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Items: 30

1.

Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing.

Kunkle BW, Grenier-Boley B, Sims R, Bis JC, Damotte V, Naj AC, Boland A, Vronskaya M, van der Lee SJ, Amlie-Wolf A, Bellenguez C, Frizatti A, Chouraki V, Martin ER, Sleegers K, Badarinarayan N, Jakobsdottir J, Hamilton-Nelson KL, Moreno-Grau S, Olaso R, Raybould R, Chen Y, Kuzma AB, Hiltunen M, Morgan T, Ahmad S, Vardarajan BN, Epelbaum J, Hoffmann P, Boada M, Beecham GW, Garnier JG, Harold D, Fitzpatrick AL, Valladares O, Moutet ML, Gerrish A, Smith AV, Qu L, Bacq D, Denning N, Jian X, Zhao Y, Del Zompo M, Fox NC, Choi SH, Mateo I, Hughes JT, Adams HH, Malamon J, Sanchez-Garcia F, Patel Y, Brody JA, Dombroski BA, Naranjo MCD, Daniilidou M, Eiriksdottir G, Mukherjee S, Wallon D, Uphill J, Aspelund T, Cantwell LB, Garzia F, Galimberti D, Hofer E, Butkiewicz M, Fin B, Scarpini E, Sarnowski C, Bush WS, Meslage S, Kornhuber J, White CC, Song Y, Barber RC, Engelborghs S, Sordon S, Voijnovic D, Adams PM, Vandenberghe R, Mayhaus M, Cupples LA, Albert MS, De Deyn PP, Gu W, Himali JJ, Beekly D, Squassina A, Hartmann AM, Orellana A, Blacker D, Rodriguez-Rodriguez E, Lovestone S, Garcia ME, Doody RS, Munoz-Fernadez C, Sussams R, Lin H, Fairchild TJ, Benito YA, Holmes C, Karamujić-Čomić H, Frosch MP, Thonberg H, Maier W, Roschupkin G, Ghetti B, Giedraitis V, Kawalia A, Li S, Huebinger RM, Kilander L, Moebus S, Hernández I, Kamboh MI, Brundin R, Turton J, Yang Q, Katz MJ, Concari L, Lord J, Beiser AS, Keene CD, Helisalmi S, Kloszewska I, Kukull WA, Koivisto AM, Lynch A, Tarraga L, Larson EB, Haapasalo A, Lawlor B, Mosley TH, Lipton RB, Solfrizzi V, Gill M, Longstreth WT Jr, Montine TJ, Frisardi V, Diez-Fairen M, Rivadeneira F, Petersen RC, Deramecourt V, Alvarez I, Salani F, Ciaramella A, Boerwinkle E, Reiman EM, Fievet N, Rotter JI, Reisch JS, Hanon O, Cupidi C, Andre Uitterlinden AG, Royall DR, Dufouil C, Maletta RG, de Rojas I, Sano M, Brice A, Cecchetti R, George-Hyslop PS, Ritchie K, Tsolaki M, Tsuang DW, Dubois B, Craig D, Wu CK, Soininen H, Avramidou D, Albin RL, Fratiglioni L, Germanou A, Apostolova LG, Keller L, Koutroumani M, Arnold SE, Panza F, Gkatzima O, Asthana S, Hannequin D, Whitehead P, Atwood CS, Caffarra P, Hampel H, Quintela I, Carracedo Á, Lannfelt L, Rubinsztein DC, Barnes LL, Pasquier F, Frölich L, Barral S, McGuinness B, Beach TG, Johnston JA, Becker JT, Passmore P, Bigio EH, Schott JM, Bird TD, Warren JD, Boeve BF, Lupton MK, Bowen JD, Proitsi P, Boxer A, Powell JF, Burke JR, Kauwe JSK, Burns JM, Mancuso M, Buxbaum JD, Bonuccelli U, Cairns NJ, McQuillin A, Cao C, Livingston G, Carlson CS, Bass NJ, Carlsson CM, Hardy J, Carney RM, Bras J, Carrasquillo MM, Guerreiro R, Allen M, Chui HC, Fisher E, Masullo C, Crocco EA, DeCarli C, Bisceglio G, Dick M, Ma L, Duara R, Graff-Radford NR, Evans DA, Hodges