| Entry |
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| Name |
Mutation-caused aberrant PSEN1 to ATF6-mediated transcription
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| Definition |
PSEN1* -| ATF6 => (DDIT3,XBP1) |
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| Expanded |
5663v1 -| 22926 => (1649,7494) |
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| Class |
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| Type |
Variant
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| Pathway |
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| Disease |
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| Gene |
| 22926 | ATF6; activating transcription factor 6 |
| 1649 | DDIT3; DNA damage inducible transcript 3 |
| 7494 | XBP1; X-box binding protein 1 |
|
|---|
| Variant |
5663v1 (PSEN1*) PSEN1 mutation
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| Reference |
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| Authors |
Katayama T, Imaizumi K, Honda A, Yoneda T, Kudo T, Takeda M, Mori K, Rozmahel R, Fraser P, George-Hyslop PS, Tohyama M |
|---|
| Title |
Disturbed activation of endoplasmic reticulum stress transducers by familial Alzheimer's disease-linked presenilin-1 mutations. |
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| Journal |
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| Reference |
|
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| Authors |
Katayama T, Imaizumi K, Manabe T, Hitomi J, Kudo T, Tohyama M |
|---|
| Title |
Induction of neuronal death by ER stress in Alzheimer's disease. |
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| Journal |
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| LinkDB |
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