Structural and functional characterization of H2 haplotype MAPT promoter: Unique neurospecific domains and a hypoxia-inducible element would enhance rationally targeted tauopathy research for Alzheimer's disease

Gene

Volumn 501, Issue 1, 2012, Pages 63-78

  Maloney, Bryan ^a   Lahiri, Debomoy K ^a  

^a INDIANA UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Cell type specificity; Gene regulation; H2 haplotype; Neurofibrillary tangles; Promoter; Tau

Indexed keywords

ALZHEIMER DISEASE; ARTICLE; GEL MOBILITY SHIFT ASSAY; GENE; GENE CONTROL; GENE DELETION; GENE FUNCTION; GENE MAPPING; GENE SEQUENCE; GENE STRUCTURE; HAPLOTYPE; HUMAN; MAPT GENE; MOLECULAR CLONING; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN DNA INTERACTION; PROTEIN DOMAIN; RHESUS MONKEY; SEQUENCE HOMOLOGY; SPECIES COMPARISON; TAUOPATHY; UNTRANSLATED REGION;

5' UNTRANSLATED REGIONS; ALZHEIMER DISEASE; ANIMALS; ANOXIA; BASE SEQUENCE; DNA PRIMERS; ELECTROPHORETIC MOBILITY SHIFT ASSAY; HAPLOTYPES; HUMANS; MICE; MOLECULAR SEQUENCE DATA; PROMOTER REGIONS, GENETIC; TAU PROTEINS;

MACACA MULATTA;

EID: 84860571875     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2012.01.049     Document Type: Article

References (98)

1. Adamec E., Chang H.T., Stopa E.G., Hedreen J.C., Vonsattel J.P. Tau protein expression in frontotemporal dementias. Neurosci. Lett. 2001, 315:21-24.
2. Alonso A.C., Grundke-Iqbal I., Iqbal K. Alzheimer's disease hyperphosphorylated tau sequesters normal tau into tangles of filaments and disassembles microtubules. Nat. Med. 1996, 2:783-787.
3. Andreadis A., Brown W.M., Kosik K.S. Structure and novel exons of the human tau gene. Biochemistry 1992, 31:10626-10633.
4. Andreadis A., Wagner B.K., Broderick J.A., Kosik K.S. A tau promoter region without neuronal specificity. J. Neurochem. 1996, 66:2257-2263.
5. Bailey J.A., Maloney B., Ge Y.W., Lahiri D.K. Functional activity of the novel Alzheimer's amyloid beta-peptide interacting domain (AβID) in the APP and BACE1 promoter sequences and implications in activating apoptotic genes and in amyloidogenesis. Gene 2011, 488:13-22.
6. Baker M., et al. Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17. Nature 2006, 442:916-919.
7. Bales K.R., Du Y., Holtzman D., Cordell B., Paul S.M. Neuroinflammation and Alzheimer's disease: critical roles for cytokine/Abeta-induced glial activation, NF-kappaB, and apolipoprotein E. Neurobiol. Aging 2000, 21:427-432.
8. Belarbi K., et al. Loss of Medial Septum Cholinergic Neurons in THY-Tau22 Mouse Model: What Links with tau Pathology?. Curr. Alzheimer Res. 2011, 8:633-638.
9. Borchsenius F. FastGap 1.2 http://192.38.46.42/aubot/fb/FastGap_home.htm.
10. Borroni B., Grassi M., Archetti S., Papetti A., Del Bo R., Bonvicini C., Comi G.P., Gennarelli M., Bellelli G., Di Luca M., Padovani A. Genetic Background Predicts Poor Prognosis in Frontotemporal Lobar Degeneration. Neurodegener Dis 2011.
11. Brodaty H., Breteler M.M., Dekosky S.T., Dorenlot P., Fratiglioni L., Hock C., Kenigsberg P.A., Scheltens P., De Strooper B. The World of Dementia Beyond 2020. J. Am. Geriatr. Soc. 2011, 59:923-927.