A, Faber KM, Scherer M, Fallon KB, Riemenschneider M, Fardo DW, Heun R, Farlow MR, Kölsch H, Ferris S, Leber M, Foroud TM, Heuser I, Galasko DR, Giegling I, Gearing M, Hüll M, Geschwind DH, Gilbert JR, Morris J, Green RC, Mayo K, Growdon JH, Feulner T, Hamilton RL, Harrell LE, Drichel D, Honig LS, Cushion TD, Huentelman MJ, Hollingworth P, Hulette CM, Hyman BT, Marshall R, Jarvik GP, Meggy A, Abner E, Menzies GE, Jin LW, Leonenko G, Real LM, Jun GR, Baldwin CT, Grozeva D, Karydas A, Russo G, Kaye JA, Kim R, Jessen F, Kowall NW, Vellas B, Kramer JH, Vardy E, LaFerla FM, Jöckel KH, Lah JJ, Dichgans M, Leverenz JB, Mann D, Levey AI, Pickering-Brown S, Lieberman AP, Klopp N, Lunetta KL, Wichmann HE, Lyketsos CG, Morgan K, Marson DC, Brown K, Martiniuk F, Medway C, Mash DC, Nöthen MM, Masliah E, Hooper NM, McCormick WC, Daniele A, McCurry SM, Bayer A, McDavid AN, Gallacher J, McKee AC, van den Bussche H, Mesulam M, Brayne C, Miller BL, Riedel-Heller S, Miller CA, Miller JW, Al-Chalabi A, Morris JC, Shaw CE, Myers AJ, Wiltfang J, O'Bryant S, Olichney JM, Alvarez V, Parisi JE, Singleton AB, Paulson HL, Collinge J, Perry WR, Mead S, Peskind E, Cribbs DH, Rossor M, Pierce A, Ryan NS, Poon WW, Nacmias B, Potter H, Sorbi S, Quinn JF, Sacchinelli E, Raj A, Spalletta G, Raskind M, Caltagirone C, Bossù P, Orfei MD, Reisberg B, Clarke R, Reitz C, Smith AD, Ringman JM, Warden D, Roberson ED, Wilcock G, Rogaeva E, Bruni AC, Rosen HJ, Gallo M, Rosenberg RN, Ben-Shlomo Y, Sager MA, Mecocci P, Saykin AJ, Pastor P, Cuccaro ML, Vance JM, Schneider JA, Schneider LS, Slifer S, Seeley WW, Smith AG, Sonnen JA, Spina S, Stern RA, Swerdlow RH, Tang M, Tanzi RE, Trojanowski JQ, Troncoso JC, Van Deerlin VM, Van Eldik LJ, Vinters HV, Vonsattel JP, Weintraub S, Welsh-Bohmer KA, Wilhelmsen KC, Williamson J, Wingo TS, Woltjer RL, Wright CB, Yu CE, Yu L, Saba Y; Alzheimer Disease Genetics Consortium (ADGC),; European Alzheimer’s Disease Initiative (EADI),; Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium (CHARGE),; Genetic and Environmental Risk in AD/Defining Genetic, Polygenic and Environmental Risk for Alzheimer’s Disease Consortium (GERAD/PERADES),, Pilotto A, Bullido MJ, Peters O, Crane PK, Bennett D, Bosco P, Coto E, Boccardi V, De Jager PL, Lleo A, Warner N, Lopez OL, Ingelsson M, Deloukas P, Cruchaga C, Graff C, Gwilliam R, Fornage M, Goate AM, Sanchez-Juan P, Kehoe PG, Amin N, Ertekin-Taner N, Berr C, Debette S, Love S, Launer LJ, Younkin SG, Dartigues JF, Corcoran C, Ikram MA, Dickson DW, Nicolas G, Campion D, Tschanz J, Schmidt H, Hakonarson H, Clarimon J, Munger R, Schmidt R, Farrer LA, Van Broeckhoven C, C O'Donovan M, DeStefano AL, Jones L, Haines JL, Deleuze JF, Owen MJ, Gudnason V, Mayeux R, Escott-Price V, Psaty BM, Ramirez A, Wang LS, Ruiz A, van Duijn CM, Holmans PA, Seshadri S, Williams J, Amouyel P, Schellenberg GD, Lambert JC, Pericak-Vance MA.

