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
nt06410 Calcium signaling
nt06462 Spinocerebellar ataxia
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
  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
  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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