele frequencies in Alzheimer disease. Arch. Neurol. 59:2002;1793-1799.
16. Bacskai B.J., Klunk W.E., Mathis C.A., Hyman B.T. Imaging amyloid-beta deposits in vivo. J. Cereb. Blood Flow Metab. 22:2002;1035-1041.
17. Bagnoli S., Nacmias B., Tedde A., Guarnieri B.M., Cellini E., Ciantelli M., Petruzzi C., Bartoli A., Ortenzi L., Serio A., Sorbi S. Cathepsin D polymorphism in Italian sporadic and familial Alzheimer's disease. Neurosci. Lett. 328:2002;273-276.
18. Bartels C.F., Jensen F.S., Lockridge O., Van der Spek A.F., Rubinstein H.M., Lubrano T., La Du B.N. DNA mutation associated with the human butyrylcholinesterase K-variant and its linkage to the atypical variant mutation and other polymorphic sites. Am. J. Hum. Genet. 50:1992;1086-1103.
19. Beck J.A., Janssen J.C., Campbell T.A., Dickinson A., Fox N.C., Harvey R.J., Houlden H., Rossor M.N., Collinge J. Early onset familial Alzheimer's disease: mutation frequency in 31 families. Neurobiol. Aging. 23(1S):2002;S311.
20. Beckman L., Beckman G. Transferrin C2 as an enhancer of cyto- and genotoxic damage. Prog. Clin. Biol. Res. 209B:1986;221-224.
21. Berezovska O., Jack C., McLean P., Aster J.C., Hicks C., Xia W., Wolfe M.S., Weinmaster G., Selkoe D.J., Hyman B.T. Rapid Notch1 nuclear translocation after ligand binding depends on presenilin-associated gamma-secretase activity. Ann. N.Y. Acad. Sci. 920:2000;223-226.
22. Bertram L., Blacker D., Mullin K., Keeney D., Jones J., Basu S., Yhu S., McInnis M.G., Go R.C., Vekrellis K., Selkoe D.J., Saunders A.J., Tanzi R.E. Evidence for genetic linkage of Alzheimer's disease to chromosome 10q. Science. 290:2000;2302-2303.
23. Bertram L., Guenette S., Jones J., Keeney D., Mullin K., Crystal A., Basu S., Yhu S., Deng A., Rebeck G.W., Hyman B.T., Go R., McInnis M., Blacker D., Tanzi R. No evidence for genetic association or linkage of the cathepsin D (CTSD) exon 2 polymorphism and Alzheimer disease. Ann. Neurol. 49:2001;114-116.
24. Beyer K., Lao J.I., Gomez M., Riutort N., Latorre P., Mate J.L., Ariza A. Alzheimer's disease and the cystatin C gene polymorphism: an association study. Neurosci. Lett. 315:2001;17-20.
25. Bhojak T.J., DeKosky S.T., Ganguli M., Kamboh M.I. Genetic polymorphisms in the cathespin D and interleukin-6 genes and the risk of Alzheimer's disease. Neurosci. Lett. 288:2000;21-24.
26. Blacker D., Wilcox M.A., Laird N.M., Rodes L., Horvath S.M., Go R.C., Perry R., Watson B. Jr., Bassett S.S., McInnis M.G., Albert M.S., Hyman B.T., Tanzi R.E. Alpha-2 macroglobulin is genetically associated with Alzheimer disease. Nat. Genet. 19:1998;357-360.
27. 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 Abeta 1-42/1-40 ratio in vitro and in vivo. Neuron. 17:1996;1005-1013.
28. Boussaha M., Hannequin D., Verpillat P., Brice A., Frebourg T., Campion D. Polymorphisms of insulin degrading enzyme gene are not associated with Alzheimer's disease. Neurosci. Lett. 329:2002;121.
29. Bowen D.M., Allen S.J., Benton J.S.et al. Biochemical assessment of serotonergic and cholinergic dysfunction and cerebral atrophy in Alzheimer's disease. J. Neurochem. 41:1983;266-272.
30. Brindle N., Song Y., Rogaeva E., Premkumar S., Levesque G., Yu G., Ikeda M., Nishimura M., Paterson A., Sorbi S., Duara R., Farrer L., St George-Hyslop P. Analysis of the butyrylcholinesterase gene and nearby chromosome 3 markers in Alzheimer disease. Hum. Mol. Genet. 7:1998;933-935.
31. Bromme D., Rossi A.B., Smeekens S.P., Anderson D.C., Payan D.G. Human bleomycin hydrolase: molecular cloning; sequencing; functional expression; and enzymatic characterization. Biochemistry. 35:1996;6706-6714.
32. Brooks W.S., Martins R.N., De Voecht J., Nicholson G.A., Schofield P.R., Kwok J.B., Fisher C., Yeung L.U., Van Broeckhoven C. A mutation in codon 717 of the amyloid precursor protein gene in an Australian family with Alzheimer's disease. Neurosci. Lett. 199:1995;183-186.
33. Bullido M.J., Artiga M.J., Recuero M., Sastre I., Garcia M.A., Aldudo J., Lendon C., Han S.W., Morris J.C., Frank A., Vazquez J., Goate A., Valdivieso F. A polymorphism in the regulatory region of APOE associated with risk for Alzheimer's dementia. Nat. Genet. 18:1998;69-71.
34. Campion D., Brice A., Hannequin D., Charbonnier F., Dubois B., Martin C., Michon A., Penet C., Bellis M., Calenda A., Martinez M., Agid Y., Clerget-Darpoux F., Frebourg T. No founder effect in three novel Alzheimer's disease families with APP 717 Val → Ile mutation. Clerget-darpoux. French Alzheimer's disease study group. J. Med. Genet. 33:1996;661-664.
35. Cao X., Sudhof T.C. A transcriptionally active complex of APP with Fe65 and histone acetyltransferase Tip60. Science. 293:2001;115-120.
36. Chartier-Harlin M.C., Crawford F., Houlden H., Warren A., Hughes D., Fidani L., Goate A., Rossor M., Roques P., Hardy J.et al. Early-onset Alzheimer's disease caused by mutations at codon 717 of the beta-amyloid precursor protein gene. Nature. 353:1991;844-846.
37. Chen L., Baum L., Ng H.K., Chan Y.S., Mak Y.T., Woo J., Chiu H., Pang C.P. No association detected between very-low-density lipoprotein receptor (VLDL-R) and late-onset Alzheimer's disease in Hong Kong Chinese. Neurosci. Lett. 241:1998;33-36.
38. Cheng C.Y., Hong C.J., Liu H.C., Liu T.Y., Tsai S.J. Study of the association between Alzheimer's disease and angiotensin-converting enzyme gene polymorphism using DNA from lymphocytes. Eur. Neurol. 47:2002;26-29.
39. Christie R.H., Chung H., Rebeck G.W., Strickland D., Hyman B.T. Expression of the very low-density lipoprotein receptor (VLDL-r); an apolipoprotein-E receptor; in the central nervous system and in Alzheimer's disease. J. Neuropathol. Exp. Neurol. 55:1996;491-498.
40. Chui H.C., Tierney M., Zarow C., Lewis A., Sobel E., Perlmutter L.S. Neuropathologic diagnosis of Alzheimer disease: interrater reliability in the assessment of senile plaques and neurofibrillary tangles. Alzheimer Dis. Assoc. Disord. 7:1993;48-54.
41. Chung H., Roberts C.T., Greenberg S., Rebeck G.W., Christie R., Wallace R., Jacob H.J., Hyman B.T. Lack of association of trinucleotide repeat polymorphisms in very-low-density lipoprotein receptor gene with Alzheimer's disease. Ann. Neurol. 39:1996;800-803.
42. Citron M., Oltersdorf T., Haass C., McConlogue L., Hung A.Y., Seubert P., Vigo-Pelfrey C., Lieberburg I., Selkoe D.J. Mutation of the beta-amyloid precursor protein in familial Alzheimer's disease increases beta-protein production. Nature. 360:1992;672-674.
43. 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 beta-protein in both transfected cells and transgenic mice. Nat. Med. 3:1997;67-72.
44. Clark R.F., Hutton M., Fuldner R.A., Froelinch S., Karran E., Talbot C., Crook R., Lendon C., Prihar G., He C., Korenblat K., Martinez A., Wragg M., Busfield F., Behrens M.I., Myers A., Norton J., Morris J., Mehta N., Pearson C., Lincoln S., Baker M., Duff K., Zehr C., Perez-Tur J., Houlden H., Ruiz A., Ossa J., Lopera F., Arcos M., Madrigal L., Collinge J., Humphreys C., Asworth A., Sarner S., Fox N., Harvey R., Kennedy A., Roques P., Cline R.T., Philips C.A., Venter J.C., Forsell L., Axelman K., Lilius L., Johnston J., Cowburn R., Viitanen M., Winblad B., Kosik K., Haltia M., Pöyhönen M., Dickson D., Mann D., Neary D., Snowden J., Lantos P., Lannfelt L., Rossor M., Roberts G.W., Adams M.D., Hardy J., Goate A. The structure of the presenilin1 (S182) gene and identification of six novel mutations in early onset AD families. Nat. Genet. 11:1995;219-222.
45. Collier D.A., Stober G., Li T., Heils A., Catalano M., Di Bella D., Arranz M.J., Murray R.M., Vallada H.P., Bengel D., Muller C.R., Roberts G.W., Smeraldi E., Kirov G., Sham P., Lesch K.P. A novel functional polymorphism within the promoter of the serotonin transporter gene: possible role in susceptibility to affective disorders. Mol. Psychiatry. 6:1996;453-460.
46. *4 a 'thrifty' allele? Ann. Hum. Genet. 63:1999;301-310.
47. Corder E., Saunders A., Risch N., Strittmatter W., Schmechel D., Gaskell P., Rimmler J., Locke P., Conneally P., Schmader K., Small G., Roses A., Haines J., Pericak-Vance M. Protective effect of apolipoprotein E type 2 allele for late onset Alzheimer disease. Nat. Genet. 7:1994;180-184.