Nat Genet. 2019 Mar;51(3):414-430. doi: 10.1038/s41588-019-0358-2. Epub 2019 Feb 28.

PMID:
30820047
2.

A TgCRND8 Mouse Model of Alzheimer's Disease Exhibits Sexual Dimorphisms in Behavioral Indices of Cognitive Reserve.

Granger MW, Franko B, Taylor MW, Messier C, George-Hyslop PS, Bennett SA.

J Alzheimers Dis. 2016;51(3):757-73. doi: 10.3233/JAD-150587.

PMID:
26890738
3.

Alzheimer amyloid peptide aβ42 regulates gene expression of transcription and growth factors.

Barucker C, Sommer A, Beckmann G, Eravci M, Harmeier A, Schipke CG, Brockschnieder D, Dyrks T, Althoff V, Fraser PE, Hazrati LN, George-Hyslop PS, Breitner JC, Peters O, Multhaup G.

J Alzheimers Dis. 2015;44(2):613-24. doi: 10.3233/JAD-141902.

PMID:
25318543
4.

Gene-wide analysis detects two new susceptibility genes for Alzheimer's disease.

Escott-Price V, Bellenguez C, Wang LS, Choi SH, Harold D, Jones L, Holmans P, Gerrish A, Vedernikov A, Richards A, DeStefano AL, Lambert JC, Ibrahim-Verbaas CA, Naj AC, Sims R, Jun G, Bis JC, Beecham GW, Grenier-Boley B, Russo G, Thornton-Wells TA, Denning N, Smith AV, Chouraki V, Thomas C, Ikram MA, Zelenika D, Vardarajan BN, Kamatani Y, Lin CF, Schmidt H, Kunkle B, Dunstan ML, Vronskaya M; United Kingdom Brain Expression Consortium, Johnson AD, Ruiz A, Bihoreau MT, Reitz C, Pasquier F, Hollingworth P, Hanon O, Fitzpatrick AL, Buxbaum JD, Campion D, Crane PK, Baldwin C, Becker T, Gudnason V, Cruchaga C, Craig D, Amin N, Berr C, Lopez OL, De Jager PL, Deramecourt V, Johnston JA, Evans D, Lovestone S, Letenneur L, Hernández I, Rubinsztein DC, Eiriksdottir G, Sleegers K, Goate AM, Fiévet N, Huentelman MJ, Gill M, Brown K, Kamboh MI, Keller L, Barberger-Gateau P, McGuinness B, Larson EB, Myers AJ, Dufouil C, Todd S, Wallon D, Love S, Rogaeva E, Gallacher J, George-Hyslop PS, Clarimon J, Lleo A, Bayer A, Tsuang DW, Yu L, Tsolaki M, Bossù P, Spalletta G, Proitsi P, Collinge J, Sorbi S, Garcia FS, Fox NC, Hardy J, Naranjo MC, Bosco P, Clarke R, Brayne C, Galimberti D, Scarpini E, Bonuccelli U, Mancuso M, Siciliano G, Moebus S, Mecocci P, Zompo MD, Maier W, Hampel H, Pilotto A, Frank-García A, Panza F, Solfrizzi V, Caffarra P, Nacmias B, Perry W, Mayhaus M, Lannfelt L, Hakonarson H, Pichler S, Carrasquillo MM, Ingelsson M, Beekly D, Alvarez V, Zou F, Valladares O, Younkin SG, Coto E, Hamilton-Nelson KL, Gu W, Razquin C, Pastor P, Mateo I, Owen MJ, Faber KM, Jonsson PV, Combarros O, O'Donovan MC, Cantwell LB, Soininen H, Blacker D, Mead S, Mosley TH Jr, Bennett DA, Harris TB, Fratiglioni L, Holmes C, de Bruijn RF, Passmore P, Montine TJ, Bettens K, Rotter JI, Brice A, Morgan K, Foroud TM, Kukull WA, Hannequin D, Powell JF, Nalls MA, Ritchie K, Lunetta KL, Kauwe JS, Boerwinkle E, Riemenschneider M, Boada M, Hiltunen M, Martin ER, Schmidt R, Rujescu D, Dartigues JF, Mayeux R, Tzourio C, Hofman A, Nöthen MM, Graff C, Psaty BM, Haines JL, Lathrop M, Pericak-Vance MA, Launer LJ, Van Broeckhoven C, Farrer LA, van Duijn CM, Ramirez A, Seshadri S, Schellenberg GD, Amouyel P, Williams J; Cardiovascular Health Study (CHS).

