Entry |
|
Name |
Mutation-caused aberrant ATXN1 to RORA-mediated transcription
|
Definition |
ATXN1* -| (RORA+KAT5) => (ITPR1,SLC1A6,GRM1) |
Expanded |
6310v1 -| (6095+10524) => (3708,6511,2911) |
Class |
|
Type |
Variant
|
Pathway |
|
Disease |
H00063 | Spinocerebellar ataxia (SCA) |
|
Gene |
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 |
|
Reference |
|
Authors |
Kasumu A, Bezprozvanny I |
Title |
Deranged calcium signaling in Purkinje cells and pathogenesis in spinocerebellar ataxia 2 (SCA2) and other ataxias. |
Journal |
|
Reference |
|
Authors |
Hisatsune C, Hamada K, Mikoshiba K |
Title |
Ca(2+) signaling and spinocerebellar ataxia. |
Journal |
|
LinkDB |
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