48. Corder E.H., Saunders A.M., Strittmatter W.J., Schmechel D.E., Gaskell P.C., Small G.W., Roses A.D., Haines J.L., Pericak-Vance M.A. Gene dose of apolipoprotein E type ε4 allele and the risk of Alzheimer's disease in late onset families. Science. 261:1993;921-923.
49. Crawford F., Fallin D., Suo Z., Abdullah L., Gold M., Gauntlett A., Duara R., Mullan M. The butyrylcholinesterase gene is neither independently nor synergistically associated with late-onset AD in clinic- and community-based populations. Neurosci. Lett. 19249:1998;115-118.
50. Crawford F.C., Freeman M.J., Schinka J., Abdullah L.I., Richards D., Sevush S., Duara R., Mullan M.J. The genetic association between Cathepsin D and Alzheimer's disease. Neurosci. Lett. 289:2000;61-65.
51. Crawford F.C., Freeman M.J., Schinka J.A., Abdullah L.I., Gold M., Hartman R., Krivian K., Morris M.D., Richards D., Duara R., Anand R., Mullan M.J. A polymorphism in the cystatin C gene is a novel risk factor for late-onset Alzheimer's disease. Neurology. 55:2000;763-768.
52. Crook R., Verkkoniemi A., Perez-Tur J., Mehta N., Baker M., Houlden H., Farrer M., Hutton M., Lincoln S., Hardy J., Gwinn K., Somer M., Paetau A., Kalimo H., Ylikoski R., Poyhonen M., Kucera S., Haltia M. A variant of Alzheimer's disease with spastic paraparesis and unusual plaques due to deletion of exon 9 of presenilin 1. Nat. Med. 4:1998;452-455.
53. Cross A.J., Crow T.J., Ferrier I.N., Johnson J.A., Bloom S.R., Corsellis J.A. Serotonin receptor changes in dementia of the Alzheimer type. J. Neurochem. 43:1984;1574-1581.
54. Cruts M., Van Duijn C.M., Backhovens H., Van den Broeck M., Wehnert A., Serneels S., Sherrington R., Hutton M., Hardy J., St George-Hyslop P.H., Hofman A., Van Broeckhoven C. Estimation of the genetic contribution of presenilin-1 and -2 mutations in a population-based study of presenile Alzheimer disease. Hum. Mol. Genet. 7:1998;43-51.
55. Dahiyat M., Cumming A., Harrington C., Wischik C., Xuereb J., Corrigan F., Breen G., Shaw D., St Clair D. Association between Alzheimer's disease and the NOS3 gene. Ann. Neurol. 46:1999;664-667.
56. Das S., Potter H. Expression of the Alzheimer amyloid-promoting factor α1-antichymotrypsin is induced in human astrocytes by IL-1. Neuron. 14:1995;447-456.
57. Davies P., Maloney A.J. Selective loss of central cholinergic neurons in Alzheimer's disease. Lancet. 2:1976;1403.
58. De Jonghe C., Cruts M., Rogaeva E.A., Tysoe C., Singleton A., Vanderstichele H., Meschino W., Dermaut B., Vanderhoeven I., Backhovens H., Vanmechelen E., Morris C.M., Hardy J., Rubinsztein D.C., St George-Hyslop P.H., Van Broeckhoven C. Aberrant splicing in the presenilin-1 intron 4 mutation causes presenile Alzheimer's disease by increased Abeta42 secretion. Hum. Mol. Genet. 8:1999;1529-1540.
59. De Jonghe C., Esselens C., Kumar-Singh S., Craessaerts K., Serneels S., Checler F., Annaert W., Van Broeckhoven C., De Strooper B. Pathogenic APP mutations near the gamma-secretase cleavage site differentially affect Abeta secretion and APP C-terminal fragment stability. Hum. Mol. Genet. 10:2001;1665-1671.
60. De la Monte S.M., Bloch K.D. Aberrant expression of the constitutive endothelial nitric oxide synthase gene in Alzheimer disease. Mol. Chem. Neuropathol. 30:1997;139-159.
61. de la Torre J.C., Stefano G.B. Evidence that Alzheimer's disease is a microvascular disorder: the role of constitutive nitric oxide. Brain Res. Brain Res. Rev. 34:2000;119-136.
62. Dermaut B., Roks G., Theuns J., Rademakers R., Houwing-Duistermaat J.J., Serneels S., Hofman A., Breteler M.M., Cruts M., Van Broeckhoven C., Van Duijn C.M. Variable expression of presenilin 1 is not a major determinant of risk for late-onset Alzheimer's disease. J. Neurol. 248:2001;935-939.
63. Dodel R.C., Du Y., Bales K.R., Gao F., Eastwood B., Glazier B., Zimmer R., Cordell B., Hake A., Evans R., Gallagher-Thompson D., Thompson L.W., Tinklenberg J.R., Pfefferbaum A., Sullivan E.V., Yesavage J., Alstiel L., Gasser T., Farlow M.R., Murphy G.M. Jr., Paul S.M. Alpha2 macroglobulin and the risk of Alzheimer's disease. Neurology. 54:2000;438-442.
64. Dow D.J., Lindsey N., Cairns N.J., Brayne C., Robinson D., Huppert F.A., Paykel E.S., Xuereb J., Wilcock G., Whittaker J.L., Rubinsztein D.C. Alpha-2 macroglobulin polymorphism and Alzheimer disease risk in the UK. Nat. Genet. 22:1999;16-17.
65. Doyle C.A., Slater P. Localization of neuronal and endothelial nitric oxide synthase isoforms in human hippocampus. Neuroscience. 76:1997;387-395.
66. Eckman C.B., Mehta N.D., Crook R., Perez-tur J., Prihar G., Pfeiffer E., Graff-Radford N., Hinder P., Yager D., Zenk B., Refolo L.M., Prada C.M., Younkin S.G., Hutton M., Hardy J. A new pathogenic mutation in the APP gene (I716V) increases the relative proportion of A beta 42(43). Hum. Mol. Genet. 6:1997;2087-2089.
67. Edbauer D., Winkler E., Haass C., Steiner H. Presenilin and nicastrin regulate each other and determine amyloid beta-peptide production via complex formation. Proc. Natl. Acad. Sci. U.S.A. 99:2002;8666-8671.
68. Emahazion T., Feuk L., Jobs M., Sawyer S.L., Fredman D., St Clair D., Prince J.A., Brookes A.J. SNP association studies in Alzheimer's disease highlight problems for complex disease analysis. Trends Genet. 17:2001;407-413.
69. Ertekin-Taner N., Graff-Radford N., Younkin L.H., Eckman C., Baker M., Adamson J., Ronald J., Blangero J., Hutton M., Younkin S.G. Linkage of plasma Abeta42 to a quantitative locus on chromosome 10 in late-onset Alzheimer's disease pedigrees. Science. 290:2000;2303-2304.
70. Esler W.P., Kimberly W.T., Ostaszewski B.L., Diehl T.S., Moore C.L., Tsai J.Y., Rahmati T., Xia W., Selkoe D.J., Wolfe M.S. Transition-state analogue inhibitors of gamma-secretase bind directly to presenilin-1. Nat. Cell Biol. 2:2000;428-434.
71. Espinosa R. III, Lemons R.S., Perlman R.K., Kuo W.-L., Rosner M.R., Le Beau M.M. Localization of the gene encoding insulin-degrading enzyme to human chromosome 10; bands q23-q25. Cytogenet. Cell Genet. 57:1991;184-186.
72. Fallin D., Gauntlett A.C., Scibelli P., Cai X., Duara R., Gold M., Crawford F., Mullan M. No association between the very low density lipoprotein receptor gene and late-onset Alzheimer's disease nor interaction with the apolipoprotein E gene in population-based and clinic samples. Genet. Epidemiol. 14:1997;299-305.
73. Farrer L.A., Abraham C.R., Haines J.L., Rogaeva E.A., Song Y., McGraw W.T., Brindle N., Premkumar S., Scott W.K., Yamaoka L.H., Saunders A.M., Roses A.D., Auerbach S.A., Sorbi S., Duara R., Pericak-Vance M.A., St George-Hyslop P.H. Association between bleomycin hydrolase and Alzheimer's disease in Caucasians. Ann. Neurol. 44:1998;808-811.
74. Farrer L.A., Sherbatich T., Keryanov S.A., Korovaitseva G.I., Rogaeva E.A., Petruk S., Premkumar S., Moliaka Y., Song Y.Q., Pei Y., Sato C., Selezneva N.D., Voskresenskaya S., Golimbet V., Sorbi S., Duara R., Gavrilova S., St George-Hyslop P.H., Rogaev E.I. Association between angiotensin-converting enzyme and Alzheimer disease. Arch. Neurol. 57:2000;210-214.
75. Fidani L., Rooke K., Chartier-Harlin M.C., Hughes D., Tanzi R., Mullan M., Roques P., Rossor M., Hardy J., Goate A. Screening for mutations in the open reading frame and promoter of the beta-amyloid precursor protein gene in familial Alzheimer's disease: identification of a further family with APP717 Val → Ile. Hum. Mol. Genet. 1:1992;165-168.
76. Finckh U., Muller-Thomsen T., Mann U., Eggers C., Marksteiner J., Meins W., Binetti G., Alberici A., Hock C., Nitsch R.M., Gal A. High prevalence of pathogenic mutations in patients with early-onset dementia detected by sequence analyses of four different genes. Am. J. Hum. Genet. 66:2000;110-117.
77. Finckh U., Von der Kammer H., Velden J., Michel T., Andresen B., Deng A., Zhang J., Muller-Thomsen T., Zuchowski K., Menzer G., Mann U., Papassotiropoulos A., Heun R., Zurdel J., Holst F., Benussi L., Stoppe G., Reiss J., Miserez A.R., Staehelin H.B., Rebeck G.W., Hyman B.T., Binetti G., Hock C., Growdon J.H., Nitsch R.M. Genetic association of a cystatin C gene polymorphism with late-onset Alzheimer disease. Arch. Neurol. 57:2000;1579-1583.