PLoS One. 2014 Jun 12;9(6):e94661. doi: 10.1371/journal.pone.0094661. eCollection 2014.

5.

Proliferation, differentiation and amyloid-β production in neural progenitor cells isolated from TgCRND8 mice.

Kanemoto S, Griffin J, Markham-Coultes K, Aubert I, Tandon A, George-Hyslop PS, Fraser PE.

Neuroscience. 2014 Mar 7;261:52-9. doi: 10.1016/j.neuroscience.2013.12.021. Epub 2013 Dec 20.

6.

Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease.

Cruchaga C, Karch CM, Jin SC, Benitez BA, Cai Y, Guerreiro R, Harari O, Norton J, Budde J, Bertelsen S, Jeng AT, Cooper B, Skorupa T, Carrell D, Levitch D, Hsu S, Choi J, Ryten M, Sassi C, Bras J, Gibbs RJ, Hernandez DG, Lupton MK, Powell J, Forabosco P, Ridge PG, Corcoran CD, Tschanz JT, Norton MC, Munger RG, Schmutz C, Leary M, Demirci FY, Bamne MN, Wang X, Lopez OL, Ganguli M, Medway C, Turton J, Lord J, Braae A, Barber I, Brown K; Alzheimer's Research UK (ARUK) Consortium, Pastor P, Lorenzo-Betancor O, Brkanac Z, Scott E, Topol E, Morgan K, Rogaeva E, Singleton A, Hardy J, Kamboh MI, George-Hyslop PS, Cairns N, Morris JC, Kauwe JSK, Goate AM.

Nature. 2014 Jan 23;505(7484):550-554. doi: 10.1038/nature12825. Epub 2013 Dec 11.

7.

Independent and epistatic effects of variants in VPS10-d receptors on Alzheimer disease risk and processing of the amyloid precursor protein (APP).

Reitz C, Tosto G, Vardarajan B, Rogaeva E, Ghani M, Rogers RS, Conrad C, Haines JL, Pericak-Vance MA, Fallin MD, Foroud T, Farrer LA, Schellenberg GD, George-Hyslop PS, Mayeux R; Alzheimer's Disease Genetics Consortium (ADGC).

Transl Psychiatry. 2013 May 14;3:e256. doi: 10.1038/tp.2013.13.

8.

Role of p73 in Alzheimer disease: lack of association in mouse models or in human cohorts.

Vardarajan B, Vergote D, Tissir F, Logue M, Yang J, Daude N, Ando K, Rogaeva E, Lee J, Cheng R, Brion JP, Ghani M, Shi B, Baldwin CT, Kar S, Mayeux R, Fraser P, Goffinet AM, George-Hyslop PS, Farrer LA, Westaway D.

Mol Neurodegener. 2013 Feb 15;8:10. doi: 10.1186/1750-1326-8-10.

9.

Anti-amyloid-β-mediated positron emission tomography imaging in Alzheimer's disease mouse brains.

McLean D, Cooke MJ, Wang Y, Green D, Fraser PE, George-Hyslop PS, Shoichet MS.

PLoS One. 2012;7(12):e51958. doi: 10.1371/journal.pone.0051958. Epub 2012 Dec 21.

10.

Vigilin interacts with signal peptide peptidase.

