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 |
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LinkDB |
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