| Entry |
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| Name |
Mutation-caused aberrant SOD1 to PERK-ATF4 signaling pathway
|
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| Definition |
SOD1* -| BIP -| EIF2AK3 -> EIF2S1 -> ATF4 => DDIT3 |
|---|
| Expanded |
6647v1 -| 3309 -| 9451 -> 1965 -> 468 => 1649 |
|---|
| Class |
nt06534 Unfolded protein response
nt06464 Amyotrophic lateral sclerosis
nt06466 Pathways of neurodegeneration
|
|---|
| Type |
Variant
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|---|
| Pathway |
|
|---|
| Disease |
| H00058 | Amyotrophic lateral sclerosis (ALS) |
|
|---|
| Gene |
| 6647 | SOD1; superoxide dismutase 1 |
| 3309 | HSPA5; heat shock protein family A (Hsp70) member 5 |
| 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 |
|
|---|
| Variant |
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|---|
| Reference |
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|---|
| Authors |
Turner BJ, Atkin JD |
|---|
| Title |
ER stress and UPR in familial amyotrophic lateral sclerosis. |
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| Journal |
|
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| Reference |
|
|---|
| Authors |
Walker AK, Atkin JD |
|---|
| 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 |
|
|---|
| Authors |
Ramesh N, Pandey UB |
|---|
| Title |
Autophagy Dysregulation in ALS: When Protein Aggregates Get Out of Hand. |
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| Journal |
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| LinkDB |
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