An Alzheimer's Disease-Linked PS1 Variant Rescues the Developmental Abnormalities of PS1-Deficient Embryos

Neuron, pp. 603-609, 1998.

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Abstract:

Mutations in presenilin 1 (PS1) cosegregate with ∼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 Aβ1–42/43 peptides. PS1 is homologous to sel-12, a C. elega...More

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