12. Chen N. Using RepeatMasker to identify repetitive elements in genomic sequences. Curr. Protoc. Bioinformatics 2004, Chapter 4, p. Unit 4 10.
13. Chen S., Townsend K., Goldberg T.E., Davies P., Conejero-Goldberg C. MAPT isoforms: differential transcriptional profiles related to 3R and 4R splice variants. J. Alzheimers Dis. 2010, 22:1313-1329.
14. Cruts M., Rademakers R., Gijselinck I., van der Zee J., Dermaut B., de Pooter T., de Rijk P., Del-Favero J., van Broeckhoven C. Genomic architecture of human 17q21 linked to frontotemporal dementia uncovers a highly homologous family of low-copy repeats in the tau region. Hum. Mol. Genet. 2005, 14:1753-1762.
15. de Mendiburu F. Agricolae: Practical Manual http://tarwi.lamolina.edu.pe/~fmendiburu/index-filer/download/PracticalManualAgricolae.pdf.
16. De Strooper B. Proteases and proteolysis in Alzheimer disease: a multifactorial view on the disease process. Physiol. Rev. 2010, 90:465-494.
17. Delacourte A. Tau pathology and neurodegeneration: an obvious but misunderstood link. J. Alzheimers Dis. 2008, 14:437-440.
18. Deshane J., Kim J., Bolisetty S., Hock T.D., Hill-Kapturczak N., Agarwal A. Sp1 regulates chromatin looping between an intronic enhancer and distal promoter of the human heme oxygenase-1 gene in renal cells. J. Biol. Chem. 2010, 285:16476-16486.
19. Dixit R., Ross J.L., Goldman Y.E., Holzbaur E.L. Differential regulation of dynein and kinesin motor proteins by tau. Science 2008, 319:1086-1089.
20. Donnelly M.P., Paschou P., Grigorenko E., Gurwitz D., Mehdi S.Q., Kajuna S.L., Barta C., Kungulilo S., Karoma N.J., Lu R.B., Zhukova O.V., Kim J.J., Comas D., Siniscalco M., New M., Li P., Li H., Manolopoulos V.G., Speed W.C., Rajeevan H., Pakstis A.J., Kidd J.R., Kidd K.K. The distribution and most recent common ancestor of the 17q21 inversion in humans. Am. J. Hum. Genet. 2010, 86:161-171.
21. Dosunmu R., Wu J., Adwan L., Maloney B., Basha M.R., McPherson C.A., Harry G.J., Rice D.C., Zawia N.H., Lahiri D.K. Lifespan profiles of Alzheimer's disease-associated genes and products in monkeys and mice. J. Alzheimers Dis. 2009, 18:211-230.
22. Du Y., Chen X., Wei X., Bales K.R., Berg D.T., Paul S.M., Farlow M.R., Maloney B., Ge Y.W., Lahiri D.K. NF-(kappa)B mediates amyloid beta peptide-stimulated activity of the human apolipoprotein E gene promoter in human astroglial cells. Brain Res. Mol. Brain Res. 2005, 136:177-188.
23. Duff K., Kuret J., Congdon E.E. Disaggregation of tau as a therapeutic approach to tauopathies. Curr. Alzheimer Res. 2010, 7:235-240.
24. Dugger B.N., Tu M., Murray M.E., Dickson D.W. Disease specificity and pathologic progression of tau pathology in brainstem nuclei of Alzheimer's disease and progressive supranuclear palsy. Neurosci. Lett. 2011, 491:122-126.
25. Fink W.L. Microcomputers and phylogenetic analysis. Science 1986, 234:1135-1139.
26. Fletcher W., Yang Z. The effect of insertions, deletions, and alignment errors on the branch-site test of positive selection. Mol. Biol. Evol. 2010, 27:2257-2267.
27. Ge Y.-W., Ghosh M., Song W., Maloney B., Lahiri D. Mechanism of promoter activity of the beta-amyloid precursor protein gene in different cell types. Identification of a specific 30 bp fragment in the proximal promoter region. J. Neurochem. 2004, 90:1432-1444.
