Article
Altered cleavage and secretion of a recombinant beta-APP bearing the Swedish familial Alzheimer's disease mutation.
Nature genetics - 1 Mar 1994
Felsenstein K M, Hunihan L W, Roberts S B
Abstract excerpt
Mutations within the beta-amyloid precursor protein gene cosegregate with the early-onset form of familial Alzheimer's Disease (FAD). It is not known how these mutations result in disease; however, one early-onset AD mutation in a Swedish kindred increases potentially amyloidogenic fragments and...
Topics
- Alzheimer Disease
- Amyloid beta-Protein Precursor
- Cell Line
- Cloning, Molecular
- Genes, Reporter
- Glycosylation
- Humans
- Mutation
- Protein Processing, Post-Translational
- Recombinant Fusion Proteins
- Sweden
- Transfection