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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: gandy se. 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.
Two novel (M233T and R278T) presenilin-1 mutations in early-onset Alzheimer's disease pedigrees and preliminary evidence for association of presenilin-1 mutations with a novel phenotype.
Kwok JB, Taddei K, Hallupp M, Fisher C, Brooks WS, Broe GA, Hardy J, Fulham MJ, Nicholson GA, Stell R, St George Hyslop PH, Fraser PE, Kakulas B, Clarnette R, Relkin N, Gandy SE, Schofield PR, Martins RN. Kwok JB, et al. Among authors: gandy se. Neuroreport. 1997 Apr 14;8(6):1537-42. doi: 10.1097/00001756-199704140-00043. Neuroreport. 1997. PMID: 9172170
Estrogen reduces neuronal generation of Alzheimer beta-amyloid peptides.
Xu H, Gouras GK, Greenfield JP, Vincent B, Naslund J, Mazzarelli L, Fried G, Jovanovic JN, Seeger M, Relkin NR, Liao F, Checler F, Buxbaum JD, Chait BT, Thinakaran G, Sisodia SS, Wang R, Greengard P, Gandy S. Xu H, et al. Nat Med. 1998 Apr;4(4):447-51. doi: 10.1038/nm0498-447. Nat Med. 1998. PMID: 9546791
337 results