28. Ge Y.-W., Maloney B., Sambamurti K., Lahiri D.K. Functional characterization of the 5' flanking region of the BACE gene: identification of a 91 bp fragment involved in basal level of BACE promoter expression. FASEB J. 2004, 18:1037-1039.
29. Ghosh C., Song W., Lahiri D.K. Efficient DNA transfection in neuronal and astrocytic cell lines. Mol. Biol. Rep. 2000, 27:113-121.
30. Giannakopoulos P., Kovari E., Gold G., von Gunten A., Hof P.R., Bouras C. Pathological substrates of cognitive decline in Alzheimer's disease. Front. Neurol. Neurosci. 2009, 24:20-29.
31. Goedert M., Spillantini M.G., Jakes R., Rutherford D., Crowther R.A. Multiple isoforms of human microtubule-associated protein tau: sequences and localization in neurofibrillary tangles of Alzheimer's disease. Neuron 1989, 3:519-526.
32. Goedert M., Spillantini M.G., Jakes R., Rutherford D., Crowther R.A. Multiple isoforms of human microtubule-associated protein tau: sequences and localization in neurofibrillary tangles of Alzheimer's disease. Neuron 1989, 3:519-526.
33. Grayson D.R., Jia X., Chen Y., Sharma R.P., Mitchell C.P., Guidotti A., Costa E. Reelin promoter hypermethylation in schizophrenia. Proc. Natl. Acad. Sci. U. S. A. 2005, 102:9341-9346.
34. Gross J. Five omnibus tests for the composite hypothesis of normality http://cran.r-project.org/web/packages/nortest/.
35. Hardy J., Selkoe D.J. The amyloid hypothesis of Alzheimer's disease: progress and problems on the road to therapeutics. Science 2002, 297:353-356.
36. Harlow L.L., Mulaik S.A., Steiger J.H. What if there were no significance tests? 1997, Lawrence Erlbaum Associates Publishers, Mahwah, N.J.
37. Hedges L.V., Olkin I. Statistical Method for Meta-Analysis 1985, Academic Press, Waltham, Massachussetts.
38. Holtzman D.M., Morris J.C., Goate A.M. Alzheimer's disease: the challenge of the second century. Sci. Transl. Med. 2011, 3:77sr1.
39. Huang X. An improved sequence assembly program. Genomics 1996, 33:21-31.
40. Iqbal K., Liu F., Gong C.X., Grundke-Iqbal I. Tau in Alzheimer disease and related tauopathies. Curr. Alzheimer Res. 2010, 7:656-664.
41. Jones E.A., Lopez-Anido C., Srinivasan R., Krueger C., Chang L.W., Nagarajan R., Svaren J. Regulation of the PMP22 Gene through an Intronic Enhancer. J. Neurosci. 2011, 31:4242-4250.
42. Jurka J., Klonowski P., Dagman V., Pelton P. CENSOR-a program for identification and elimination of repetitive elements from DNA sequences. Comput. Chem. 1996, 20:119-121.
43. Kim S., Jensen J.R., Cisek K., Funk K.E., Naphade S., Schafer K., Kuret J. Imaging as a strategy for premortem diagnosis and staging of tauopathies. Curr. Alzheimer Res. 2010, 7:230-234.
44. Kim S.J., Park K., Rudkin B.B., Dey B.R., Sporn M.B., Roberts A.B. Nerve growth factor induces transcription of transforming growth factor-beta 1 through a specific promoter element in PC12 cells. J. Biol. Chem. 1994, 269:3739-3744.
45. Kwok J.B., Teber E.T., Loy C., Hallupp M., Nicholson G., Mellick G.D., Buchanan D.D., Silburn P.A., Schofield P.R. Tau haplotypes regulate transcription and are associated with Parkinson's disease. Ann. Neurol. 2004, 55:329-334.
46. Lahiri D.K., Robakis N.K. The promoter activity of the gene encoding Alzheimer beta-amyloid precursor protein (APP) is regulated by two blocks of upstream sequences. Brain Res. Mol. Brain Res. 1991, 9:253-257.