78. Francis R., McGrath G., Zhangm J., Ruddy D.A., Sym M., Apfeld J., Nicoll M., Maxwell M., Hai B., Ellis M.C., Parks A.L., Xu W., Li J., Gurney M., Myers R.L., Himes C.S., Hiebsch R., Ruble C., Nye J.S., Curtis D. Aph-1 and pen-2 are required for Notch pathway signaling; gamma-secretase cleavage of betaAPP; and presenilin protein accumulation. Dev Cell. 3:2002;85-97.
79. Gibson A.M., Singleton A.B., Smith G., Woodward R., McKeith I.G., Perry R.H., Ince P.G., Ballard C.G., Edwardson J.A., Morris C.M. Lack of association of the alpha2-macroglobulin locus on chromosome 12 in AD. Neurology. 54:2000;433-438.
80. 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. 349:1991;704-706.
81. Goldgaber D., Lerman M.I., McBride O.W., Saffiotti U., Gajdusek D.C. Characterization and chromosomal localization of a cDNA encoding brain amyloid of Alzheimer's disease. Science. 235:1987;877-880.
82. Gomez-Ramos P., Bouras C., Moran M.A. Ultrastructural localization of butyrylcholinesterase on neurofibrillary degeneration sites in the brains of aged and Alzheimer's disease patients. Brain Res. 640:1994;17-24.
83. Gomez-Ramos P., Moran M.A. Ultrastructural localization of butyrylcholinesterase in senile plaques in the brains of aged and Alzheimer disease patients. Mol. Chem. Neuropathol. 30:1997;161-173.
84. Grabowski T.J., Cho H.S., Vonsattel J.P., Rebeck G.W., Greenberg S.M. Novel amyloid precursor protein mutation in an Iowa family with dementia and severe cerebral amyloid angiopathy. Ann. Neurol. 49:2001;697-705.
85. Guillozet A.L., Smiley J.F., Mash D.C., Mesulam M.M. Butyrylcholinesterase in the life cycle of amyloid plaques. Ann. Neurol. 42:1997;909-918.
86. Haass C., De Strooper B. The presenilins in Alzheimer's disease - proteolysis holds the key. Science. 286:1999;916-919.
87. Halimi G., Duplan L., Bideau C., Iniesta D., Berthezene P., Oddoze C., Verdier J.M., Michel B., Berge-Lefranc J.L. Association of APOE promoter but not A2M polymorphisms with risk of developing Alzheimer's disease. NeuroReport. 11:2000;3599-3601.
88. Hardy J. Amyloid the presenilins and Alzheimer's disease. Trends Neurosci. 20:1997;154-159.
89. Hatanaka Y., Kamino K., Fukuo K., Mitsuda N., Nishiwaki-Ueda Y., Sato N., Yamamoto H., Yoneda H., Imagawa M., Miki T., Ohta S., Ogihara T., Satoh T. Low density lipoprotein receptor-related protein gene polymorphisms and risk for late-onset Alzheimer's disease in a Japanese population. Clin. Genet. 58:2000;319-323.
90. Heils A., Teufel A., Petri S., Stober G., Riederer P., Bengel D., Lesch K.P. Allelic variation of human serotonin transporter gene expression. J. Neurochem. 66:1996;2612-2624.
91. Helbecque N., Amouyel P. Very low density lipoprotein receptor in Alzheimer disease. Microsc. Res. Technol. 50:2000;273-277.
92. Helbeque N., Richard F., Cottel D., Neuman E., Guez D., Amouyel P. The very low density lipoprotein (VLDL) receptor is a genetic susceptibility factor for Alzheimer disease in a European Caucasian population. Alzheimer Dis. Assoc. Dis. 12:1998;368-371.
93. Helisalmi S., Hiltunen M., Valonen P., Mannermaa A., Koivisto A.M., Lehtovirta M., Ryynanen M., Soininen H. Promoter polymorphism (-491A/T) in the APOE gene of Finnish Alzheimer's disease patients and control individuals. J. Neurol. 246:1999;821-824.
94. Hendriks L., Van Duijn C.M., Cras P., Cruts M., van Hul W., van Harskamp F., Warren A., McInnis M.G., Antonarakis S.E., Martin J.J., Hofman A., Van Broeckhoven C. Presenile dementia and cerebral haemorrhage linked to a mutation at codon 692 of the beta-amyloid precursor protein gene. Nat. Genet. 1:1992;218-221.
95. Hiltunen M., Mannermaa A., Helisalmi S., Koivisto A., Lehtovirta M., Ryynanen M., Riekkinen P. Sr., Soininen H. Butyrylcholinesterase K variant and apolipoprotein E4 genes do not act in synergy in Finnish late-onset Alzheimer's disease patients. Neurosci. Lett. 250:1998;69-71.
96. Hollenbach E., Ackermann S., Hyman B.T., Rebeck G.W. Confirmation of an association between a polymorphism in exon 3 of the low-density lipoprotein receptor-related protein gene and Alzheimer's disease. Neurology. 50:1998;1905-1907.
97. Holtzman D.M., Pitas R.E., Kilbridge J., Nathan B., Mahley R.W., Bu G., Schwartz A.L. Low density lipoprotein receptor-related protein mediates apolipoprotein E-dependent neurite outgrowth in a central nervous system-derived neuronal cell line. Proc. Natl. Acad. Sci. U.S.A. 92:1995;9480-9484.
98. Hu J., Igarashi A., Kamata M., Nakagawa H. Angiotensin-converting enzyme degrades Alzheimer amyloid beta-peptide (A beta) retards A beta aggregation; deposition; fibril formation and inhibits cytotoxicity. J. Biol. Chem. 21276:2001;47863-47868.
99. Hu J., Miyatake F., Aizu Y., Nakagawa H., Nakamura S., Tamaoka A., Takahash R., Urakami K., Shoji M. Angiotensin-converting enzyme genotype is associated with Alzheimer disease in the Japanese population. Neurosci. Lett. 277:1999;65-67.
100. Hu M., Retz W., Baader M., Pesold B., Adler G., Henn F.A., Rosler M., Thome J. Promoter polymorphism of the 5-HT transporter and Alzheimer's disease. Neurosci. Lett. 294:2000;63-65.
101. Hull M., Strauss S., Berger M., Volk B., Bauer J. Inflammatory mechanisms in Alzheimer's disease. Eur. Arch. Psychiat. Clin. Neurosci. 246:1996;124-128.
102. Hussain R.I., Ballard C.G., Edwardson J.A., Morris C.M. Transferrin gene polymorphism in Alzheimer's disease and dementia with Lewy bodies in humans. Neurosci. Lett. 317:2002;13-16.
103. Jarrett J., Berger E., Lansbury P. The carboxy terminus of the beta amyloid protein is critical for the seeding of amyloid formation: implications for the pathogenesis of Alzheimer's disease. Biochemistry. 32:1993;4693-4697.
104. Jiang S., Lin S., Tang G. The association between microsatellite polymorphism of alpha 1-antichymotrypsin gene and Alzheimer's disease. Zhonghua Yi Xue Za Zhi. 79:1999;610-612.
105. Johnston J.A., Cowburn R.F., Norgren S., Wiehager B., Venizelos N., Winblad B., Vigo-Pelfrey C., Schenk D., Lannfelt L., O'Neill C. Increased beta-amyloid release and levels of amyloid precursor protein (APP) in fibroblast cell lines from family members with the Swedish Alzheimer's disease APP670/671 mutation. FEBS Lett. 354:1994;274-278.
106. Kaether C., Lammich S., Edbauer D., Ertl M., Rietdorf J., Capell A., Steiner H., Haass C. Presenilin-1 affects trafficking and processing of betaAPP and is targeted in a complex with nicastrin to the plasma membrane. J. Cell Biol. 158:2002;551-561.
107. Kamboh M.I., Ferrell R.E., DeKosky S.T. Genetic association studies between Alzheimer's disease and two polymorphisms in the low density lipoprotein receptor-related protein gene. Neurosci. Lett. 244:1998;65-68.
108. *4-associated Alzheimer's disease risk is modified by α1-antichymotrypsin polymorphism. Nat. Genet. 10:1995;486-488.
109. Kamino K., Orr H.T., Payami H., Wijsman E.M., Alonso M.E., Pulst S.M., Anderson L., O'Dahl S., Nemens E., White J.A., Savovnick A.D., Ball M.J., Kaye J., Warren A., McInnis M., Antonarakis S.E., Korenberg J.R., Sharma V., Kukull W., Larson E., Heston L.L., Martin G.M., Bird T.D., Schellenberg G.D. Linkage and mutational analysis of familial Alzheimer's disease kindreds for the APP gene region. Am. J. Hum. Genet. 51:1992;998-1014.
110. Kang D.E., Saitoh T., Chen X., Xia Y., Masliah E., Hansen L.A., Thomas R.G., Thal L.J., Katzman R. Genetic association of the low-density lipoprotein receptor-related protein gene (LRP); an apolipoprotein E receptor; with late-onset Alzheimer's disease. Neurology. 49:1997;56-61.
111. Kang J., Lemaire H.-G., Unterbeck A., Salbaum J.M., Masters C.L., Grzescnik K.-H., Multhaup G., Beyreutherm K., Muller-Hill B. The precursor of Alzheimer's disease amyloid A4 protein resembles a cell-surface receptor. Nature. 325:1987;733-736.
112. Kehoe P.G., Russ C., McIlory S., Williams H., Holmans P., Holmes C., Liolitsa D., Vahidassr D., Powell J., McGleenon B., Liddell M., Plomin R., Dynan K., Williams N., Neal J., Cairns N.J., Wilcock G., Passmore P., Lovestone S., Williams J., Owen M.J. Variation in DCP1; encoding ACE; is associated with susceptibility to Alzheimer disease. Nat. Genet. 21:1999;71-72.
113. Kenessey A., Nacharaju P., Ko L.W., Yen S.H. Degradation of tau by lysosomal enzyme cathepsin D: implication for Alzheimer neurofibrillary degeneration. J. Neurochem. 69:1997;2026-2038.
114. Kim T.W., Pettingell W.H., Jung Y.K., Kovacs D.M., Tanzi R.E. Alternative cleavage of Alzheimer-associated presenilins during apoptosis by a caspase-3 family protease. Science. 277:1997;373-376.
