Entry |
|
Name |
Mutation-inactivated CACNA1A to VGCC-Ca2- -apoptotic pathway
|
Definition |
Ca2+(extracellular) // CACNA1A* // Ca2+ |
Expanded |
C00076 // 773v1 // C00076 |
Class |
|
Type |
Variant
|
Pathway |
|
Disease |
H00063 | Spinocerebellar ataxia (SCA) |
|
Gene |
773 | CACNA1A; calcium voltage-gated channel subunit alpha1 A |
|
Variant |
773v1 (CACNA1A*) CACNA1A mutation
|
Metabolite |
|
Reference |
|
Authors |
Pulst SM, Santos N, Wang D, Yang H, Huynh D, Velazquez L, Figueroa KP |
Title |
Spinocerebellar ataxia type 2: polyQ repeat variation in the CACNA1A calcium channel modifies age of onset. |
Journal |
|
Reference |
|
Authors |
Gomez CM |
Title |
Polyglutamine aggregates in SCA6 Purkinje cells: a tail of two toxicities. |
Journal |
|
Reference |
|
Authors |
Duenas AM, Goold R, Giunti P |
Title |
Molecular pathogenesis of spinocerebellar ataxias. |
Journal |
|
Reference |
|
Authors |
Matsuyama Z, Yanagisawa NK, Aoki Y, Black JL 3rd, Lennon VA, Mori Y, Imoto K, Inuzuka T |
Title |
Polyglutamine repeats of spinocerebellar ataxia 6 impair the cell-death-preventing effect of CaV2.1 Ca2+ channel--loss-of-function cellular model of SCA6. |
Journal |
|