47. Lahiri D.K., Nall C., Ge Y.W. Promoter activity of the beta-amyloid precursor protein gene is negatively modulated by an upstream regulatory element. Brain Res. Mol. Brain Res. 1999, 71:32-41.
48. Lahiri D.K., Ge Y. Electrophoretic mobility shift assay for the detection of specific DNA-protein complex in nuclear extracts from the cultured cells and frozen autopsy human brain tissue. Brain Res. Brain Res. Protoc. 2000, 5:257-265.
49. Lahiri D.K., Ge Y.-W., Maloney B. Characterization of the APP proximal promoter and 5'-untranslated regions: identification of cell-type specific domains and implications in APP gene expression and Alzheimer's disease. FASEB J. 2005, 19:653-655.
50. Lahiri D.K., Wavrant De-Vrieze F., Ge Y.-W., Maloney B., Hardy J. Characterization of two APP gene promoter polymorphisms that appear to influence risk of late-onset Alzheimer's disease. Neurobiol. Aging 2005, 26:1329-1341.
51. Lahiri D.K., Maloney B., Ge Y.-W. BACE1 gene promoter is differentially regulated: Detection of a novel promoter region for its cell type-specific regulation. J. Mol. Neurosci. 2006, 28:193-210.
52. Lahiri D.K., Maloney B., Ge Y.-W. Functional Domains of the BACE1 and BACE2 promoters and mechanisms of transcriptional suppression of the BACE2 promoter in normal neuronal cells. J. Mol. Neurosci. 2006, 29:65-80.
53. Lahiri D.K., Maloney B., Zawia N.H. The LEARn model: an epigenetic explanation for idiopathic neurobiological diseases. Mol. Psychiatry 2009, 14:992-1003.
54. Lahiri D.K., Maloney B. The "LEARn" (Latent Early-life Associated Regulation) model integrates environmental risk factors and the developmental basis of Alzheimer's disease, and proposes remedial steps. Exp. Gerontol. 2010, 45:291-296.
55. Laws S.M., Perneczky R., Drzezga A., Diehl-Schmid J., Ibach B., Bauml J., Eisele T., Forstl H., Kurz A., Riemenschneider M. Association of the tau haplotype H2 with age at onset and functional alterations of glucose utilization in frontotemporal dementia. Am. J. Psychiatry 2007, 164:1577-1584.
56. Lee Y.A., Durandin A., Dedon P.C., Geacintov N.E., Shafirovich V. Oxidation of guanine in G, GG, and GGG sequence contexts by aromatic pyrenyl radical cations and carbonate radical anions: relationship between kinetics and distribution of alkali-labile lesions. J. Phys. Chem. B 2008, 112:1834-1844.
57. Lv H., Jia L., Jia J. Promoter polymorphisms which modulate APP expression may increase susceptibility to Alzheimer's disease. Neurobiol. Aging 2008, 29:194-202.
58. Maloney B., Ray B., Hayden E.P., Nurnberger J.I., Lahiri D.K. Development and validation of the high-quality 'rapid method for swab' to genotype the HTTLPR serotonin transporter (SLC6A4) promoter polymorphism. Psychiatr. Genet. 2009, 19:72-82.
59. Maloney B., Ge Y.W., Petersen R.C., Hardy J., Rogers J.T., Perez-Tur J., Lahiri D.K. Functional characterization of three single-nucleotide polymorphisms present in the human APOE promoter sequence: Differential effects in neuronal cells and on DNA-protein interactions. Am. J. Med. Genet. B Neuropsychiatr. Genet. 2010, 153B:185-201.
60. Maloney B., Lahiri D.K. The Alzheimer's amyloid beta-peptide (Abeta) binds a specific DNA Abeta-interacting domain (AbetaID) in the APP, BACE1, and APOE promoters in a sequence-specific manner: Characterizing a new regulatory motif. Gene 2011, 488:1-12.
