| Entry |
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| Name |
Mutation-inactivated ATXN3 to autophagy-vesicle nucleation
|
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| Definition |
ATXN3* // (BECN1+PIK3C3+ATG14+PIK3R4+AMBRA1) |
|---|
| Expanded |
4287v1 // (8678+5289+22863+30849+55626) |
|---|
| Class |
|
|---|
| Type |
Variant
|
|---|
| Pathway |
|
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| Disease |
| H00063 | Spinocerebellar ataxia (SCA) |
|
|---|
| Gene |
| 5289 | PIK3C3; phosphatidylinositol 3-kinase catalytic subunit type 3 |
| 22863 | ATG14; autophagy related 14 |
| 30849 | PIK3R4; phosphoinositide-3-kinase regulatory subunit 4 |
| 55626 | AMBRA1; autophagy and beclin 1 regulator 1 |
|
|---|
| Variant |
4287v1 (ATXN3*) ATXN3 mutation
|
|---|
| Reference |
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|---|
| Authors |
Ashkenazi A, Bento CF, Ricketts T, Vicinanza M, Siddiqi F, Pavel M, Squitieri F, Hardenberg MC, Imarisio S, Menzies FM, Rubinsztein DC |
|---|
| Title |
Polyglutamine tracts regulate autophagy. |
|---|
| Journal |
|
|---|
| Reference |
|
|---|
| Authors |
Chen RH, Chen YH, Huang TY |
|---|
| Title |
Ubiquitin-mediated regulation of autophagy. |
|---|
| Journal |
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| LinkDB |
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