KEGG   NETWORK: N00957
Entry
N00957                      Network                                

Name
Mutation-caused abberant ATXN2/3 to mGluR5-Ca2+ -apoptotic pathway
Definition
Glutamate -> GRM1 -> GNAQ -> PLCB -> IP3 -> (ITPR1+(ATXN2*,ATXN3*)) -> Ca2+ -- MCU -> Ca2+(mito) -- MPTP -> CYCS
  Expanded
C00025 -> 2911 -> 2776 -> (23236,5330,5331,5332) -> C01245 -> (3708+(6311v1,4287v1)) -> C00076 -- 90550 -> C00076 -- (7416,7417,7419,291,292,293,83447) -> 54205
Class
nt06410 Calcium signaling
nt06462 Spinocerebellar ataxia
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
6311  ATXN2; ataxin 2
4287  ATXN3; ataxin 3
90550  MCU; mitochondrial calcium uniporter
7416  VDAC1; voltage dependent anion channel 1
7417  VDAC2; voltage dependent anion channel 2
7419  VDAC3; voltage dependent anion channel 3
291  SLC25A4; solute carrier family 25 member 4
292  SLC25A5; solute carrier family 25 member 5
293  SLC25A6; solute carrier family 25 member 6
83447  SLC25A31; solute carrier family 25 member 31
54205  CYCS; cytochrome c, somatic
Variant
6311v1 (ATXN2*)  ATXN2 mutation
4287v1 (ATXN3*)  ATXN3 mutation
Metabolite
C00025  L-Glutamate
C01245  D-myo-Inositol 1,4,5-trisphosphate
C00076  Calcium cation
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
Shimobayashi E, Kapfhammer JP
  Title
Calcium Signaling, PKC Gamma, IP3R1 and CAR8 Link Spinocerebellar Ataxias and Purkinje Cell Dendritic Development.
  Journal
Curr Neuropharmacol 16:151-159 (2018)
DOI:10.2174/1570159X15666170529104000
Reference
  Authors
Liu J, Tang TS, Tu H, Nelson O, Herndon E, Huynh DP, Pulst SM, Bezprozvanny I
  Title
Deranged calcium signaling and neurodegeneration in spinocerebellar ataxia type 2.
  Journal
J Neurosci 29:9148-62 (2009)
DOI:10.1523/JNEUROSCI.0660-09.2009
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
Prestori F, Moccia F, D'Angelo E
  Title
Disrupted Calcium Signaling in Animal Models of Human Spinocerebellar Ataxia (SCA).
  Journal
Int J Mol Sci 21:E216 (2019)
DOI:10.3390/ijms21010216
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