Article
Unusual phenotypic alteration of beta amyloid precursor protein (betaAPP) maturation by a new Val-715 --> Met betaAPP-770 mutation responsible for probable early-onset Alzheimer's disease.
Proceedings of the National Academy of Sciences of the United States of America - 30 Mar 1999
Ancolio K, Dumanchin C, Barelli H, Warter J M, Brice A, Campion D, Frébourg T, Checler F
Abstract excerpt
We have identified a novel beta amyloid precursor protein (betaAPP) mutation (V715M-betaAPP770) that cosegregates with early-onset Alzheimer's disease (AD) in a pedigree. Unlike other familial AD-linked betaAPP mutations reported to date, overexpression of V715M-betaAPP in human HEK293 cells and murine neurons reduces total Abeta production and increases the recovery of the physiologically secreted product,...
Topics
- Age of Onset
- Alzheimer Disease
- Amino Acid Substitution
- Amyloid beta-Peptides
- Amyloid beta-Protein Precursor
- Cell Line
- Female
- Humans
- Male
- Methionine
- Mutagenesis, Site-Directed
- Pedigree
- Phenotype