| Entry |
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| Name |
Mutation-caused abberant ATXN2/3 to mGluR5-Ca2+ -apoptotic pathway
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| Definition |
Glutamate -> GRM1 -> GNAQ -> PLCB -> IP3 -> (ITPR1+(ATXN2*,ATXN3*)) -> Ca2+ -- MCU -> Ca2+(mito) -- MPTP -> CYCS |
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| Expanded |
C00025 -> 2911 -> 2776 -> (23236,5330,5331,5332) -> C01245 -> (3708+(6311v1,4287v1)) -> 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 |
| H00063 | Spinocerebellar ataxia (SCA) |
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| Gene |
| 2911 | GRM1; glutamate metabotropic receptor 1 |
| 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 |
| 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 |
6311v1 (ATXN2*) ATXN2 mutation
4287v1 (ATXN3*) ATXN3 mutation
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| Metabolite |
| C01245 | D-myo-Inositol 1,4,5-trisphosphate |
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| Reference |
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| Authors |
Mark MD, Schwitalla JC, Groemmke M, Herlitze S |
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| Title |
Keeping Our Calcium in Balance to Maintain Our Balance. |
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| Journal |
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| Reference |
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| Authors |
Shimobayashi E, Kapfhammer JP |
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| Title |
Calcium Signaling, PKC Gamma, IP3R1 and CAR8 Link Spinocerebellar Ataxias and Purkinje Cell Dendritic Development. |
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| Journal |
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| Reference |
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| Authors |
Liu J, Tang TS, Tu H, Nelson O, Herndon E, Huynh DP, Pulst SM, Bezprozvanny I |
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| Title |
Deranged calcium signaling and neurodegeneration in spinocerebellar ataxia type 2. |
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| Journal |
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| Reference |
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| Authors |
Kasumu A, Bezprozvanny I |
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| Title |
Deranged calcium signaling in Purkinje cells and pathogenesis in spinocerebellar ataxia 2 (SCA2) and other ataxias. |
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| Journal |
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| Reference |
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| Authors |
Prestori F, Moccia F, D'Angelo E |
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| Title |
Disrupted Calcium Signaling in Animal Models of Human Spinocerebellar Ataxia (SCA). |
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| Journal |
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| LinkDB |
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