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Mutant presenilins of Alzheimer's disease increase production of 42-residue amyloid beta-protein in both transfected cells and transgenic mice.
Citron M, Westaway D, Xia W, Carlson G, Diehl T, Levesque G, Johnson-Wood K, Lee M, Seubert P, Davis A, Kholodenko D, Motter R, Sherrington R, Perry B, Yao H, Strome R, Lieberburg I, Rommens J, Kim S, Schenk D, Fraser P, St George Hyslop P, Selkoe DJ. Citron M, et al. Nat Med. 1997 Jan;3(1):67-72. doi: 10.1038/nm0197-67. Nat Med. 1997. PMID: 8986743
Dissociated phenotypes in presenilin transgenic mice define functionally distinct gamma-secretases.
Mastrangelo P, Mathews PM, Chishti MA, Schmidt SD, Gu Y, Yang J, Mazzella MJ, Coomaraswamy J, Horne P, Strome B, Pelly H, Levesque G, Ebeling C, Jiang Y, Nixon RA, Rozmahel R, Fraser PE, St George-Hyslop P, Carlson GA, Westaway D. Mastrangelo P, et al. Proc Natl Acad Sci U S A. 2005 Jun 21;102(25):8972-7. doi: 10.1073/pnas.0500940102. Epub 2005 Jun 10. Proc Natl Acad Sci U S A. 2005. PMID: 15951428 Free PMC article.
Oligomerization of human presenilin-1 fragments.
Hébert SS, Godin C, Lévesque G. Hébert SS, et al. FEBS Lett. 2003 Aug 28;550(1-3):30-4. doi: 10.1016/s0014-5793(03)00813-5. FEBS Lett. 2003. PMID: 12935881 Free article.
Presenilin-1 is indirectly implicated in Notch1 cleavage.
Godin C, Auclair A, Ferland M, Hébert SS, Carreau M, Lévesque G. Godin C, et al. Neuroreport. 2003 Aug 26;14(12):1613-6. doi: 10.1097/00001756-200308260-00014. Neuroreport. 2003. PMID: 14502086