| Entry |
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| Name |
Mutation-caused aberrant ATXN1 to RORA-mediated transcription
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| Definition |
ATXN1* -| (RORA+KAT5) => (ITPR1,SLC1A6,GRM1) |
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| Expanded |
6310v1 -| (6095+10524) => (3708,6511,2911) |
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| Class |
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| Type |
Variant
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| Pathway |
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| Disease |
| H00063 | Spinocerebellar ataxia (SCA) |
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| 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 |
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| Variant |
6310v1 (ATXN1*) ATXN1 mutation
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| Reference |
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| 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 |
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| Title |
RORalpha-mediated Purkinje cell development determines disease severity in adult SCA1 mice. |
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| Journal |
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| Reference |
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| Authors |
Kasumu A, Bezprozvanny I |
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| Title |
Deranged calcium signaling in Purkinje cells and pathogenesis in spinocerebellar ataxia 2 (SCA2) and other ataxias. |
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| Journal |
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| Reference |
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| Authors |
Hisatsune C, Hamada K, Mikoshiba K |
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| Title |
Ca(2+) signaling and spinocerebellar ataxia. |
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| Journal |
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| LinkDB |
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