DYRK1A genetic variants are not linked to Alzheimer's disease in a Spanish case-control cohort

go back to reference Iqbal K, Liu F, Gong CX, Alonso AC, Grundke-Iqbal I: Mechanisms of tau-induced neurodegeneration. Acta Neuropathol. 2009, 118: 53-69. 10.1007/s00401-009-0486-3.CrossRefPubMedPubMedCentral Iqbal K, Liu F, Gong CX, Alonso AC, Grundke-Iqbal I: Mechanisms of tau-induced neurodegeneration. Acta Neuropathol. 2009, 118: 53-69. 10.1007/s00401-009-0486-3.CrossRefPubMedPubMedCentral

go back to reference Woods YL, Cohen P, Becker W, Jakes R, Goedert M, Wang X, Proud CG: The kinase DYRK phosphorylates protein-synthesis initiation factor elF2Bε at Ser539 and the microtubule-associated protein tau at Thr212: potential role of DYRK as a glycogen synthase kinase 3-priming kinase. Biochem J. 2001, 355: 609-15.CrossRefPubMedPubMedCentral Woods YL, Cohen P, Becker W, Jakes R, Goedert M, Wang X, Proud CG: The kinase DYRK phosphorylates protein-synthesis initiation factor elF2Bε at Ser⁵³⁹ and the microtubule-associated protein tau at Thr²¹²: potential role of DYRK as a glycogen synthase kinase 3-priming kinase. Biochem J. 2001, 355: 609-15.CrossRefPubMedPubMedCentral

go back to reference Ryoo SR, Jeong HK, Radnaabazar C, Yoo JJ, Cho HJ, Lee HW, Kim IS, Cheon YH, Ahn YS, Chung SH, Song WJ: DYRK1A-mediated hyperphosphorylation of tau. A functional link between Down syndrome and Alzheimer disease. J Biol Chem. 2007, 282: 34850-7. 10.1074/jbc.M707358200.CrossRefPubMed Ryoo SR, Jeong HK, Radnaabazar C, Yoo JJ, Cho HJ, Lee HW, Kim IS, Cheon YH, Ahn YS, Chung SH, Song WJ: DYRK1A-mediated hyperphosphorylation of tau. A functional link between Down syndrome and Alzheimer disease. J Biol Chem. 2007, 282: 34850-7. 10.1074/jbc.M707358200.CrossRefPubMed

go back to reference Ferrer I, Barrachina M, Puig B, Martínez de Lagrán M, Martí E, Avila J, Dierssen M: Constitutive Dyrk1A is abnormally expressed in Alzheimer disease, Down syndrome, Pick disease, and related transgenic models. Neurobiol Dis. 2005, 20: 392-400. 10.1016/j.nbd.2005.03.020.CrossRefPubMed Ferrer I, Barrachina M, Puig B, Martínez de Lagrán M, Martí E, Avila J, Dierssen M: Constitutive Dyrk1A is abnormally expressed in Alzheimer disease, Down syndrome, Pick disease, and related transgenic models. Neurobiol Dis. 2005, 20: 392-400. 10.1016/j.nbd.2005.03.020.CrossRefPubMed

go back to reference Wegiel J, Dowjat K, Kaczmarski W, Kuchna I, Nowicki K, Frackowiak J, Kolecka BM, Wegiel J, Silverman WP, Reisberg B, deLeon M, Wisniewski T, Gong CX, Liu F, Adayev T, Chen-Hwang MC, Hwang YW: The role of overexpressed DYRK1A protein in the early onset of neurofibrillary degeneration in Down syndrome. Acta Neuropathol. 2008, 116: 391-407. 10.1007/s00401-008-0419-6.CrossRefPubMedPubMedCentral Wegiel J, Dowjat K, Kaczmarski W, Kuchna I, Nowicki K, Frackowiak J, Kolecka BM, Wegiel J, Silverman WP, Reisberg B, deLeon M, Wisniewski T, Gong CX, Liu F, Adayev T, Chen-Hwang MC, Hwang YW: The role of overexpressed DYRK1A protein in the early onset of neurofibrillary degeneration in Down syndrome. Acta Neuropathol. 2008, 116: 391-407. 10.1007/s00401-008-0419-6.CrossRefPubMedPubMedCentral

go back to reference Shi J, Zhang T, Zhou C, Chohan MO, Gu X, Wegiel J, Zhou J, Hwang YW, Iqbal K, Grundke-Iqbal I, Gong CX, Liu F: Increase dosage of Dyrk1A alters alternative splicing factor (ASF)-regulated alternative splicing of tau in Down syndrome. J Biol Chem. 2008, 283: 28660-9. 10.1074/jbc.M802645200.CrossRefPubMedPubMedCentral Shi J, Zhang T, Zhou C, Chohan MO, Gu X, Wegiel J, Zhou J, Hwang YW, Iqbal K, Grundke-Iqbal I, Gong CX, Liu F: Increase dosage of Dyrk1A alters alternative splicing factor (ASF)-regulated alternative splicing of tau in Down syndrome. J Biol Chem. 2008, 283: 28660-9. 10.1074/jbc.M802645200.CrossRefPubMedPubMedCentral

