| Entry |
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| Name |
Mutation-caused aberrant Abeta to transport of calcium
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| Definition |
APP* -> Abeta -> NMDAR -> Ca2+ -- MCU -> Ca2+(mito) -- MPTP -> CYCS |
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| Expanded |
351v1 -> (C16515,C16514) -> (2902+(2903,2904,2905,2906)) -> C00076 -- 90550 -> C00076 -- (7416,7417,7419,291,292,293,83447) -> 54205 |
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| Class |
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| Type |
Variant
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| Pathway |
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| Disease |
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| Gene |
| 351 | APP; amyloid beta precursor protein |
| 2902 | GRIN1; glutamate ionotropic receptor NMDA type subunit 1 |
| 2903 | GRIN2A; glutamate ionotropic receptor NMDA type subunit 2A |
| 2904 | GRIN2B; glutamate ionotropic receptor NMDA type subunit 2B |
| 2905 | GRIN2C; glutamate ionotropic receptor NMDA type subunit 2C |
| 2906 | GRIN2D; glutamate ionotropic receptor NMDA type subunit 2D |
| 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 |
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| Variant |
351v1 (APP*) APP mutation
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| Metabolite |
| C16515 | Beta-amyloid protein 42 |
| C16514 | Beta-amyloid protein 40 |
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| Reference |
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| Authors |
Sanz-Blasco S, Valero RA, Rodriguez-Crespo I, Villalobos C, Nunez L |
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| Title |
Mitochondrial Ca2+ overload underlies Abeta oligomers neurotoxicity providing an unexpected mechanism of neuroprotection by NSAIDs. |
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| Journal |
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| Reference |
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| Authors |
Popugaeva E, Pchitskaya E, Bezprozvanny I |
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| Title |
Dysregulation of Intracellular Calcium Signaling in Alzheimer's Disease. |
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| Journal |
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| LinkDB |
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