Figure 1.

Effect of different causal APP and PSEN1 mutations on APP processing and Aβ generation. (A) Schematic presentation of the APP protein structure. Right, the effect of APP mutations on APP processing is given according to their location relative to the Aβ peptide. The additional effects of the N-terminal recessive mutations A673V and E693Δ are indicated by the ‘+’ symbol. Left, the effect of whole APP gene or locus duplications is depicted. (B) Schematic presentation of the PSEN protein structure. Boxes represent the transmembrane regions that are separated by hydrophilic loops. The effect of different mutations scattered throughout the protein is summarized.