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.
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