115. Kitaguchi N., Takahashi Y., Tokushima Y., Shiojiri S., Ito H. Novel precursor of Alzheimer's disease amyloid protein shows protease inhibitory activity. Nature. 331:1988;530-532.
116. Koo E.H., Squazzo S.L. Evidence that production and release of amyloid beta-protein involves the endocytic pathway. J. Biol. Chem. 269:1994;17386-17389.
117. Kopan R., Goate A. Aph-2/Nicastrin: an essential component of gamma-secretase and regulator of Notch signaling and Presenilin localization. Neuron. 33:2002;321-324.
118. Kounnas M.Z., Moir R.D., Rebeck G.W., Bush A.I., Argraves W.S., Tanzi R.E., Hyman B.T., Strickland D.K. LDL receptor-related protein; a multifunctional ApoE receptor; binds secreted beta-amyloid precursor protein and mediates its degradation. Cell. 82:1995;331-340.
119. 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. Nat. Med. 2:1996;224-229.
120. Kunugi H., Ueki A., Otsuka M., Isse K., Hirasawa H., Kato N., Nabika T., Kobayashi S., Nanko S. Alzheimer's disease and 5-HTTLPR polymorphism of the serotonin transporter gene: no evidence for an association. Am. J. Med. Genet. 96:2000;307-309.
121. Lambert J.C., Araria-Goumidi L., Myllykangas L., Ellis C., Wang J.C., Bullido M.J., Harris J.M., Artiga M.J., Hernandez D., Kwon J.M., Frigard B., Petersen R.C., Cumming A.M., Pasquier F., Sastre I., Tienari P.J., Frank A., Sulkava R., Morris J.C., St Clair D., Mann D.M., Wavrant-DeVrieze F., Ezquerra-Trabalon M., Amouyel P., Hardy J., Haltia M., Valdivieso F., Goate A.M., Perez-Tur J., Lendon C.L., Chartier-Harlin M.C. Contribution of APOE promoter polymorphisms to Alzheimer's disease risk. Neurology. 59:2002;59-66.
122. Lambert J.C., Chartier-Harlin M.C., Cottel D., Richard F., Neuman E., Guez D., Legrain S., Berr C., Amouyel P., Helbecque N. Is the LDL receptor-related protein involved in Alzheimer's disease? Neurogenetics. 2:1999;109-113.
123. Lambert J.C., Goumidi L., Vrieze F.W., Frigard B., Harris J.M., Cummings A., Coates J., Pasquier F., Cottel D., Gaillac M., St Clair D., Mann D.M., Hardy J., Lendon C.L., Amouyel P., Chartier-Harlin M.C. The transcriptional factor LBP-1c/CP2/LSF gene on chromosome 12 is a genetic determinant of Alzheimer's disease. Hum. Mol. Genet. 9:2000;2275-2280.
124. Lambert J.C., Mann D.M., Harris J.M., Chartier-Harlin M.C., Cumming A., Coates J., Lemmon H., St Clair D., Iwatsubo T., Lendon C. The -48 C/T polymorphism in the presenilin 1 promoter is associated with an increased risk of developing Alzheimer's disease and an increased Abeta load in brain. J. Med. Genet. 38:2001;353-355.
125. Lambert J.C., Pasquier F., Cottel D., Frigard B., Amouyel P., Chartier-Harlin M.C. A new polymorphism in the APOE promoter associated with risk of developing Alzheimer's disease. Hum. Mol. Genet. 7:1998;533-540.
126. Lao J.I., Beyer K., Fernandez-Novoa L., Cacabelos R. A novel mutation in the predicted TM2 domain of the presenilin 2 gene in a Spanish patient with late-onset Alzheimer's disease. Neurogenetics. 1:1998;293-296.
127. Laws S.M., Hone E., Taddei K., Harper C., Dean B., McClean C., Masters C., Lautenschlager N., Gandy S.E., Martins R.N. Variation at the APOE -491 promoter locus is associated with altered brain levels of apolipoprotein E. Mol. Psychiatry. 7:2002;886-890.
128. Laws S.M., Taddei K., Fisher C., Small D., Clarnette R., Hallmayer J., Brooks W.S., Kwok J.B., Schofield P.R., Gandy S.E., Martins R.N. Evidence that the butyrylcholinesterase K variant can protect against late-onset Alzheimer disease. Alzheimer Rep. 2:1999;219-223.
129. Lee D.W., Liu H.C., Liu T.Y., Chi C.W., Hong C.J. No association between butyrylcholinesterase K-variant and Alzheimer disease in Chinese. Am. J. Med. Genet. 396:2000;167-169.
130. Lehmann D.J., Johnston C., Smith A.D. Synergy between the genes for butyrylcholinesterase K variant and apolipoprotein E4 in late-onset confirmed Alzheimer's disease. Hum. Mol. Genet. 6:1997;1933-1936.
131. Lendon C.L., Thaker U., Harris J.M., McDonagh A.M., Lambert J.C., Chartier-Harlin M.C., Iwatsubo T., Pickering-Brown S.M., Mann D.M. The angiotensin 1-converting enzyme insertion (I)/deletion (D) polymorphism does not influence the extent of amyloid or tau pathology in patients with sporadic Alzheimer's disease. Neurosci. Lett. 328:2002;314-318.
132. Lendon C.L., Talbot C.J., Craddock N.J., Han S.W., Wragg M., Morris J.C., Goate A.M. Genetic association studies between dementia of the Alzheimer's type and three receptors for apolipoprotein E in a Caucasian population. Neurosci. Lett. 222:1997;187-190.
133. Levy E., Sastre M., Kumar A., Gallo G., Piccardo P., Ghetti B., Tagliavini F. Codeposition of cystatin C with amyloid-beta protein in the brain of Alzheimer disease patients. J. Neuropathol. Exp. Neurol. 60:2001;94-104.
134. Levy-Lahad E., Lahad A., Wijsman E.M., Bird T.D., Schellenberg G.D. Apolipoprotein E genotypes and age of onset in early-onset familial Alzheimer's disease. Ann. Neurol. 38:1995;678-680.
135. Levy-Lahad E., Wasco W., Poorkaj P., Romano D.M., Oshima J., Pettigell W.H., Yu C., Jondro P.D., Schmidt S.D., Wang K., Crowley A.C., Fu Y.-H., Guenette S.y., Galas D., Nemens E., Wijsman E.M., Bird T.D., Schellenberg G.D., Tanzi R.E. Candidate gene for chromosome 1 familial Alzheimer's disease locus. Science. 269:1995;973-977.
136. Li T., Holmes C., Sham P.C., Vallada H., Birkett J., Kirov G., Lesch K.P., Powell J., Lovestone S., Collier D. Allelic functional variation of serotonin transporter expression is a susceptibility factor for late onset Alzheimer's disease. NeuroReport. 8:1997;683-686.
137. Liao A., Nitsch R.M., Greenberg S.M., Finckh U., Blacker D., Albert M., Rebeck G.W., Gomez-Isla T., Clatworthy A., Binetti G., Hock C., Mueller-Thomsen T., Mann U., Zuchowski K., Beisiegel U., Staehelin H., Growdon J.H., Tanzi R.E., Hyman B.T. Genetic association of an alpha2-macroglobulin (Val1000Ile) polymorphism and Alzheimer's disease. Hum. Mol. Genet. 7:1998;1953-1956.
138. Licastro F., Mallory M., Hansen L.A., Masliah E. Increased levels of alpha-1-antichymotrypsin in brains of patients with Alzheimer's disease correlate with activated astrocytes and are affected by APOE 4 genotype. J. Neuroimmunol. 88:1998;105-110.
139. Licastro F., Pedrini S., Covoni M., Pession A., Ferri C., Annoni G., Casadei V., Veglia F., Bertolini S., Grimaldi L.M. Apolipoprotein E and alpha-1-antichymotrypsin allele polymorphism in sporadic and familial Alzheimer's disease. Neurosci. Lett. 270:1999;129-132.
140. Licastro F., Pedrini S., Ferri C., Casadei V., Covoni M., Pession A., Sciacca F.L., Veglia F., Annoni G., Bonafe M., Olivieri F., Franceschi C., Grimaldi L.M. Gene polymorphism affecting alpha1-antichymotrypsin and interleukin-1 plasma levels increases Alzheimer's disease risk. Ann. Neurol. 48:2000;388-391.
141. Lieberman J., Schleissner L., Tachiki K.H., Kling A.S. Serum alpha 1-antichymotrypsin level as a marker for Alzheimer-type dementia. Neurobiol. Aging. 16:1995;747-753.
142. Lindholm D., Castren E., Kiefer R., Zafra F., Thoenen H. Transforming growth factor-beta 1 in the rat brain: increase after injury and inhibition of astrocyte proliferation. J. Cell Biol. 117:1992;395-400.
143. Lleo A., Blesa R., Genere J., Castelli M., Pastorm P., Queralt R., Oliva R. A novel presenilin 2 gene mutation (D439A) in a patient with early-onset Alzheimer's disease. Neurology. 57:2001;1926-1928.
144. Luedecking E.K., DeKosky S.T., Mehdi H., Ganguli M., Kamboh M.I. Analysis of genetic polymorphisms in the transforming growth factor-beta1 gene and the risk of Alzheimer's disease. Hum. Genet. 106:2000;565-569.
145. Lusis A.J., Heinzmann C., Sparkes R.S., Scott J., Knott T.J., Geller R., Sparkes M.C., Mohandas T. Regional mapping of human chromosome 19: organization of genes for plasma lipid transport (APOC1; -C2; and -E and LDLR) and the genes C3; PEPD; and GPI. Proc. Natl. Acad. Sci. U.S.A. 83:1986;3929-3933.
146. Ma J., Yee A., Brewer H.B. Jr., Das S., Potter H. Amyloid-associated proteins α1-antichymotrypsin and apolipoprotein E promote assembly of Alzheimer β-protein into filaments. Nature. 372:1994;92-94.
147. Mahley R.W. Apolipoprotein E: cholesterol transport protein with expanding role in cell biology. Science. 240:1988;622-630.
