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KEGG   NETWORK: N00961
Entry
N00961                      Network                                
Name
Mutation-activated TRPC3 to mGluR1-TRPC3 signaling pathway
Definition
TRPC3* -> Ca2+
  Expanded
7222v1 -> C00076
Class
nt06462 Spinocerebellar ataxia
nt06466 Pathways of neurodegeneration
Type
Variant
Pathway
hsa05017  Spinocerebellar ataxia
Disease
H00063  Spinocerebellar ataxia (SCA)
Gene
7222  TRPC3; transient receptor potential cation channel subfamily C member 3
Variant
7222v1 (TRPC3*)  TRPC3 mutation
Metabolite
C00076  Calcium cation
Reference
  Authors
Hisatsune C, Hamada K, Mikoshiba K
  Title
Ca(2+) signaling and spinocerebellar ataxia.
  Journal
Biochim Biophys Acta Mol Cell Res 1865:1733-1744 (2018)
DOI:10.1016/j.bbamcr.2018.05.009
Reference
  Authors
Mark MD, Schwitalla JC, Groemmke M, Herlitze S
  Title
Keeping Our Calcium in Balance to Maintain Our Balance.
  Journal
Biochem Biophys Res Commun 483:1040-1050 (2017)
DOI:10.1016/j.bbrc.2016.07.020
Reference
  Authors
Becker EB, Oliver PL, Glitsch MD, Banks GT, Achilli F, Hardy A, Nolan PM, Fisher EM, Davies KE
  Title
A point mutation in TRPC3 causes abnormal Purkinje cell development and cerebellar ataxia in moonwalker mice.
  Journal
Proc Natl Acad Sci U S A 106:6706-11 (2009)
DOI:10.1073/pnas.0810599106

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