go back to reference Liu F, Liang Z, Wegiel J, Hwang YW, Iqbal K, Grundke-Iqbal I, Ramakrishna N, Gong CX: Overexpression of Dyrk1A contributes to neurofibrillary degeneration in Down syndrome. FASEB J. 2008, 22: 3224-33. 10.1096/fj.07-104539.CrossRefPubMedPubMedCentral Liu F, Liang Z, Wegiel J, Hwang YW, Iqbal K, Grundke-Iqbal I, Ramakrishna N, Gong CX: Overexpression of Dyrk1A contributes to neurofibrillary degeneration in Down syndrome. FASEB J. 2008, 22: 3224-33. 10.1096/fj.07-104539.CrossRefPubMedPubMedCentral

go back to reference Bertram L, McQueen MB, Mullin K, Blacker D, Tanzi RE: Systematic meta-analyses of Alzheimer disease genetic association studies: the AlzGene database. Nat Genet. 2007, 39: 17-23. 10.1038/ng1934.CrossRefPubMed Bertram L, McQueen MB, Mullin K, Blacker D, Tanzi RE: Systematic meta-analyses of Alzheimer disease genetic association studies: the AlzGene database. Nat Genet. 2007, 39: 17-23. 10.1038/ng1934.CrossRefPubMed

go back to reference Feulner TM, Laws SM, Friedrich P, Wagenpfeil S, Wurst SH, Riehle C, Kuhn KA, Krawczak M, Schreiber S, Nikolaus S, Förstl H, Kurz A, Riemenschneider M: Examination of the current top candidate genes for AD in a genome-wide association study. Mol Psychiatry. 2009, doi: 10.1038/mp.2008.141 Feulner TM, Laws SM, Friedrich P, Wagenpfeil S, Wurst SH, Riehle C, Kuhn KA, Krawczak M, Schreiber S, Nikolaus S, Förstl H, Kurz A, Riemenschneider M: Examination of the current top candidate genes for AD in a genome-wide association study. Mol Psychiatry. 2009, doi: 10.1038/mp.2008.141

go back to reference Harold D, Abraham R, Hollingworth P, Sims R, Gerrish A, Hamshere ML, Pahwa JS, Moskvina V, Dowzell K, Williams A, Jones N, Thomas C, Stretton A, Morgan AR, Lovestone S, Powell J, Proitsi P, Lupton MK, Brayne C, Rubinsztein DC, Gill M, Lawlor B, Lynch A, Morgan K, Brown KS, Passmore PA, Craig D, McGuinness B, Todd S, Holmes C, Mann D, Smith AD, Love S, Kehoe PG, Hardy J, Mead S, Fox N, Rossor M, Collinge J, Maier W, Jessen F, Schürmann B, Bussche van den H, Heuser I, Kornhuber J, Wiltfang J, Dichgans M, Frölich L, Hampel H, Hüll M, Rujescu D, Goate AM, Kauwe JS, Cruchaga C, Nowotny P, Morris JC, Mayo K, Sleegers K, Bettens K, Engelborghs S, De Deyn PP, Van Broeckhoven C, Livingston G, Bass NJ, Gurling H, McQuillin A, Gwilliam R, Deloukas P, Al-Chalabi A, Shaw CE, Tsolaki M, Singleton AB, Guerreiro R, Mühleisen TW, Nöthen MM, Moebus S, Jöckel KH, Klopp N, Wichmann HE, Carrasquillo MM, Pankratz VS, Younkin SG, Holmans PA, O'Donovan M, Owen MJ, Williams J: Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease. Nat Genet. 2009, 41: 1088-93. 10.1038/ng.440.CrossRefPubMedPubMedCentral Harold D, Abraham R, Hollingworth P, Sims R, Gerrish A, Hamshere ML, Pahwa JS, Moskvina V, Dowzell K, Williams A, Jones N, Thomas C, Stretton A, Morgan AR, Lovestone S, Powell J, Proitsi P, Lupton MK, Brayne C, Rubinsztein DC, Gill M, Lawlor B, Lynch A, Morgan K, Brown KS, Passmore PA, Craig D, McGuinness B, Todd S, Holmes C, Mann D, Smith AD, Love S, Kehoe PG, Hardy J, Mead S, Fox N, Rossor M, Collinge J, Maier W, Jessen F, Schürmann B, Bussche van den H, Heuser I, Kornhuber J, Wiltfang J, Dichgans M, Frölich L, Hampel H, Hüll M, Rujescu D, Goate AM, Kauwe JS, Cruchaga C, Nowotny P, Morris JC, Mayo K, Sleegers K, Bettens K, Engelborghs S, De Deyn PP, Van Broeckhoven C, Livingston G, Bass NJ, Gurling H, McQuillin A, Gwilliam R, Deloukas P, Al-Chalabi A, Shaw CE, Tsolaki M, Singleton AB, Guerreiro R, Mühleisen TW, Nöthen MM, Moebus S, Jöckel KH, Klopp N, Wichmann HE, Carrasquillo MM, Pankratz VS, Younkin SG, Holmans PA, O'Donovan M, Owen MJ, Williams J: Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease. Nat Genet. 2009, 41: 1088-93. 10.1038/ng.440.CrossRefPubMedPubMedCentral

