Article
Physiologically generated presenilin 1 lacking exon 8 fails to rescue brain PS1-/- phenotype and forms complexes with wildtype PS1 and nicastrin.
Scientific reports - 26 Nov 2015
Brautigam Hannah, Moreno Cesar L, Steele John W, Bogush Alexey, Dickstein Dara L, Kwok John B J, Schofield Peter R, Thinakaran Gopal, Mathews Paul M, Hof Patrick R, Gandy Sam, Ehrlich Michelle E
Abstract excerpt
The presenilin 1 (PSEN1) L271V mutation causes early-onset familial Alzheimer's disease by disrupting the alternative splicing of the PSEN1 gene, producing some transcripts harboring the L271V point mutation and other transcripts lacking exon 8 (PS1(∆exon8)). We previously reported that PS1 L271V increased amyloid beta (Aβ) 42/40 ratios, while PS1(∆exon8) reduced Aβ42/40 ratios, indicating that the former and not...
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