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Rare variants in β-Amyloid precursor protein (APP) and Parkinson's disease.
Schulte EC, Fukumori A, Mollenhauer B, Hor H, Arzberger T, Perneczky R, Kurz A, Diehl-Schmid J, Hüll M, Lichtner P, Eckstein G, Zimprich A, Haubenberger D, Pirker W, Brücke T, Bereznai B, Molnar MJ, Lorenzo-Betancor O, Pastor P, Peters A, Gieger C, Estivill X, Meitinger T, Kretzschmar HA, Trenkwalder C, Haass C, Winkelmann J. Schulte EC, et al. Among authors: fukumori a. Eur J Hum Genet. 2015 Oct;23(10):1328-33. doi: 10.1038/ejhg.2014.300. Epub 2015 Jan 21. Eur J Hum Genet. 2015. PMID: 25604855 Free PMC article.
Generation and deposition of Aβ43 by the virtually inactive presenilin-1 L435F mutant contradicts the presenilin loss-of-function hypothesis of Alzheimer's disease.
Kretner B, Trambauer J, Fukumori A, Mielke J, Kuhn PH, Kremmer E, Giese A, Lichtenthaler SF, Haass C, Arzberger T, Steiner H. Kretner B, et al. Among authors: fukumori a. EMBO Mol Med. 2016 May 2;8(5):458-65. doi: 10.15252/emmm.201505952. Print 2016 May. EMBO Mol Med. 2016. PMID: 26988102 Free PMC article.
Novel γ-secretase enzyme modulators directly target presenilin protein.
Ebke A, Luebbers T, Fukumori A, Shirotani K, Haass C, Baumann K, Steiner H. Ebke A, et al. Among authors: fukumori a. J Biol Chem. 2011 Oct 28;286(43):37181-6. doi: 10.1074/jbc.C111.276972. Epub 2011 Sep 6. J Biol Chem. 2011. PMID: 21896486 Free PMC article.
55 results