Entry |
|
Name |
Mutation-caused aberrant Abeta to VGCC-Ca2+ -apoptotic pathway
|
Definition |
APP* -> Abeta -> VGCC(L-type) -> Ca2+ -- MCU -> Ca2+(mito) -- MPTP -> CYCS |
Expanded |
351v1 -> (C16515,C16514) -> (775+776+778+779) -> C00076 -- 90550 -> C00076 -- (7416,7417,7419,291,292,293,83447) -> 54205 |
Class |
|
Type |
Variant
|
Pathway |
|
Disease |
|
Gene |
351 | APP; amyloid beta precursor protein |
775 | CACNA1C; calcium voltage-gated channel subunit alpha1 C |
776 | CACNA1D; calcium voltage-gated channel subunit alpha1 D |
778 | CACNA1F; calcium voltage-gated channel subunit alpha1 F |
779 | CACNA1S; calcium voltage-gated channel subunit alpha1 S |
90550 | MCU; mitochondrial calcium uniporter |
7416 | VDAC1; voltage dependent anion channel 1 |
7417 | VDAC2; voltage dependent anion channel 2 |
7419 | VDAC3; voltage dependent anion channel 3 |
291 | SLC25A4; solute carrier family 25 member 4 |
292 | SLC25A5; solute carrier family 25 member 5 |
293 | SLC25A6; solute carrier family 25 member 6 |
83447 | SLC25A31; solute carrier family 25 member 31 |
54205 | CYCS; cytochrome c, somatic |
|
Variant |
351v1 (APP*) APP mutation
|
Metabolite |
C16515 | Beta-amyloid protein 42 |
C16514 | Beta-amyloid protein 40 |
|
Reference |
|
Authors |
Popugaeva E, Pchitskaya E, Bezprozvanny I |
Title |
Dysregulation of Intracellular Calcium Signaling in Alzheimer's Disease. |
Journal |
|
LinkDB |
|