| Entry |
|
| Name |
Mutation-caused aberrant Abeta to mAchR-Ca2+ -apoptotic pathway
|
| Definition |
APP* -> Abeta -> mAChR -> GNAQ -> PLCB -> IP3 -> ITPR -> Ca2+ -- MCU -> Ca2+(mito) -- MPTP -> CYCS |
| Expanded |
351v1 -> (C16515,C16514) -> (1128,1131,1133) -> 2776 -> (23236,5330,5331,5332) -> C01245 -> (3708,3709,3710) -> C00076 -- 90550 -> C00076 -- (7416,7417,7419,291,292,293,83447) -> 54205 |
| Class |
|
| Type |
Variant
|
| Pathway |
|
| Disease |
|
| Gene |
| 351 | APP; amyloid beta precursor protein |
| 1128 | CHRM1; cholinergic receptor muscarinic 1 |
| 1131 | CHRM3; cholinergic receptor muscarinic 3 |
| 1133 | CHRM5; cholinergic receptor muscarinic 5 |
| 2776 | GNAQ; G protein subunit alpha q |
| 23236 | PLCB1; phospholipase C beta 1 |
| 5330 | PLCB2; phospholipase C beta 2 |
| 5331 | PLCB3; phospholipase C beta 3 |
| 5332 | PLCB4; phospholipase C beta 4 |
| 3708 | ITPR1; inositol 1,4,5-trisphosphate receptor type 1 |
| 3709 | ITPR2; inositol 1,4,5-trisphosphate receptor type 2 |
| 3710 | ITPR3; inositol 1,4,5-trisphosphate receptor type 3 |
| 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 |
| C01245 | D-myo-Inositol 1,4,5-trisphosphate |
|
| Reference |
|
| Authors |
Sushma, Mondal AC |
| Title |
Role of GPCR signaling and calcium dysregulation in Alzheimer's disease. |
| Journal |
|
| Reference |
|
| Authors |
Popugaeva E, Pchitskaya E, Bezprozvanny I |
| Title |
Dysregulation of Intracellular Calcium Signaling in Alzheimer's Disease. |
| Journal |
|
| Reference |
|
| Authors |
Sanz-Blasco S, Valero RA, Rodriguez-Crespo I, Villalobos C, Nunez L |
| Title |
Mitochondrial Ca2+ overload underlies Abeta oligomers neurotoxicity providing an unexpected mechanism of neuroprotection by NSAIDs. |
| Journal |
|
| LinkDB |
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