KEGG   NETWORK: N00959
Entry
N00959                      Network                                
Name
ITPR1-reduced expression to mGluR1-TRPC3 signaling pathway
Definition
Glutamate -> GRM1 -> GNAQ -> PLCB -> IP3 -> ITPR1* // Ca2+
  Expanded
C00025 -> 2911 -> 2776 -> (23236,5330,5331,5332) -> C01245 -> 3708v2 // C00076
Class
nt06462 Spinocerebellar ataxia
nt06466 Pathways of neurodegeneration
Type
Variant
Pathway
hsa05017  Spinocerebellar ataxia
Disease
H00063  Spinocerebellar ataxia (SCA)
Gene
2911  GRM1; glutamate metabotropic receptor 1
2776  GNAQ; G protein subunit alpha q
23236  PLCB1; phospholipase C beta 1
5330  PLCB2; phospholipase C beta 2
5331  PLCB3; phospholipase C beta 3
5332  PLCB4; phospholipase C beta 4
3708  ITPR1; inositol 1,4,5-trisphosphate receptor type 1
Variant
3708v2 (ITPR1*)  ITPR1 reduced expression
Metabolite
C00025  L-Glutamate
C01245  D-myo-Inositol 1,4,5-trisphosphate
C00076  Calcium cation
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
Tada M, Nishizawa M, Onodera O
  Title
Roles of inositol 1,4,5-trisphosphate receptors in spinocerebellar ataxias.
  Journal
Neurochem Int 94:1-8 (2016)
DOI:10.1016/j.neuint.2016.01.007
Reference
  Authors
Kasumu A, Bezprozvanny I
  Title
Deranged calcium signaling in Purkinje cells and pathogenesis in spinocerebellar ataxia 2 (SCA2) and other ataxias.
  Journal
Cerebellum 11:630-9 (2012)
DOI:10.1007/s12311-010-0182-9
Reference
  Authors
Takada SH, Ikebara JM, de Sousa E, Cardoso DS, Resende RR, Ulrich H, Ruckl M, Rudiger S, Kihara AH
  Title
Determining the Roles of Inositol Trisphosphate Receptors in Neurodegeneration: Interdisciplinary Perspectives on a Complex Topic.
  Journal
Mol Neurobiol 54:6870-6884 (2017)
DOI:10.1007/s12035-016-0205-8
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