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Presenilin-1 mutation L271V results in altered exon 8 splicing and Alzheimer's disease with non-cored plaques and no neuritic dystrophy.
Kwok JB, Halliday GM, Brooks WS, Dolios G, Laudon H, Murayama O, Hallupp M, Badenhop RF, Vickers J, Wang R, Naslund J, Takashima A, Gandy SE, Schofield PR. Kwok JB, et al. Among authors: takashima a. J Biol Chem. 2003 Feb 28;278(9):6748-54. doi: 10.1074/jbc.M211827200. Epub 2002 Dec 19. J Biol Chem. 2003. PMID: 12493737 Free article.
Presenilin 1 associates with glycogen synthase kinase-3beta and its substrate tau.
Takashima A, Murayama M, Murayama O, Kohno T, Honda T, Yasutake K, Nihonmatsu N, Mercken M, Yamaguchi H, Sugihara S, Wolozin B. Takashima A, et al. Proc Natl Acad Sci U S A. 1998 Aug 4;95(16):9637-41. doi: 10.1073/pnas.95.16.9637. Proc Natl Acad Sci U S A. 1998. PMID: 9689133 Free PMC article.
756 results