KEGG   NETWORK: N00966
Entry
N00966                      Network                                

Name
Mutation-caused aberrant ATXN1 to RORA-mediated transcription
Definition
ATXN1* -| (RORA+KAT5) => (ITPR1,SLC1A6,GRM1)
  Expanded
6310v1 -| (6095+10524) => (3708,6511,2911)
Class
nt06440 Transcription
nt06462 Spinocerebellar ataxia
Type
Variant
Pathway
hsa05017  Spinocerebellar ataxia
Disease
H00063  Spinocerebellar ataxia (SCA)
Gene
6310  ATXN1; ataxin 1
6095  RORA; RAR related orphan receptor A
10524  KAT5; lysine acetyltransferase 5
3708  ITPR1; inositol 1,4,5-trisphosphate receptor type 1
6511  SLC1A6; solute carrier family 1 member 6
2911  GRM1; glutamate metabotropic receptor 1
Variant
6310v1 (ATXN1*)  ATXN1 mutation
Reference
  Authors
Serra HG, Duvick L, Zu T, Carlson K, Stevens S, Jorgensen N, Lysholm A, Burright E, Zoghbi HY, Clark HB, Andresen JM, Orr HT
  Title
RORalpha-mediated Purkinje cell development determines disease severity in adult SCA1 mice.
  Journal
Cell 127:697-708 (2006)
DOI:10.1016/j.cell.2006.09.036
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
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
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