| Entry |
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| Name |
Mutation-caused aberrant SOD1 to ATF6-mediated transcription
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| Definition |
SOD1* -| BIP -| ATF6 => DDIT3 |
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| Expanded |
6647v1 -| 3309 -| 22926 => 1649 |
|---|
| Class |
nt06534 Unfolded protein response
nt06464 Amyotrophic lateral sclerosis
nt06466 Pathways of neurodegeneration
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| Type |
Variant
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| Pathway |
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| Disease |
| H00058 | Amyotrophic lateral sclerosis (ALS) |
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| Gene |
| 6647 | SOD1; superoxide dismutase 1 |
| 3309 | HSPA5; heat shock protein family A (Hsp70) member 5 |
| 22926 | ATF6; activating transcription factor 6 |
| 1649 | DDIT3; DNA damage inducible transcript 3 |
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| Variant |
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| Reference |
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| Authors |
Kikuchi H, Almer G, Yamashita S, Guegan C, Nagai M, Xu Z, Sosunov AA, McKhann GM 2nd, Przedborski S |
|---|
| Title |
Spinal cord endoplasmic reticulum stress associated with a microsomal accumulation of mutant superoxide dismutase-1 in an ALS model. |
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| Journal |
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| Reference |
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| Authors |
Walker AK, Atkin JD |
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| Title |
Stress signaling from the endoplasmic reticulum: A central player in the pathogenesis of amyotrophic lateral sclerosis. |
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| Journal |
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| Reference |
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| Authors |
Turner BJ, Atkin JD |
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| Title |
ER stress and UPR in familial amyotrophic lateral sclerosis. |
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| Journal |
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| Reference |
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| Authors |
Doyle KM, Kennedy D, Gorman AM, Gupta S, Healy SJ, Samali A |
|---|
| Title |
Unfolded proteins and endoplasmic reticulum stress in neurodegenerative disorders. |
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| Journal |
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| LinkDB |
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