| Entry |
|
| Name |
ITPR1-reduced expression to mGluR1-TRPC3 signaling pathway
|
| Definition |
Glutamate -> GRM1 -> GNAQ -> PLCB -> IP3 -> ITPR1* // Ca2+ |
| Expanded |
C00025 -> 2911 -> 2776 -> (23236,5330,5331,5332) -> C01245 -> 3708v2 // C00076 |
| Class |
|
| Type |
Variant
|
| Pathway |
|
| Disease |
| H00063 | Spinocerebellar ataxia (SCA) |
|
| 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 |
|
| Variant |
3708v2 (ITPR1*) ITPR1 reduced expression
|
| Metabolite |
| C01245 | D-myo-Inositol 1,4,5-trisphosphate |
|
| Reference |
|
| Authors |
Mark MD, Schwitalla JC, Groemmke M, Herlitze S |
| Title |
Keeping Our Calcium in Balance to Maintain Our Balance. |
| Journal |
|
| Reference |
|
| Authors |
Tada M, Nishizawa M, Onodera O |
| Title |
Roles of inositol 1,4,5-trisphosphate receptors in spinocerebellar ataxias. |
| Journal |
|
| Reference |
|
| Authors |
Kasumu A, Bezprozvanny I |
| Title |
Deranged calcium signaling in Purkinje cells and pathogenesis in spinocerebellar ataxia 2 (SCA2) and other ataxias. |
| Journal |
|
| Reference |
|
| Authors |
Takada SH, Ikebara JM, de Sousa E, Cardoso DS, Resende RR, Ulrich H, Ruckl M, Rudiger S, Kihara AH |
| Title |
Determining the Roles of Inositol Trisphosphate Receptors in Neurodegeneration: Interdisciplinary Perspectives on a Complex Topic. |
| Journal |
|
| LinkDB |
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