148. Mahley R.W., Rall S.C. Jr. Apolipoprotein E: far more than a lipid transport protein. Ann. Rev. Genomics Hum. Genet. 1:2000;507-537.
149. Mann D.M. Alzheimer's disease and Down's syndrome. Histopathology. 13:1988;125-127.
150. Mann D.M. The pathological association between Down syndrome and Alzheimer's disease. Mech. Age Dev. 43:1985;99-136.
151. Mann D.M., Pickering-Brown S.M., Bayatti N.N., Wright A.E., Owen F., Iwatsubo T., Saido T.C. An intronic polymorphism in the presenilin-1 gene does not influence the amount or molecular form of the amyloid beta protein deposited in Alzheimer's disease. Neurosci. Lett. 222:1997;57-60.
152. Marsden P.A., Heng H.H., Scherer S.W., Stewart R.J., Hall A.V., Shi X.M., Tsui L.C., Schappert K.T. Structure and chromosomal localization of the human constitutive endothelial nitric oxide synthase gene. J. Biol. Chem. 268:1993;17478-17488.
153. Maruyama H., Izumi Y., Oda M., Torii T., Morino H., Toji H., Sasaki K., Terasawa H., Nakamura S., Kawakami H. Lack of an association between cystatin C gene polymorphisms in Japanese patients with Alzheimer disease. Neurology. 57:2001;337-339.
154. Mateo I., Sanchez-Guerra M., Combarros O., Llorca J., Infante J., Gonzalez-Garcia J., del Molino J.P., Berciano J. Lack of association between cathepsin D genetic polymorphism and Alzheimer disease in a Spanish sample. Am. J. Med. Genet. 114:2002;31-33.
155. Matsubara E., Amari M., Shoji M., Harigaya Y., Yamaguchi H., Okamoto K., Hirai S. Serum concentration of alpha 1-antichymotrypsin is elevated in patients with senile dementia of the Alzheimer type. Prog. Clin. Biol. Res. 317:1989;707-714.
156. Matsubara E., Hirai S., Amari M., Shoji M., Yamaguchi H., Okamoto K., Ishiguro K., Harigaya Y., Wakabayashi K. Alpha 1-antichymotrypsin as a possible biochemical marker for Alzheimer-type dementia. Ann. Neurol. 28:1990;561-567.
157. Matsumura Y., Kitamura E., Miyoshi K., Yamamoto Y., Furuyama J., Sugihara T. Japanese siblings with missense mutation (717Val → Ile) in amyloid precursor protein of early-onset Alzheimer's disease. Neurology. 46:1996;1721-1723.
158. Mattila K.M., Rinne J.O., Roytta M., Laippala P., Pietila T., Kalimo H., Koivula T., Frey H., Lehtimaki T. Dipeptidyl carboxypeptidase 1 (DCP1) and butyrylcholinesterase (BCHE) gene interactions with the apolipoprotein E epsilon4 allele as risk factors in Alzheimer's disease and in Parkinson's disease with coexisting Alzheimer pathology. J. Med. Genet. 37:2000;766-770.
159. Mattson M.P., Barger S.W., Furukawa K., Bruce A.J., Wyss-Coray T., Mark R.J., Mucke L. Cellular signaling roles of TGF beta; TNF alpha and beta APP in brain injury responses and Alzheimer's disease. Brain. Res. Rev. 23:1997;47-61.
160. McIlroy S.P., Dynan K.B., McGleenon B.M., Lawson J.T., Passmore A.P. Cathepsin D gene exon 2 polymorphism and sporadic Alzheimer's disease. Neurosci. Lett. 273:1999;140-141.
161. McIlroy S.P., Dynan K.B., Vahidassr D.J., Lawson J.T., Patterson C.C., Passmore P. Common polymorphisms in LRP and A2M do not affect genetic risk for Alzheimer disease in Northern Ireland. Am. J. Med. Genet. 105:2001;502-506.
162. McIlroy S.P., Vahidassr M.D., Savage D.A., Patterson C.C., Lawson J.T., Passmore A.P. Risk of Alzheimer's disease is associated with a very low-density lipoprotein receptor genotype in Northern Ireland. Am. J. Med. Genet. 88:1999;140-144.
163. Meng G., Yuan J., An L., Gong J., Zhu H., Cui S., Yu Z., Hu G. An association study of polymorphisms in the alpha-antichymotrypsin gene for Alzheimer disease in Han-Chinese. Hum. Mutat. 16:2000;275-276.
164. Menzer G., Muller-Thomsen T., Meins W., Alberici A., Binetti G., Hock C., Nitsch R.M., Stoppe G., Reiss J., Finckh U. Non-replication of association between cathepsin D genotype and late onset Alzheimer disease. Am. J. Med. Genet. 105:2001;179-182.
165. Mesulam M.M., Geula C. Butyrylcholinesterase reactivity differentiates the amyloid plaques of aging from those of dementia. Ann. Neurol. 36:1994;722-727.
166. Milward E.A., Papadopoulos R., Fuller S.J., Moir R.D., Small D., Beyreuther K., Masters C.L. The amyloid protein precursor of Alzheimer's disease is a mediator of the effects of nerve growth factor on neurite outgrowth. Neuron. 9:1992;129-137.
167. Montoya S.E., Ferrell R.E., Lazo J.S. Genomic structure and genetic mapping of the human neutral cysteine protease bleomycin hydrolase. Cancer Res. 57:1997;4191-4195.
168. Montoya S.E., Aston C.E., DeKosky S.T., Kamboh M.I., Lazo J.S., Ferrell R.E. Bleomycin hydrolase is associated with risk of sporadic Alzheimer's disease. Nat. Genet. 18:1998;211-212.
169. Morgan K., Licastro F., Tilley L., Ritchie A., Morgan L., Pedrini S., Kalsheker N. Polymorphism in the alpha(1)-antichymotrypsin (ACT) gene promoter: effect on expression in transfected glial and liver cell lines and plasma ACT concentrations. Hum. Genet. 109:2001;303-310.
170. Morgan K., Morgan L., Carpenter K., Lowe J., Lam L., Cave S., Xuereb J., Wischik C., Harrington C., Kalsheker N.A. Microsatellite polymorphism of the alpha 1-antichymotrypsin gene locus associated with sporadic Alzheimer's disease. Hum. Genet. 99:1997;27-31.
171. Mori H. Untangling Alzheimer's disease from fibrous lesions of neurofibrillary tangles and senile plaques. Neuropathology. 20:2000;S55-S60.
172. Mui S., Briggs M., Chung H., Wallace R.B., Gomez-Isla T., Rebeck G.W., Hyman B.T. A newly identified polymorphism in the apolipoprotein E enhancer gene region is associated with Alzheimer's disease and strongly with the epsilon 4 allele. Neurology. 47:1996;196-201.
173. Mullan M., Crawford F., Axelman K., Houlden H., Lilius L., Winblad B., Lannfelt L. A pathogenic mutation for probable Alzheimer's disease in the APP gene at the N-terminus of β-amyloid. Nat. Genet. 1:1992;345-347.
174. Murayama M., Tanaka S., Palacino J., Murayama O., Honda T., Sun X., Yasutake K., Nihonmatsu N., Wolozin B., Takashima A. Direct association of presenilin-1 with beta-catenin. FEBS Lett. 433:1998;73-77.
175. Murrell J., Farlow M., Ghetti B., Benson M.D. A mutation in the amyloid precursor protein associated with hereditary Alzheimer's disease. Science. 254:1991;97-99.
176. Murrell J.R., Hake A.M., Quaid K.A., Farlow M.R., Ghetti B. Early-onset Alzheimer disease caused by a new mutation (V717L) in the amyloid precursor protein gene. Arch. Neurol. 57:2000;885-887.
177. Myers A., Holmans P., Marshall H., Kwon J., Meyer D., Ramic D., Shears S., Booth J., DeVrieze F.W., Crook R., Hamshere M., Abraham R., Tunstall N., Rice F., Carty S., Lillystone S., Kehoe P., Rudrasingham V., Jones L., Lovestone S., Perez-Tur J., Williams J., Owen M.J., Hardy J., Goate A.M. Susceptibility locus for Alzheimer's disease on chromosome 10. Science. 290:2000;2304-2305.
178. Myklebost O., Arheden K., Rogne S., Geurts van Kessel A., Mandahl N., Herz J., Stanley K., Heim S., Mitelman F. The gene for the human putative apoE receptor is on chromosome 12 in the segment q13-14. Genomics. 5:1989;65-69.
179. Nacmias B., Tedde A., Cellini E., Forleo P., Orlacchio A., Guarnieri B.M., Petruzzi C., D'Andrea F., Serio A., Sorbi S. Alpha2-macroglobulin polymorphisms in Italian sporadic and familial Alzheimer's disease. Neurosci. Lett. 299:2001;9-12.
180. Namba Y., Ouchi Y., Takeda A., Ueki A., Ikeda K. Bleomycin hydrolase immunoreactivity in senile plaque in the brains of patients with Alzheimer's disease. Brain Res. 830:1999;200-202.
181. Namekata K., Imagawa M., Terashi A., Ohta S., Oyama F., Ihara Y. Association of transferrin C2 allele with late-onset Alzheimer's disease. Hum. Genet. 101:1997;126-129.
182. Narain Y., Yip A., Murphy T., Brayne C., Easton D., Evans J.G., Xuereb J., Cairns N., Esiri M.M., Furlong R.A., Rubinsztein D.C. The ACE gene and Alzheimer's disease susceptibility. J. Med. Genet. 37:2000;695-697.
183. Near S.E., Wang J., Hegele R.A. Single nucleotide polymorphisms of the very low density lipoprotein receptor (VLDLR) gene. J. Hum. Genet. 46:2001;490-493.
184. Nilsberth C., Westlind-Danielsson A., Eckman C.B., Condron M.M., Axelman K., Forsell C., Stenh C., Luthman J., Teplowm D.B., Younkin S.G., Naslund J., Lannfelt L. The 'Arctic' APP mutation (E693G) causes Alzheimer's disease by enhanced Abeta protofibril formation. Nat. Neurosci. 4:2001;887-893.
