Article
An Alzheimer's disease-linked PS1 variant rescues the developmental abnormalities of PS1-deficient embryos.
Neuron - 1 Mar 1998
Davis J A, Naruse S, Chen H, Eckman C, Younkin S, Price D L, Borchelt D R, Sisodia S S, Wong P C
Abstract excerpt
Mutations in presenilin 1 (PS1) cosegregate with approximately 25% of early onset familial Alzheimer's disease (FAD) pedigrees. A variety of in vitro and in vivo paradigms have established that one mechanism by which PS1 variants cause AD is by elevating the production of highly amyloidogenic Abeta1-42/43 peptides. PS1 is homologous to sel-12, a C. elegans protein that facilitates signaling mediated by the...
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