APP mutation | Aβ generation | AICD generation | AICD/ε-cleavage quantifi cation | Reference |
---|---|---|---|---|
KM670/671NL (Swedish) | Total Aβ ↑ in transfected cells (6- to 8-fold) and human FAD fi broblasts (3-fold) | ND | ND | |
Various 717 | Aβ42 ↑ (1.5- to 1.9-fold) | ND | ND | [47] |
T714I, V715M, I716F, V717I, V717F, V717G | Aβ42/40 ↑ for V717I, others ND | AICD → | C99 luciferase reporter | [45] |
T714I, V715M, I716V, V717I, V717L, L723P | All mutants Aβ42/Aβ40 ↑ | T714I: AICD ↓ L723P: AICD ↓ V715M: AICD ↑ I716V: AICD ↑ V717I: AICD → V717L: AICD → | Immunodetection of AICD after in vitro generation in membranes (APP Swedish combined with second mutant) | [46] |
T714I | Aβ42/Aβ40 ↑ (11-fold) | ND | ND | [113] |
V715F | Aβ40 and Aβ42 ↓ Aβ38 ↑ | AICD → | Immunodetection of AICD after in vitro generation in membranes | [123] |
E693Q Dutch | Aβ → | ND | ND | [23] |
A692G Flemish | Aβ40 and Aβ42 ↑ | ND | ND | |
E693G Arctic | Aβ42 ↓ | ND | ND | [26] |
A673V (recessive) | Aβ40 and Aβ42 ↑ Aggregation and fibril formation ↑ in homozygous carriers, but anti-amyloidogenic in heterozygous | ND | ND | [105] |