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The Arctic AβPP mutation leads to Alzheimer's disease pathology with highly variable topographic deposition of differentially truncated Aβ.
Kalimo H, Lalowski M, Bogdanovic N, Philipson O, Bird TD, Nochlin D, Schellenberg GD, Brundin R, Olofsson T, Soliymani R, Baumann M, Wirths O, Bayer TA, Nilsson LN, Basun H, Lannfelt L, Ingelsson M. Kalimo H, et al. Among authors: brundin r. Acta Neuropathol Commun. 2013 Sep 10;1:60. doi: 10.1186/2051-5960-1-60. Acta Neuropathol Commun. 2013. PMID: 24252272 Free PMC article.
The Uppsala APP deletion causes early onset autosomal dominant Alzheimer's disease by altering APP processing and increasing amyloid β fibril formation.
Pagnon de la Vega M, Giedraitis V, Michno W, Kilander L, Güner G, Zielinski M, Löwenmark M, Brundin R, Danfors T, Söderberg L, Alafuzoff I, Nilsson LNG, Erlandsson A, Willbold D, Müller SA, Schröder GF, Hanrieder J, Lichtenthaler SF, Lannfelt L, Sehlin D, Ingelsson M. Pagnon de la Vega M, et al. Among authors: brundin r. Sci Transl Med. 2021 Aug 11;13(606):eabc6184. doi: 10.1126/scitranslmed.abc6184. Sci Transl Med. 2021. PMID: 34380771
CALHM1 P86L polymorphism does not alter amyloid-beta or tau in cerebrospinal fluid.
Giedraitis V, Glaser A, Sarajärvi T, Brundin R, Gunnarsson MD, Schjeide BM, Tanzi RE, Helisalmi S, Pirttilä T, Kilander L, Lannfelt L, Soininen H, Bertram L, Ingelsson M, Hiltunen M. Giedraitis V, et al. Among authors: brundin r. Neurosci Lett. 2010 Jan 22;469(2):265-7. doi: 10.1016/j.neulet.2009.12.011. Epub 2009 Dec 23. Neurosci Lett. 2010. PMID: 20005921 Free PMC article.
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, Fr… See abstract for full author list ➔ Kunkle BW, et al. Among authors: brundin r. Nat Genet. 2019 Mar;51(3):414-430. doi: 10.1038/s41588-019-0358-2. Epub 2019 Feb 28. Nat Genet. 2019. PMID: 30820047 Free PMC article.
New Alzheimer's disease locus on chromosome 8.
Giedraitis V, Hedlund M, Skoglund L, Blom E, Ingvast S, Brundin R, Lannfelt L, Glaser A. Giedraitis V, et al. Among authors: brundin r. J Med Genet. 2006 Dec;43(12):931-5. doi: 10.1136/jmg.2006.043000. Epub 2006 Jul 6. J Med Genet. 2006. PMID: 16825432 Free PMC article.
Improved Differential Diagnosis of Alzheimer's Disease by Integrating ELISA and Mass Spectrometry-Based Cerebrospinal Fluid Biomarkers.
Khoonsari PE, Shevchenko G, Herman S, Remnestål J, Giedraitis V, Brundin R, Degerman Gunnarsson M, Kilander L, Zetterberg H, Nilsson P, Lannfelt L, Ingelsson M, Kultima K. Khoonsari PE, et al. Among authors: brundin r. J Alzheimers Dis. 2019;67(2):639-651. doi: 10.3233/JAD-180855. J Alzheimers Dis. 2019. PMID: 30614806 Free PMC article.
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