61. McCulloch C.C., Kay D.M., Factor S.A., Samii A., Nutt J.G., Higgins D.S., Griffith A., Roberts J.W., Leis B.C., Montimurro J.S., Zabetian C.P., Payami H. Exploring gene-environment interactions in Parkinson's disease. Hum. Genet. 2008, 123:257-265.
62. 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 beta-amyloid. Nat. Genet. 1992, 1:345-347.
63. Nakagawa S., Cuthill I.C. Effect size, confidence interval and statistical significance: a practical guide for biologists. Biol. Rev. Camb. Philos. Soc. 2007, 82:591-605.
64. NIST/SEMATCH e-Handbook of Statistical Methods Box-Cox normality plot http://www.itl.nist.gov/div898/handbook/eda/section3/boxcoxno.htm.
65. Olejnik S., Algina J. Generalized eta and omega squared statistics: measures of effect size for some common research designs. Psychol. Methods 2003, 8:434-447.
66. Oliveira S.A., Scott W.K., Zhang F., Stajich J.M., Fujiwara K., Hauser M., Scott B.L., Pericak-Vance M.A., Vance J.M., Martin E.R. Linkage disequilibrium and haplotype tagging polymorphisms in the Tau H1 haplotype. Neurogenetics 2004, 5:147-155.
67. Pennisi E. Neandertal genomics. Tales of a prehistoric human genome. Science 2009, 323:866-871.
68. Quandt K., Frech K., Karas H., Wingender E., Werner T. MatInd and MatInspector: new fast and versatile tools for detection of consensus matches in nucleotide sequence data. Nucleic Acids Res. 1995, 23:4878-4884.
69. Querfurth H.W., LaFerla F.M. Alzheimer's disease. N. Engl. J. Med. 2010, 362:329-344.
70. R Development Core Team R: A language and environment for statistical computing http://www.R-project.org/.
71. Rao P.N., Li W., Vissers L.E., Veltman J.A., Ophoff R.A. Recurrent inversion events at 17q21.31 microdeletion locus are linked to the MAPT H2 haplotype. Cytogenet. Genome Res. 2010, 129:275-279.
72. Ronquist F., Huelsenbeck J.P. MrBayes 3: Bayesian phylogenetic inference under mixed models. Bioinformatics 2003, 19:1572-1574.
73. Sadot E., Heicklen-Klein A., Barg J., Lazarovici P., Ginzburg I. Identification of a tau promoter region mediating tissue-specific-regulated expression in PC12 cells. J. Mol. Biol. 1996, 256:805-812.
74. Samaranch L., Cervantes S., Barabash A., Alonso A., Cabranes J.A., Lamet I., Ancin I., Lorenzo E., Martinez-Lage P., Marcos A., Clarimon J., Alcolea D., Lleo A., Blesa R., Gomez-Isla T., Pastor P. The effect of MAPT H1 and APOE epsilon4 on transition from mild cognitive impairment to dementia. J. Alzheimers Dis. 2010, 22:1065-1071.
75. Sambamurti K., Kinsey R., Maloney B., Ge Y.W., Lahiri D.K. Gene structure and organization of the human beta-secretase (BACE) promoter. FASEB J. 2004, 18:1034-1036.
76. Sambamurti K., Suram A., Venugopal C., Prakasam A., Zhou Y., Lahiri D.K., Greig N.H. A partial failure of membrane protein turnover may cause Alzheimer's disease: a new hypothesis. Curr. Alzheimer Res. 2006, 3:81-90.
77. Sambamurti K., Greig N.H., Utsuki T., Barnwell E.L., Sharma E., Mazell C., Bhat N.R., Kindy M.S., Lahiri D.K., Pappolla M.A. Targets for AD treatment: conflicting messages from gamma-secretase inhibitors. J. Neurochem. 2011, 117:359-374.
78. Saura C.A., Valero J. The role of CREB signaling in Alzheimer's disease and other cognitive disorders. Rev. Neurosci. 2011, 22:153-169.
