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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: naslund j. 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.
The large hydrophilic loop of presenilin 1 is important for regulating gamma-secretase complex assembly and dictating the amyloid beta peptide (Abeta) Profile without affecting Notch processing.
Wanngren J, Frånberg J, Svensson AI, Laudon H, Olsson F, Winblad B, Liu F, Näslund J, Lundkvist J, Karlström H. Wanngren J, et al. Among authors: naslund j. J Biol Chem. 2010 Mar 19;285(12):8527-36. doi: 10.1074/jbc.M109.055590. Epub 2010 Jan 27. J Biol Chem. 2010. PMID: 20106965 Free PMC article.
A nine-transmembrane domain topology for presenilin 1.
Laudon H, Hansson EM, Melén K, Bergman A, Farmery MR, Winblad B, Lendahl U, von Heijne G, Näslund J. Laudon H, et al. Among authors: naslund j. J Biol Chem. 2005 Oct 21;280(42):35352-60. doi: 10.1074/jbc.M507217200. Epub 2005 Jul 25. J Biol Chem. 2005. PMID: 16046406 Free article.
Amyloid beta pathology in Alzheimer's disease and schizophrenia.
Religa D, Laudon H, Styczynska M, Winblad B, Näslund J, Haroutunian V. Religa D, et al. Among authors: naslund j. Am J Psychiatry. 2003 May;160(5):867-72. doi: 10.1176/appi.ajp.160.5.867. Am J Psychiatry. 2003. PMID: 12727689
313 results