Lu SH, Jeon AH, Schmitt-Ulms G, Qamar S, Dodd R, McDonald B, Li Y, Meadows W, Cox K, Bohm C, Chen F, Fraser P, George-Hyslop PS.

Proteome Sci. 2012 May 18;10(1):33. doi: 10.1186/1477-5956-10-33.

11.

Comprehensive mutational analysis of LRRK2 reveals variants supporting association with autosomal dominant Parkinson's disease.

Seki N, Takahashi Y, Tomiyama H, Rogaeva E, Murayama S, Mizuno Y, Hattori N, Marras C, Lang AE, George-Hyslop PS, Goto J, Tsuji S.

J Hum Genet. 2011 Sep;56(9):671-5. doi: 10.1038/jhg.2011.79. Epub 2011 Jul 28.

PMID:
21796139
12.

SORCS1 alters amyloid precursor protein processing and variants may increase Alzheimer's disease risk.

Reitz C, Tokuhiro S, Clark LN, Conrad C, Vonsattel JP, Hazrati LN, Palotás A, Lantigua R, Medrano M, Z Jiménez-Velázquez I, Vardarajan B, Simkin I, Haines JL, Pericak-Vance MA, Farrer LA, Lee JH, Rogaeva E, George-Hyslop PS, Mayeux R.

Ann Neurol. 2011 Jan;69(1):47-64. doi: 10.1002/ana.22308.

13.

An exploration of cognitive subgroups in Alzheimer's disease.

Davidson JE, Irizarry MC, Bray BC, Wetten S, Galwey N, Gibson R, Borrie M, Delisle R, Feldman HH, Hsiung GY, Fornazzari L, Gauthier S, Guzman D, Loy-English I, Keren R, Kertesz A, George-Hyslop PS, Wherrett J, Monsch AU.

J Int Neuropsychol Soc. 2010 Mar;16(2):233-43. doi: 10.1017/S1355617709991160. Epub 2009 Dec 4.

14.

Microglial activation in brain lesions with tau deposits: comparison of human tauopathies and tau transgenic mice TgTauP301L.

Sasaki A, Kawarabayashi T, Murakami T, Matsubara E, Ikeda M, Hagiwara H, Westaway D, George-Hyslop PS, Shoji M, Nakazato Y.

Brain Res. 2008 Jun 12;1214:159-68. doi: 10.1016/j.brainres.2008.02.084. Epub 2008 Mar 8.

PMID:
18457819
15.

p53-Dependent Aph-1 and Pen-2 anti-apoptotic phenotype requires the integrity of the gamma-secretase complex but is independent of its activity.

Dunys J, Kawarai T, Sevalle J, Dolcini V, George-Hyslop PS, Da Costa CA, Checler F.

J Biol Chem. 2007 Apr 6;282(14):10516-25. Epub 2007 Feb 2.

16.

Genetic complexity of Alzheimer's disease: successes and challenges.

Rogaeva E, Kawarai T, George-Hyslop PS.

J Alzheimers Dis. 2006;9(3 Suppl):381-7.

PMID:
16914876
17.

Association studies between the plasmin genes and late-onset Alzheimer's disease.

Shibata N, Kawarai T, Meng Y, Lee JH, Lee HS, Wakutani Y, Shibata E, Pathan N, Bi A, Sato C, Sorbi S, Bruni AC, Duara R, Mayeux R, Farrer LA, George-Hyslop PS, Rogaeva E.

Neurobiol Aging. 2007 Jul;28(7):1041-3. Epub 2006 Jul 7.

18.

Gerstmann-Sträussler-Scheinker disease with the Q217R mutation mimicking frontotemporal dementia.

Woulfe J, Kertesz A, Frohn I, Bauer S, George-Hyslop PS, Bergeron C.

Acta Neuropathol. 2005 Sep;110(3):317-9. Epub 2005 Jul 16. No abstract available.

PMID:
16025285
19.

Alzheimer's disease. Unravelling the disease process.

George-Hyslop PS, Rossor M.

Lancet. 2001 Dec;358 Suppl:S1. No abstract available.

PMID:
11784550
20.