79. Sayers E.W., Barrett T., Benson D.A., Bolton E., Bryant S.H., Canese K., Chetvernin V., Church D.M., Dicuccio M., Federhen S., Feolo M., Geer L.Y., Helmberg W., Kapustin Y., Landsman D., Lipman D.J., Lu Z., Madden T.L., Madej T., Maglott D.R., Marchler-Bauer A., Miller V., Mizrachi I., Ostell J., Panchenko A., Pruitt K.D., Schuler G.D., Sequeira E., Sherry S.T., Shumway M., Sirotkin K., Slotta D., Souvorov A., Starchenko G., Tatusova T.A., Wagner L., Wang Y., John Wilbur W., Yaschenko E., Ye J. Database resources of the National Center for Biotechnology Information. Nucleic Acids Res. 2010, 38:D5-D16.
80. Schmidt H.A., Strimmer K., Vingron M., von Haeseler A. TREE-PUZZLE: maximum likelihood phylogenetic analysis using quartets and parallel computing. Bioinformatics 2002, 18:502-504.
81. Seto-Salvia N., Clarimon J., Pagonabarraga J., Pascual-Sedano B., Campolongo A., Combarros O., Mateo J.I., Regana D., Martinez-Corral M., Marquie M., Alcolea D., Suarez-Calvet M., Molina-Porcel L., Dols O., Gomez-Isla T., Blesa R., Lleo A., Kulisevsky J. Dementia Risk in Parkinson Disease: Disentangling the Role of MAPT Haplotypes. Arch. Neurol. 2011, 68:359-364.
82. Simmons M.P., Ochoterena H. Gaps as characters in sequence-based phylogenetic analyses. Syst. Biol. 2000, 49:369-381.
83. Snider B.J., Fagan A.M., Roe C., Shah A.R., Grant E.A., Xiong C., Morris J.C., Holtzman D.M. Cerebrospinal fluid biomarkers and rate of cognitive decline in very mild dementia of the Alzheimer type. Arch. Neurol. 2009, 66:638-645.
84. Steel R.G.D., Torrie J.H., Dickey D.A. Principles and procedures of statistics: a biometrical approach 1997, McGraw-Hill, New York.
85. Stefansson H., Helgason A., Thorleifsson G., Steinthorsdottir V., Masson G., Barnard J., Baker A., Jonasdottir A., Ingason A., Gudnadottir V.G., Desnica N., Hicks A., Gylfason A., Gudbjartsson D.F., Jonsdottir G.M., Sainz J., Agnarsson K., Birgisdottir B., Ghosh S., Olafsdottir A., Cazier J.B., Kristjansson K., Frigge M.L., Thorgeirsson T.E., Gulcher J.R., Kong A., Stefansson K. A common inversion under selection in Europeans. Nat. Genet. 2005, 37:129-137.
86. Strausberg R.L., Feingold E.A., Grouse L.H., Derge J.G., Klausner R.D., Collins F.S., Wagner L., Shenmen C.M., Schuler G.D., Altschul S.F., Zeeberg B., Buetow K.H., Schaefer C.F., Bhat N.K., Hopkins R.F., Jordan H., Moore T., Max S.I., Wang J., Hsieh F., Diatchenko L., Marusina K., Farmer A.A., Rubin G.M., Hong L., Stapleton M., Soares M.B., Bonaldo M.F., Casavant T.L., Scheetz T.E., Brownstein M.J., Usdin T.B., Toshiyuki S., Carninci P., Prange C., Raha S.S., Loquellano N.A., Peters G.J., Abramson R.D., Mullahy S.J., Bosak S.A., McEwan P.J., McKernan K.J., Malek J.A., Gunaratne P.H., Richards S., Worley K.C., Hale S., Garcia A.M., Gay L.J., Hulyk S.W., Villalon D.K., Muzny D.M., Sodergren E.J., Lu X., Gibbs R.A., Fahey J., Helton E., Ketteman M., Madan A., Rodrigues S., Sanchez A., Whiting M., Madan A., Young A.C., Shevchenko Y., Bouffard G.G., Blakesley R.W., Touchman J.W., Green E.D., Dickson M.C., Rodriguez A.C., Grimwood J., Schmutz J., Myers R.M., Butterfield Y.S., Krzywinski M.I., Skalska U., Smailus D.E., Schnerch A., Schein J.E., Jones S.J., Marra M.A. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Proc. Natl. Acad. Sci. U. S. A. 2002, 99:16899-16903.
