Model system | Aβ40 | Aβ42 | Aβ42/Aβ40 | AICD | NICD | N-cadherin | Other phenotypes | Reference |
---|---|---|---|---|---|---|---|---|
PSEN1-M146L | Â | Â | Â | Â | Â | Â | Â | Â |
Overexpression (HEK293, CHO) | → | ↑ | ↑ | ND | ND | ↓ | - | |
Overexpression (PSEN-/-) | ND | ND | ND | ND | → | ND | - | [81] |
Kinetic in vitro assay | → | ↑ | ↑ | ND | ND | ND | - | [83] |
Transgenic mice | ND | ↑ | ↑ | ND | ND | ND | Total Aβ → | [74] |
PSEN1-L166P | Â | Â | Â | Â | Â | Â | Â | Â |
Overexpression (HEK293) | ↓ | ↑ | ↑ | ↓ | ↓ | ND | - | [80] |
Overexpression (PSEN-/-) | ↓ | → | ↑ | ↓ | ↓ | ↓ | APP-CTFs ↑ | [64] |
PSEN1-I213T | Â | Â | Â | Â | Â | Â | Â | Â |
Overexpression (PSEN-/-) | ↓ | ↓ | ↑ | ND | ND | ND | APP-CTFs → | [123] |
Kinetic in vitro assay | ↓ | → | ↑ | ND | ND | ND | - | [84] |
Knock-in mice (heterozygous) | → | ↑ | ↑ | ND | ND | ND | - | [67] |
PSEN1-R278I | Â | Â | Â | Â | Â | Â | Â | Â |
Knock-in mice (heterozygous) | ↓a | → | → | → | → | → | APP-CTFs → | [68] |
Primary cells (from knock-in mice) | ↓ | → | ↑ | ND | → | ND | Total Aβ → Aβ43 ↑ | [68] |
Kinetic in vitro assay | ↓ | ↓ | ND | ↓ | ND | ND | Total Aβ ↓ | [68] |
PSEN1-A246E | Â | Â | Â | Â | Â | Â | Â | Â |
Overexpression (PSEN-/-) | → | → | ↑ | ↓ | → | → | APP-CTFs → | |
Transgenic mice | → | ↑ | ↑ | ND | ND | ND | - | [124] |
Primary cells | ↑ | ↑ | ↑ | ND | ND | ND | - | |
PSEN1-ΔExon9 |  |  |  |  |  |  |  |  |
Overexpression (HEK293) | → | ↑ | ↑ | ↓ | ↓ | ↓ | - | |
Overexpression (PSEN-/-) | ↓ | → | ↑ | ↓ | ↓ | ↓ | APP-CTFs ↑ | |
Transgenic mice | → | ↑ | ↑ | ND | ND | ND | - | [124] |
PSEN1-G384A | Â | Â | Â | Â | Â | Â | Â | Â |
Overexpression (HEK293, CHO) | ↓→ | → | ↑ | ND | ND | ↓ | - | |
Overexpression (PSEN-/-) | ↓→ | → | ↑ | ↓ | ↓ | ↓ | APP-CTFs → | |
Kinetic in vitro assay | ↓ | →↑ | ↑ | ↓ | ND | ND | Total Aβ ↓ | |
PSEN1-C410Y | Â | Â | Â | Â | Â | Â | Â | Â |
Overexpression (PSEN-/-) | ↓ | ↓ | ↑ | ND | ↓ | ND | APP-CTFs ↑ | |
PSEN2-N141I | Â | Â | Â | Â | Â | Â | Â | Â |
Overexpression (COS-1, N2a, CHO) | ↓ | ↑ | ↑ | ND | ND | ND | - | |
Overexpression (PSEN-/-) | ↓ | ↑ | ↑ | ↓ | ↓ | ↓ | APP-CTFs → | |
Kinetic in vitro assay | ↓ | ↑ | ↑ | ND | ND | ND | - | [83] |
Transgenic mice | ↓ | ↑ | ↑ | ND | ND | ND | - | |
Primary cells | →↑ | ↑ | ↑ | ND | ND | ND | - |