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The presenilin 2 mutation (N141I) linked to familial Alzheimer disease (Volga German families) increases the secretion of amyloid beta protein ending at the 42nd (or 43rd) residue.
Tomita T, Maruyama K, Saido TC, Kume H, Shinozaki K, Tokuhiro S, Capell A, Walter J, Grünberg J, Haass C, Iwatsubo T, Obata K. Tomita T, et al. Proc Natl Acad Sci U S A. 1997 Mar 4;94(5):2025-30. doi: 10.1073/pnas.94.5.2025. Proc Natl Acad Sci U S A. 1997. PMID: 9050898 Free PMC article.
[Molecular cell biology of presenilins].
Tomita T, Iwatsubo T. Tomita T, et al. Nihon Yakurigaku Zasshi. 1999 Dec;114(6):337-46. doi: 10.1254/fpj.114.337. Nihon Yakurigaku Zasshi. 1999. PMID: 10672594 Review. Japanese.
Mutant presenilin 2 transgenic mouse: effect on an age-dependent increase of amyloid beta-protein 42 in the brain.
Oyama F, Sawamura N, Kobayashi K, Morishima-Kawashima M, Kuramochi T, Ito M, Tomita T, Maruyama K, Saido TC, Iwatsubo T, Capell A, Walter J, Grünberg J, Ueyama Y, Haass C, Ihara Y. Oyama F, et al. Among authors: tomita t. J Neurochem. 1998 Jul;71(1):313-22. doi: 10.1046/j.1471-4159.1998.71010313.x. J Neurochem. 1998. PMID: 9648880 Free article.
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