go back to reference Lambert JC, Heath S, Even G, Campion D, Sleegers K, Hiltunen M, Combarros O, Zelenika D, Bullido MJ, Tavernier B, Letenneur L, Bettens K, Berr C, Pasquier F, Fiévet N, Barberger-Gateau P, Engelborghs S, De Deyn P, Mateo I, Franck A, Helisalmi S, Porcellini E, Hanon O, European Alzheimer's Disease Initiative Investigators, de Pancorbo MM, Lendon C, Dufouil C, Jaillard C, Leveillard T, Alvarez V, Bosco P, Mancuso M, Panza F, Nacmias B, Bossù P, Piccardi P, Annoni G, Seripa D, Galimberti D, Hannequin D, Licastro F, Soininen H, Ritchie K, Blanché H, Dartigues JF, Tzourio C, Gut I, Van Broeckhoven C, Alpérovitch A, Lathrop M, Amouyel P: Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease. Nat Genet. 2009, 41: 1094-9. 10.1038/ng.439.CrossRefPubMed Lambert JC, Heath S, Even G, Campion D, Sleegers K, Hiltunen M, Combarros O, Zelenika D, Bullido MJ, Tavernier B, Letenneur L, Bettens K, Berr C, Pasquier F, Fiévet N, Barberger-Gateau P, Engelborghs S, De Deyn P, Mateo I, Franck A, Helisalmi S, Porcellini E, Hanon O, European Alzheimer's Disease Initiative Investigators, de Pancorbo MM, Lendon C, Dufouil C, Jaillard C, Leveillard T, Alvarez V, Bosco P, Mancuso M, Panza F, Nacmias B, Bossù P, Piccardi P, Annoni G, Seripa D, Galimberti D, Hannequin D, Licastro F, Soininen H, Ritchie K, Blanché H, Dartigues JF, Tzourio C, Gut I, Van Broeckhoven C, Alpérovitch A, Lathrop M, Amouyel P: Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease. Nat Genet. 2009, 41: 1094-9. 10.1038/ng.439.CrossRefPubMed

go back to reference Kimura R, Kamino K, Yamamoto M, Nuripa A, Kida T, Kazui H, Hashimoto R, Tanaka T, Kudo T, Yamagata H, Tabara Y, Miki T, Akatsu H, Kosaka K, Funakoshi E, Nishitomi K, Sakaguchi G, Kato A, Hattori H, Uema T, Takeda M: The DYRK1A gene, encoded in chromosome 21 Down syndrome critical region, bridges between β-amyloid production and tau phosphorylation in Alzheimer disease. Hum Mol Genet. 2007, 16: 15-23. 10.1093/hmg/ddl437.CrossRefPubMed Kimura R, Kamino K, Yamamoto M, Nuripa A, Kida T, Kazui H, Hashimoto R, Tanaka T, Kudo T, Yamagata H, Tabara Y, Miki T, Akatsu H, Kosaka K, Funakoshi E, Nishitomi K, Sakaguchi G, Kato A, Hattori H, Uema T, Takeda M: The DYRK1A gene, encoded in chromosome 21 Down syndrome critical region, bridges between β-amyloid production and tau phosphorylation in Alzheimer disease. Hum Mol Genet. 2007, 16: 15-23. 10.1093/hmg/ddl437.CrossRefPubMed

go back to reference McKhaan G, Drachman D, Folstein M, Katzman R, Price D, Stadlan EM: Clinical diagnosis of Alzheimer's disease: report of the NINCDA-ADRDA Work Group under the auspices of Department of Health and Human Services Task Force on Alzheimer's Disease. Neurology. 1984, 34: 934-44.CrossRef McKhaan G, Drachman D, Folstein M, Katzman R, Price D, Stadlan EM: Clinical diagnosis of Alzheimer's disease: report of the NINCDA-ADRDA Work Group under the auspices of Department of Health and Human Services Task Force on Alzheimer's Disease. Neurology. 1984, 34: 934-44.CrossRef