185. Nishimoto I., Okamoto T., Matsuura Y., Takahashi S., Okamoto T., Murayama Y., Ogata E. Alzheimer amyloid protein precursor complexes with brain GTP-binding protein G(o). Nature. 362:1993;75-79.
186. Okuizumi K., Onodera O., Namba Y., Ikeda K., Yamamoto T., Seki K., Ueki A., Nanko S., Tanaka H., Takahashi H. Genetic association of the very low density lipoprotein (VLDL) receptor gene with sporadic Alzheimer's disease. Nat. Genet. 11:1995;207-209.
187. Okuizumi K., Onodera O., Seki K., Tanaka H., Namba Y., Ikeda K., Saunders A.M., Pericak-Vance M.A., Roses A.D., Tsuji S. Lack of association of very low density lipoprotein receptor gene polymorphism with Caucasian Alzheimer's disease. Ann. Neurol. 40:1996;251-254.
188. Olaisen B., Teisberg P., Gedde-Dahl T. Jr. The locus for apolipoprotein E (apoE) is linked to the complement component C3 (C3) locus on chromosome 19 in man. Hum. Genet. 62:1982;233-236.
189. Olichney J.M., Hansen L.A., Galasko D., Saitoh T., Hofstetter C.R., Katzman R., Thal L.J. The apolipoprotein E epsilon-4 allele is associated with increased neuritic plaques and cerebral amyloid angiopathy in Alzheimer's disease and Lewy body variant. Neurology. 47:1996;190-196.
190. Palsdottir A., Abrahamson M., Thorsteinsson L., Arnason A., Olafsson I., Grubb A., Jensson O. Mutation in cystatin C gene causes hereditary brain haemorrhage. Lancet. 2:1988;603-604.
191. Panegyres P.K., Mamotte C.D., Vasikaran S.D., Wilton S., Fabian V., Kakulas B.A. Butyrycholinesterase K variant and Alzheimer's disease. J. Neurol. 246:1999;369-370.
192. Papassotiropoulos A., Bagli M., Feder O., Jessen F., Maier W., Rao M.L., Ludwig M., Schwab S.G., Heun R. Genetic polymorphism of cathepsin D is strongly associated with the risk for developing sporadic Alzheimer's disease. Neurosci. Lett. 262:1999;171-174.
193. Papassotiropoulos A., Bagli M., Jessen F., Frahnert C., Rao M.L., Maier W., Heun R. Confirmation of the association between bleomycin hydrolase genotype and Alzheimer's disease. Mol. Psychiatry. 5:2000;213-215.
194. Papassotiropoulos A., Bagli M., Kurz A., Kornhuber J., Forstl H., Maier W., Pauls J., Lautenschlager N., Heun R. A genetic variation of cathepsin D is a major risk factor for Alzheimer's disease. Ann. Neurol. 47:2000;399-403.
195. Pasalar P., Najmabadi H., Noorianm A.R., Moghimi B., Jannati A., Soltanzadeh A., Krefft T., Crook R., Hardy J. An Iranian family with Alzheimer's disease caused by a novel APP mutation (Thr714Ala). Neurology. 58:2002;1574-1575.
196. Pasternack J.M., Abraham C.R., Van Dyke B.J., Potter H., Younkin S.G. Astrocytes in Alzheimer's disease gray matter express alpha 1-antichymotrypsin mRNA. Am. J. Pathol. 135:1989;827-834.
197. Payami H., Zareparsi S., Montee K.R., Sexton G.J., Kaye J.A., Bird T.D., Yu C.E., Wijsman E.M., Heston L.L., Litt M., Schellenberg G.D. Gender difference in apolipoprotein E-associated risk for Alzheimer disease: a possible due to the higher incidence of Alzheimer disease in women. Am. J. Hum. Genet. 58:1996;803-811.
198. Peacock M.L., Murman D.L., Sima A.A., Warren J.T., Roses A.T., Fink J.K. Novel amyloid precursor protein gene mutation (codon 665Asp) in a patient with late-onset Alzheimer's disease. Ann. Neurol. 35:1994;432-438.
199. Pellegrini L., Passer B.J., Tabaton M., Ganjei J.K., D'Adamio L. Alternative non-secretase processing of Alzheimer's beta-amyloid precursor protein during apoptosis by caspase-6 and -8. J. Biol. Chem. 274:1999;21011-21016.
200. Pérez-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., 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. A mutation in Alzheimer's disease destroying a splice acceptor site in the presenilin-1 gene. NeuroReport. 7:1995;297-301.
201. Pericak-Vance M.A., Bass M.P., Yamaoka L.H., Gaskell P.C., Scott W.K., Terwedow H.A., Menold M.M., Conneally P.M., Small G.W., Vance J.M., Saunders A.M., Roses A.D., Haines J.L. Complete genomic screen in late-onset familial Alzheimer disease. Evidence for a new locus on chromosome 12. JAMA. 278:1997;1237-1241.
202. Perry E.K., Perry R.H., Blessed G., Tomlinson B.E. Changes in brain cholinesterases in senile dementia of Alzheimer type. Neuropathol. Appl. Neurobiol. 4:1978;273-277.
203. Picken M.M., Larrondo-Lillo M., Coria F., Gallo G.R., Shelanski M.L., Frangione B. Distribution of the protease inhibitor alpha 1-antichymotrypsin in cerebral and systemic amyloid. J. Neuropathol. Exp. Neurol. 49:1990;41-48.
204. Pietrini P., Alexander G.E., Furey M.L., Hampel H., Guazzelli M. The neurometabolic landscape of cognitive decline: in vivo studies with positron emission tomography in Alzheimer's disease. Int. J. Psychophysiol. 37:2000;87-98.
205. Potter H., Wefes I.M., Nilsson L.N. The inflammation-induced pathological chaperones ACT and apo-E are necessary cata.ysts of Alzheimer amyloid formation. Neurobiol. Aging. 22:2001;923-930.
206. Prihar G., Fuldner R.A., Perez-Tur J., Lincoln S., Duff K., Crook R., Hardy J., Philips C.A., Venter C., Talbot C., Clark R.F., Goate A., Li J., Potter H., Karran E., Roberts G.W., Hutton M., Adams M.D. Structure and alternative splicing of the presenilin-2 gene. NeuroReport. 7:1996;1680-1684.
207. Pritchard M.L., Saunders A.M., Gaskell P.C., Small G.W., Conneally P.M., Rosi B., Yamaoka L.H., Roses A.D., Haines J.L., Pericak-Vance M.A. No association between very low density lipoprotein receptor (VLDL-R) and Alzheimer disease in American Caucasians. Neurosci. Lett. 209:1996;105-108.
208. Qiu Z., Strickland D.K., Hyman B.T., Rebeck G.W. Alpha2-macroglobulin enhances the clearance of endogenous soluble beta-amyloid peptide via low-density lipoprotein receptor-related protein in cortical neurons. J. Neurochem. 73:1999;1393-1398.
209. Rabin M., Watson M., Kidd V., Woo S.L., Breg W.R., Ruddle F.H. Regional location of alpha 1-antichymotrypsin and alpha 1-antitrypsin genes on human chromosome 14. Somat. Cell Mol. Genet. 12:1986;209-214.
210. Rebeck G.W., Cheung B.S., Growdon W.B., Deng A., Akuthota P., Locascio J., Greenberg S.M., Hyman B.T. Lack of independent associations of apolipoprotein E promoter and intron 1 polymorphisms with Alzheimer's disease. Neurosci. Lett. 272:1999;155-158.
211. Rebeck G.W., Harr S.D., Strickland D.K., Hyman B.T. Multiple, diverse senile plaque-associated proteins are ligands of an apolipoprotein E receptor, the alpha 2-macroglobulin receptor/low-density-lipoprotein receptor-related protein. Ann. Neurol. 37:1995;211-217.
212. Rebeck G.W., Reiter J.S., Strickland D.K., Hyman B.T. Apolipoprotein E in sporadic Alzheimer's disease: allelic variation and receptor interactions. Neuron. 11:1993;575-580.
213. Rogaev E.I., Sherrington R., Rogaeva E.A., Levesque G., Ikeda M., Liang Y., Chi H., Lin C., Holman K., Tsuda T. 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.
214. Rogaeva E.A., Fafel K.C., Song Y.Q., Medeiros H., Sato C., Liang Y., Richard E., Rogaev E.I., Frommelt P., Sadovnick A.D., Meschino W., Rockwood K., Boss M.A., Mayeux R., St George-Hyslop P. Screening for PS1 mutations in a referral-based series of AD cases: 21 novel mutations. Neurology. 57:2001;621-625.
215. Rogaeva E.A., Premkumar S., Grubber J., Serneels L., Scott W.K., Kawarai T., Song Y., Hill D.L., Abou-Donia S.M., Martin E.R., Vance J.J., Yu G., Orlacchio A., Pei Y., Nishimura M., Supala A., Roberge B., Saunders A.M., Roses A.D., Schmechel D., Crane-Gatherum A., Sorbi S., Bruni A., Small G.W., Pericak-Vance M.A. An alpha-2-macroglobulin insertion-deletion polymorphism in Alzheimer disease. Nat. Genet. 22:1999;19-22.
216. Roks G., Cruts M., Houwing-Duistermaat J.J., Dermaut B., Serneels S., Havekes L.M., Hofman A., Breteler M.M., Van Broeckhoven C., Van Duijn C.M. Effect of the APOE-491A/T promoter polymorphism on apolipoprotein E levels and risk of Alzheimer disease: the rotterdam study. Am. J. Med. Genet. 114:2002;570-573.
217. Rozemuller J.M., Stam F.C., Eikelenboom P. Acute phase proteins are present in amorphous plaques in the cerebral but not in the cerebellar cortex of patients with Alzheimer's disease. Neurosci. Lett. 119:1990;75-78.
218. Rudrasingham V., Wavrant-De Vrieze F., Lambert J.C., Chakraverty S., Kehoe P., Crook R., Amouyel P., Wu W., Rice F., Perez-Tur J., Frigard B., Morris J.C., Carty S., Petersen R., Cottel D., Tunstall N., Holmans P., Lovestone S., Chartier-Harlin M.C., Goate A., Hardy J., Owen M.J., Williams J. Alpha-2 macroglobulin gene and Alzheimer disease. Nat. Genet. 22:1999;17-19.
