Article
Presenilin-1 mutation L271V results in altered exon 8 splicing and Alzheimer's disease with non-cored plaques and no neuritic dystrophy.
The Journal of biological chemistry - 28 Feb 2003
Kwok John B J, Halliday Glenda M, Brooks William S, Dolios Georgia, Laudon Hanna, Murayama Ohoshi, Hallupp Marianne, Badenhop Renee F, Vickers James, Wang Rong, Naslund Jan, Takashima Akihiko, Gandy Samuel E, Schofield Peter R
Abstract excerpt
The mutation L271V in exon 8 of the presenilin-1 (PS-1) gene was detected in an Alzheimer's disease pedigree. Neuropathological examination of affected individuals identified variant, large, non-cored plaques without neuritic dystrophy, reminiscent of cotton wool plaques. Biochemical analysis of L271V mutation showed that it increased secretion of the 42-amino acid amyloid-beta peptide, suggesting a pathogenic...
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