87. Sun W., Jia J. The +347 C promoter allele up-regulates MAPT expression and is associated with Alzheimer's disease among the Chinese Han. Neurosci. Lett. 2009, 450:340-343.
88. Sundar P.D., Yu C.E., Sieh W., Steinbart E., Garruto R.M., Oyanagi K., Craig U.K., Bird T.D., Wijsman E.M., Galasko D.R., Schellenberg G.D. Two sites in the MAPT region confer genetic risk for Guam ALS/PDC and dementia. Hum. Mol. Genet. 2007, 16:295-306.
89. Tayler H., Fraser T., Miners J.S., Kehoe P.G., Love S. Oxidative balance in Alzheimer's disease: relationship to APOE, Braak tangle stage, and the concentrations of soluble and insoluble amyloid-beta. J. Alzheimers Dis. 2010, 22:1363-1373.
90. Thies W., Bleiler L. 2011 Alzheimer's disease facts and figures. Alzheimers Dement. 2011, 7:208-244.
91. Thinakaran G., Borchelt D.R., Lee M.K., Slunt H.H., Spitzer L., Kim G., Ratovitsky T., Davenport F., Nordstedt C., Seeger M., Hardy J., Levey A.I., Gandy S.E., Jenkins N.A., Copeland N.G., Price D.L., Sisodia S.S. Endoproteolysis of presenilin 1 and accumulation of processed derivatives in vivo. Neuron 1996, 17:181-190.
92. Wang S., Jia J. Promoter polymorphisms which modulate BACE1 expression are associated with sporadic Alzheimer's disease. Am. J. Med. Genet. B Neuropsychiatr. Genet. 2010, 153B:159-166.
93. Wider C., Vilarino-Guell C., Jasinska-Myga B., Heckman M.G., Soto-Ortolaza A.I., Cobb S.A., Aasly J.O., Gibson J.M., Lynch T., Uitti R.J., Wszolek Z.K., Farrer M.J., Ross O.A. Association of the MAPT locus with Parkinson's disease. Eur. J. Neurol. 2010, 17:483-486.
94. Williams-Gray C.H., Evans J.R., Goris A., Foltynie T., Ban M., Robbins T.W., Brayne C., Kolachana B.S., Weinberger D.R., Sawcer S.J., Barker R.A. The distinct cognitive syndromes of Parkinson's disease: 5 year follow-up of the CamPaIGN cohort. Brain 2009, 132:2958-2969.
95. Yamagata K., Urakami K., Ikeda K., Ji Y., Adachi Y., Arai H., Sasaki H., Sato K., Nakashima K. High expression of apolipoprotein E mRNA in the brains with sporadic Alzheimer's disease. Dement. Geriatr. Cogn. Disord. 2001, 12:57-62.
96. Ying S., Kojima T., Kawada A., Nachat R., Serre G., Simon M., Takahara H. An intronic enhancer driven by NF-kappaB contributes to transcriptional regulation of peptidylarginine deiminase type I gene in human keratinocytes. J. Invest. Dermatol. 2010, 130:2543-2552.
97. Zody M.C., Jiang Z., Fung H.C., Antonacci F., Hillier L.W., Cardone M.F., Graves T.A., Kidd J.M., Cheng Z., Abouelleil A., Chen L., Wallis J., Glasscock J., Wilson R.K., Reily A.D., Duckworth J., Ventura M., Hardy J., Warren W.C., Eichler E.E. Evolutionary toggling of the MAPT 17q21.31 inversion region. Nat. Genet. 2008, 40:1076-1083.
98. Zuo X., Jia J. Promoter polymorphisms which modulate insulin degrading enzyme expression may increase susceptibility to Alzheimer's disease. Brain Res. 2009, 1249:1-8.