219. Sadik G., Kaji H., Takeda K., Yamagata F., Kameoka Y., Hashimoto K., Miyanaga K., Shinoda T. In vitro processing of amyloid precursor protein by cathepsin D. Int. J. Biochem. Cell Biol. 31:1999;1327-1337.
220. Saitoh T., Sundsmo M., Roch J.M., Kimura N., Cole G., Schubert D., Oltersdorf T., Schenk D.B. Secreted form of amyloid beta protein precursor is involved in the growth regulation of fibroblasts. Cell. 58:1989;615-622.
221. Sakai J., Hoshino A., Takahashi S., Miura Y., Ishii H., Suzuki H., Kawarabayasi Y., Yamamoto T. Structure, chromosome location; and expression of the human very low density lipoprotein receptor gene. J. Biol. Chem. 269:1994;2173-2182.
222. Sanan D.A., Weisgreber K.H., Russell S.J., Mahley R.W., Huang D., Saunders A., Schmechel D., Wisniewski T., Frangione B., Roses A., Strittmatter W. Apolipoprotein E associates with β-amyloid peptide of Alzheimer's disease to form novel monofibrils. Isoform ApoE4 associates more efficiently than ApoE3. J. Clin. Invest. 94:1994;860-869.
223. Satoh J., Kuroda Y. Beta-catenin expression in human neural cell lines following exposure to cytokines and growth factors. Neuropathology. 20:2000;113-123.
224. Saura C.A., Tomita T., Soriano S., Takahashi M., Leem J.Y., Honda T., Koo E.H., Iwatsubo T., Thinakaran G. The nonconserved hydrophilic loop domain of presenilin (PS) is not required for PS endoproteolysis or enhanced abeta 42 production mediated by familial early onset Alzheimer's disease-linked PS variants. J. Biol. Chem. 275:2000;17136-17142.
225. Schachter F., Faure-Delanef L., Guenot F., Rouger H., Froguel P., Lesueur-Ginot L., Cohen D. Genetic associations with human longevity at the APOE and ACE loci. Nat. Genet. 6:1994;29-32.
226. Schellenberg G.D. Progress in Alzheimer's disease genetics. Curr. Opin. Neurol. 8:1995;262-267.
227. Schunkert H. Polymorphism of the angiotensin-converting enzyme gene and cardiovascular disease. J. Mol. Med. 75:1997;867-875.
228. Selkoe D.J. Normal and abnormal biology of the beta-amyloid precursor protein. Ann. Rev. Neurosci. 17:1994;489-517.
229. Shastry B.S., Giblin F.J. Genes and susceptible loci of Alzheimer's disease. Brain Res. Bull. 48:1999;121-127.
230. 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.
231. Sherrington R., Rogaev E.I., Liang Y., Rogava E.A., Levesque G., Ikeda M., Chi H., Lin C., Li G., Holman K. Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease. Nature. 375:1995;754-760.
232. Siest G., Pillot G., Régis-Bailly A., Leininger-Muller B., Steinmetz J., Galteau M.-M., Visvikis S. Apolipoprotein E: an important gene and protein to follow in laboratory medicine. Clin. Chem. 41:1995;1068-1086.
233. Singleton A.B., Smith G., Gibson A.M., Woodward R., Perry R.H., Ince P.G., Edwardson J.A., Morris C.M. No association between the K variant of the butyrylcholinesterase gene and pathologically confirmed Alzheimer's disease. Hum. Mol. Genet. 7:1998;937-939.
234. Sodeyama N., Yamada M., Itoh Y., Suematsu N., Matsushita M., Otomo E., Mizusawa H. Alpha2-macroglobulin polymorphism is not associated with AD or AD-type neuropathology in the Japanese. Neurology. 54:2000;443-446.
235. Sorbi S., Nacmias B., Forleo P., Piacentini S., Amaducci L., Provinciali L. APP717 and Alzheimer's disease in Italy. Nat. Genet. 4:1993;10.
236. Sorbi S., Nacmias B., Piacentini S., Latorraca S., Amaducci L. Epistatic effect of APP 717 mutation and apolipoprotein E genotype in familial Alzheimer's disease. Ann. Neurol. 38:1995;124-127.
237. St George-Hyslop P.H., Tanzi R.E., Polinsky R.J., Haines J.L., Nee L., Watkins P.C., Myers R.H., Feldman R.G., Pollen D., Drachman D. The genetic defect causing familial Alzheimer's disease maps on chromosome 21. Science. 235:1987;885-890.
238. Strittmatter W.J., Weisgraber K.H., Huang D.Y., Dong L.-M., Salvesen G.S., Pericak-Vance M., Schmechel D., Saunders A.M., Goldgaber D., Roses A.D. Binding of human apolipoprotein E to synthetic amyloid beta peptide: isoform-specific effects and implications for late-onset Alzheimer disease. Proc. Natl. Acad. Sci. U.S.A. 90:1993;8098-8102.
239. Strittmatter W.J., Weisgraber K.H., Goedert M., Saunders A.M., Huang D., Corder E.H., Dong L.M., Jakes R., Alberts M.J., Gilbert J.R., Han S.-H., Hulette C., Einstein G., Schmechel D.E., Pericak-Vance M.A., Roses A.D. Hypothesis: microtubule instability and paired helical filament formation in the Alzheimer disease brain are related to apolipoprotein E genotype. Exp. Neurol. 125:1994;163-171.
240. Sudoh S., Kawamura Y., Sato S., Wang R., Saido T.C., Oyama F., Sakaki Y., Komano H., Yanagisawa K. Presenilin 1 mutations linked to familial Alzheimer's disease increase the intracellular levels of amyloid beta-protein 1-42 and its N-terminally truncated variant(s) which are generated at distinct sites. J. Neurochem. 71:1998;1535-1543.
241. Suzuki N., Cheung T., Cai X.-D., Okada A., Otvos L. Jr., Eckman C., Golde T.E., Younkin S.G. An increased percentage of long amyloid-beta protein secreted by familial amyloid-beta protein precursor (APP717) mutants. Science. 264:1994;1336-1340.
242. Talbot C., Houlden H., Craddock N., Crook R., Hutton M., Lendon C., Prihar G., Morris J.C., Hardy J., Goate A. Polymorphism in AACT gene may lower age of onset of Alzheimer's disease. NeuroReport. 7:1996;534-536.
243. Tanzi R.E., Gusella J.F., Watkins P.C., Bruns G.A., St George-Hyslop P., Van Keuren M.L., Patterson D., Pagan S., Kurnit D.M., Neve R.L. Amyloid beta protein gene: cDNA mRNA distribution and genetic linkage near the Alzheimer locus. Science. 235:1987;880-884.
244. Taylor A.E., Yip A., Brayne C., Easton D., Evans J.G., Xuereb J., Cairns N., Esiri M.M., Rubinsztein D.C. Genetic association of an LBP-1c/CP2/LSF gene polymorphism with late onset Alzheimer's disease. J. Med. Genet. 38:2001;232-233.
245. Tejani-Butt S.M., Yang J., Pawlyk A.C. Altered serotonin transporter sites in Alzheimer's disease raphe and hippocampus. NeuroReport. 6:1995;1207-1210.
246. Tesco G., Kim T.W., Diehlmann A., Beyreuther K., Tanzi R.E. Abrogation of the presenilin 1/beta-catenin interaction and preservation of the heterodimeric presenilin 1 complex following caspase activation. J. Biol. Chem. 273:1998;33909-33914.
247. Theuns J., Del-Favero J., Dermaut B., Van Duijn C.M., Backhovens H., Van den Broeck M.V., Serneels S., Corsmit E., Van Broeckhoven C.V., Cruts M. Genetic variability in the regulatory region of presenilin 1 associated with risk for Alzheimer's disease and variable expression. Hum. Mol. Genet. 9:2000;325-331.
248. Theuns J., Van Broeckhoven C. Transcriptional regulation of Alzheimer's disease genes: implications for susceptibility. Hum. Mol. Genet. 9:2000;2383-2394.
249. Thinakaran G., Harris C.L., Ratovitski T., Davenport F., Slunt H.H., Price D.L., Borchelt D.R., Sisodia S.S. Evidence that levels of presenilins (PS1 and PS2) are coordinately regulated by competition for limiting cellular factors. J. Biol. Chem. 272:1997;28415-28422.
250. Thome J., Gewirtz J.C., Sakai N., Zachariou V., Retz-Junginger P., Retz W., Duman R.S., Rosler M. Polymorphisms of the human apolipoprotein E promoter and bleomycin hydrolase gene: risk factors for Alzheimer's dementia? Neurosci. Lett. 274:1999;37-40.
251. Tilley L., Morgan K., Grainger J., Marsters P., Morgan L., Lowe J., Xuereb J., Wischik C., Harrington C., Kalsheker N. Evaluation of polymorphisms in the presenilin-1 gene and the butyrylcholinesterase gene as risk factors in sporadic Alzheimer's disease. Eur. J. Hum. Genet. 7:1999;659-663.
252. Touitou I., Capony F., Brouillet J.P., Rochefort H. Missense polymorphism (C/T224) in the human cathepsin D pro-fragment determined by polymerase chain reaction - single strand conformational polymorphism analysis and possible consequences in cancer cells. Eur. J. Cancer. 30:1994;390-394.
253. Tsai S.J., Hong C.J., Liu T.Y., Cheng C.Y., Liu H.C. Association study for a functional serotonin transporter gene polymorphism and late-onset Alzheimer's disease for Chinese patients. Neuropsychobiology. 44:2001;27-30.
254. Tysoe C., Whittaker J., Xuereb J., Cairns N.J., Cruts M., Van Broeckhoven C., Wilcock G., Rubinsztein D.C. A presenilin-1 truncating mutation is present in two cases with autopsy-confirmed early-onset Alzheimer disease. Am. J. Hum. Genet. 62:1998;70-76.
255. Utermann G., Pruin N., Steinmetz A. Polymorphism of apolipoprotein E. III. Effect of a single polymorphic gene locus on plasma lipid levels in man. Clin. Genet. 15:1979;63-72.
