| Entry |
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| Name |
Mutation-caused aberrant PSEN1 to PERK-ATF4 signaling pathway
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| Definition |
PSEN1* -| EIF2AK3 -> EIF2S1 -> ATF4 => DDIT3 |
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| Expanded |
5663v1 -| 9451 -> 1965 -> 468 => 1649 |
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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 |
| 9451 | EIF2AK3; eukaryotic translation initiation factor 2 alpha kinase 3 |
| 1965 | EIF2S1; eukaryotic translation initiation factor 2 subunit alpha |
| 468 | ATF4; activating transcription factor 4 |
| 1649 | DDIT3; DNA damage inducible transcript 3 |
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| Variant |
5663v1 (PSEN1*) PSEN1 mutation
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| Reference |
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| Authors |
Mahdi AA, Rizvi SH, Parveen A |
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| Title |
Role of Endoplasmic Reticulum Stress and Unfolded Protein Responses in Health and Diseases. |
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| Journal |
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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 |
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| 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 |
Sprenkle NT, Sims SG, Sanchez CL, Meares GP |
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| Title |
Endoplasmic reticulum stress and inflammation in the central nervous system. |
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| Journal |
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| LinkDB |
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