KEGG   NETWORK: N00968
Entry
N00968                      Network                                
Name
Mutation-activated CACNA1A to VGCC-Ca2+ -apoptotic pathway
Definition
Ca2+(extracellular) -- CACNA1A* -> Ca2+
  Expanded
C00076 -- 773v1 -> C00076
Class
nt06462 Spinocerebellar ataxia
nt06466 Pathways of neurodegeneration
Type
Variant
Pathway
hsa05017  Spinocerebellar ataxia
Disease
H00063  Spinocerebellar ataxia (SCA)
Gene
773  CACNA1A; calcium voltage-gated channel subunit alpha1 A
Variant
773v1 (CACNA1A*)  CACNA1A mutation
Metabolite
C00076  Calcium cation
C00076  Calcium cation
Reference
PMID:19345087
  Authors
Carlson KM, Andresen JM, Orr HT
  Title
Emerging pathogenic pathways in the spinocerebellar ataxias.
  Journal
Curr Opin Genet Dev 19:247-53 (2009)
DOI:10.1016/j.gde.2009.02.009
Reference
PMID:10964945
  Authors
Restituito S, Thompson RM, Eliet J, Raike RS, Riedl M, Charnet P, Gomez CM
  Title
The polyglutamine expansion in spinocerebellar ataxia type 6 causes a beta subunit-specific enhanced activation of P/Q-type calcium channels in Xenopus oocytes.
  Journal
J Neurosci 20:6394-403 (2000)
DOI:10.1523/JNEUROSCI.20-17-06394.2000
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