256. Van Broeckhoven C., Backhovens H., Cruts M. Mapping of a gene predisposing to early onset Alzheimer's disease to chromosome 14q24.3. Nat. Genet. 2:1992;335-339.
257. Van Broeckhoven C., Backhovens H., Cruts M., Martin J.J., Crook R., Houlden H., Hardyn J. APOE genotype does not modulate age of onset in families with chromosome 14 encoded Alzheimer's disease. Neurosci. Lett. 169:1994;179-180.
258. Van Broeckhoven C., Haan J., Bakker E., Hardy J.A., Van Hul W., Wehnert A., Vegter-Van der Vlis M., Roos R.A. Amyloid beta protein precursor gene and hereditary cerebral hemorrhage with amyloidosis (Dutch). Science. 248:1990;1120-1122.
259. Van Duijn C.M., Cruts M., Theuns J., Van Gassen G., Backhovens H., Van Den Broeck M., Wehnert A., Serneels S., Hofman A., Van Broeckhoven C. Genetic association of the presenilin-1 regulatory region with early-onset Alzheimer's disease in a population-based sample. Eur. J. Hum. Genet. 7:1999;801-806.
260. Van Rensburg S.J., Carstens M.E., Potocnik F.C., Aucamp A.K., Taljaard J.J. Increased frequency of the transferrin C2 subtype in Alzheimer's disease. NeuroReport. 4:1993;1269-1271.
261. Van Rensburg S.J., Potocnik F.C., De Villiers J.N., Kotze M.J., Taljaard J.J. Earlier age of onset of Alzheimer's disease in patients with both the transferrin C2 and apolipoprotein E-epsilon 4 alleles. Ann. N.Y. Acad. Sci. 903:2000;200-203.
262. Vancea J.E., Campenotb R.B., Vancec D.E. The synthesis and transport of lipids for axonal growth and nerve regeneration. Biochim. Biophys. Acta. 1486:2000;84-96.
263. Vekrellis K., Ye Z., Qiu W.Q., Walsh D., Hartley D., Chesneau V., Rosner M.R., Selkoe D.J. Neurons regulate extracellular levels of amyloid beta-protein via proteolysis by insulin-degrading enzyme. J. Neurosci. 20:2000;1657-1665.
264. Verpillat P., Bouley S., Campion D., Hannequin D., Dubois B., Belliard S., Puel M., Thomas-Anterion C., Agid Y., Brice A., Clerget-Darpoux F. Use of haplotype information to test involvement of the LRP gene in Alzheimer's disease in the French population. Eur. J. Hum. Genet. 9:2001;464-468.
265. Villa A., Latasa M.J., Pascual A. Nerve growth factor modulates the expression and secretion of beta-amyloid precursor protein through different mechanisms in PC12 cells. J. Neurochem. 77:2001;1077-1084.
266. Walter J., Schindzielorz A., Grunberg J., Haass C. Phosphorylation of presenilin-2 regulates its cleavage by caspases and retards progression of apoptosis. Proc. Natl. Acad. Sci. U.S.A. 96:1999;1391-1396.
267. Wang X., DeKosky S.T., Luedecking-Zimmer E., Ganguli M., Kamboh I.M. Genetic variation in alpha(1)-antichymotrypsin and its association with Alzheimer's disease. Hum. Genet. 110:2002;356-365.
268. Wang X., Luedecking E.K., Minster R.L., Ganguli M., DeKosky S.T., Kamboh M.I. Lack of association between alpha2-macroglobulin polymorphisms and Alzheimer's disease. Hum. Genet. 108:2001;105-108.
269. Wang Z.Z., Jensson O., Thorsteinsson L., Vinters H.V. Microvascular degeneration in hereditary cystatin C amyloid angiopathy of the brain. APMIS. 105:1997;41-47.
270. Warfel A.H., Zucker-Franklin D., Frangione B., Ghiso J. Constitutive secretion of cystatin C (gamma-trace) by monocytes and macrophages and its downregulation after stimulation. J. Exp. Med. 166:1987;1912-1917.
271. Wavrant-De Vrieze F., Crook R., Holmans P., Kehoe P., Owen M.J., Williams J., Roehl K., Laliiri D.K., Shears S., Booth J., Wu W., Goate A., Chartier-Harlin M.C., Hardy J., Perez-Tur J. Genetic variability at the amyloid-beta precursor protein locus may contribute to the risk of late-onset Alzheimer's disease. Neurosci. Lett. 269:1999;67-70.
272. Weidemann A., Paliga K., Drwang U., Reinhard F.B., Schuckert O., Evin G., Masters C.L. Proteolytic processing of the Alzheimer's disease amyloid precursor protein within its cytoplasmic domain by caspase-like proteases. J. Biol. Chem. 274:1999;5823-5829.
273. Weihl C.C., Miller R.J., Roos R.P. The role of beta-catenin stability in mutant PS1-associated apoptosis. NeuroReport. 10:1999;2527-2532.
274. Wiebusch H., Poirier J., Sevigny P., Schappert K. Further evidence for a synergistic association between APOE epsilon4 and BCHE-K in confirmed Alzheimer's disease. Hum. Genet. 104:1999;158-163.
275. Wiesgraber K.H. Apolipoprotein E: structure-function relationships. Adv. Prot. Chem. 45:1994;249-320.
276. Wisniewski K.E., Dalton A.J., Crapper-McLachlan D.R., Wen G.Y., Wisniewski H.M. Alzheimer's disease in Down's syndrome: clinicopathologic studies. Neurology. 35:1985;957-961.
277. Wolfe M.S., Xia W., Ostaszewski B.L., Diehl T.S., Kimberly W.T., Selkoe D. Two transmembrane aspartates in presenilin-1 required for presenilin endoproteolysis and gamma-secretase activity. Nature. 398:1999;513-517.
278. Wong C.T., Saha N. Effects of transferrin genetic phenotypes on total iron-binding capacity. Acta Haematol. 75:1986;215-218.
279. Wragg M., Hutton M., Talbot C. The Alzheimer's disease collaborative group. Genetic association between intronic polymorphism in presenilin-1 gene and late-onset Alzheimer's disease. Lancet. 347:1996;509-512.
280. Wright J.W., Harding J.W. Regulatory role of brain angiotensins in the control of physiological and behavioral responses. Brain Res. Brain Res. Rev. 17:1992;227-262.
281. Wyss-Coray T., Yan F., Lin A.H., Lambris J.D., Alexander J.J., Quigg R.J., Masliah E. Prominent neurodegeneration and increased plaque formation in complement-inhibited Alzheimer's mice. Proc. Natl. Acad. Sci. U.S.A. 99:2002;10837-10842.
282. Yamanaka H., Kamimura K., Tanahashi H., Takahashi K., Asada T., Tabira T. Genetic risk factors in Japanese Alzheimer's disease patients: alpha1-ACT; VLDLR; and ApoE. Neurobiol. Aging. 19:1998;43-46.
283. Yang J.D., Feng G., Zhang J., Lin Z.X., Shen T., Breen G., St Clair D., He L. Association between angiotensin-converting enzyme gene and late onset Alzheimer's disease in Han chinese. Neurosci. Lett. 295:2000;41-44.
284. Yoshiiwa A., Kamino K., Yamamoto H., Kobayashi T., Imagawa M., Nonomura Y., Yoneda H., Sakai T., Nishiwaki Y., Sato N., Rakugi H., Miki T., Ogihara T. Alpha 1-antichymotrypsin as a risk modifier for late-onset Alzheimer's disease in Japanese apolipoprotein E epsilon 4 allele carriers. Ann. Neurol. 42:1997;115-117.
285. Yoshikai S., Sasaki H., Doh-ura K., Furuya H., Sakaki Y. Genomic organization of the human amyloid beta-protein precursor gene. Gene. 87:1990;257-263.
286. Yoshioka K., Miki T., Katsuya T., Ogihara T., Sakaki Y. The 717Val → Ile substitution in amyloid precursor protein is associated with familial Alzheimer's disease regardless of ethnic groups. Biochem. Biophys. Res. Commun. 178:1991;1141-1146.
287. Yoshizawa T., Komatsuzaki Y., Iwamoto H., Mizusawa H., Kanazawa I. Screening of the mis-sense mutation producing the 717Val → Ile substitution in the amyloid precursor protein in Japanese familial and sporadic Alzheimer's disease. J. Neurol. Sci. 117:1993;12-15.
288. Yu G., Nishimura M., Arawaka S., Levitan D., Zhang L., Tandon A., Song Y.Q., Rogaeva E., Chen F., Kawarai T., Supala A., Levesque L., Yu H., Yang D.S., Holmes E., Milman P., Liang Y., Zhang D.M., Xu D.H., Sato C., Rogaev E., Smith M., Janus C., Zhang Y., Aebersold R., Farrer L.S., Sorbi S., Bruni A., Fraser P., St George-Hyslop P. Nicastrin modulates presenilin-mediated notch/glp-1 signal transduction and betaAPP processing. Nature. 407:2000;48-54.
289. Zannis V.I., Just P.W., Breslow J.L. Human apolipoprotein E isoprotein subclasses are genetically determined. Am. J. Hum. Genet. 33:1981;11-24.
290. Zhang Z., Hartmann H., Do V.M., Abramowski D., Sturchler-Pierrat C., Staufenbiel M., Sommer B., van de Wetering M., Clevers H., Saftig P., DeStrooper B., He X., Yankner B.A. Destabilization of beta-catenin by mutations in presenilin-1 potentiates neuronal apoptosis. Nature. 395:1998;698-702.
291. Zhou J., Liyanage U., Medina M., Ho C., Simmons A.D. Presenilis 1 interaction in the brain with a novel member of the Armadillo family. NeuroReport. 8:1997;2085-2090.
292. Zill P., Engel R., Hampel H., Behrens S., Burger K., Padberg F., Stubner S., Moller H.J., Ackenheil M., Bondy B. Polymorphisms in the apolipoprotein E (APOE) gene in gerontopsychiatric patients. Eur. Arch. Psychiatry Clin. Neurosci. 251:2001;24-28.