Disturbed activation of endoplasmic reticulum stress transducers by familial Alzheimer's disease-linked presenilin-1 mutations.

Katayama T, Imaizumi K, Honda A, Yoneda T, Kudo T, Takeda M, Mori K, Rozmahel R, Fraser P, George-Hyslop PS, Tohyama M.

J Biol Chem. 2001 Nov 16;276(46):43446-54. Epub 2001 Sep 10.

21.

Early-onset amyloid deposition and cognitive deficits in transgenic mice expressing a double mutant form of amyloid precursor protein 695.

Chishti MA, Yang DS, Janus C, Phinney AL, Horne P, Pearson J, Strome R, Zuker N, Loukides J, French J, Turner S, Lozza G, Grilli M, Kunicki S, Morissette C, Paquette J, Gervais F, Bergeron C, Fraser PE, Carlson GA, George-Hyslop PS, Westaway D.

J Biol Chem. 2001 Jun 15;276(24):21562-70. Epub 2001 Mar 15.

22.

Inherited myoclonus-dystonia: evidence supporting genetic heterogeneity.

Grimes DA, Bulman D, George-Hyslop PS, Lang AE.

Mov Disord. 2001 Jan;16(1):106-10.

PMID:
11215567
23.

Mutation of conserved aspartates affects maturation of both aspartate mutant and endogenous presenilin 1 and presenilin 2 complexes.

Yu G, Chen F, Nishimura M, Steiner H, Tandon A, Kawarai T, Arawaka S, Supala A, Song YQ, Rogaeva E, Holmes E, Zhang DM, Milman P, Fraser PE, Haass C, George-Hyslop PS.

J Biol Chem. 2000 Sep 1;275(35):27348-53.

24.

The genetics of Alzheimer's disease.

Brindle N, George-Hyslop PS.

Methods Mol Med. 2000;32:23-43. doi: 10.1385/1-59259-195-7:23.

PMID:
21318509
25.

Presenilin 1 controls gamma-secretase processing of amyloid precursor protein in pre-golgi compartments of hippocampal neurons.

Annaert WG, Levesque L, Craessaerts K, Dierinck I, Snellings G, Westaway D, George-Hyslop PS, Cordell B, Fraser P, De Strooper B.

J Cell Biol. 1999 Oct 18;147(2):277-94.

26.

Localisation of presenilin 2 in human and rodent pancreatic islet beta-cells; Met239Val presenilin 2 variant is not associated with diabetes in man.

Jaikaran ET, Marcon G, Levesque L, George-Hyslop PS, Fraser PE, Clark A.

J Cell Sci. 1999 Jul;112 ( Pt 13):2137-44.

27.

Proteolytic processing of the Alzheimer disease-associated presenilin-1 generates an in vivo substrate for protein kinase C.

Walter J, Grünberg J, Capell A, Pesold B, Schindzielorz A, Citron M, Mendla K, George-Hyslop PS, Multhaup G, Selkoe DJ, Haass C.

Proc Natl Acad Sci U S A. 1997 May 13;94(10):5349-54.

28.

Evidence for phosphorylation and oligomeric assembly of presenilin 1.

Seeger M, Nordstedt C, Petanceska S, Kovacs DM, Gouras GK, Hahne S, Fraser P, Levesque L, Czernik AJ, George-Hyslop PS, Sisodia SS, Thinakaran G, Tanzi RE, Greengard P, Gandy S.

Proc Natl Acad Sci U S A. 1997 May 13;94(10):5090-4.

29.

Phosphorylation, subcellular localization, and membrane orientation of the Alzheimer's disease-associated presenilins.

De Strooper B, Beullens M, Contreras B, Levesque L, Craessaerts K, Cordell B, Moechars D, Bollen M, Fraser P, George-Hyslop PS, Van Leuven F.

J Biol Chem. 1997 Feb 7;272(6):3590-8.

30.

Molecular genetics of Alzheimer disease amyloid.

Tanzi RE, George-Hyslop PS, Gusella JF.

J Biol Chem. 1991 Nov 5;266(31):20579-82. Review. No abstract available.

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