| Entry |
|
| Name |
Mutation-caused aberrant SOD1 to IRE1a-XBP1 signaling pathway
|
| Definition |
SOD1* -| BIP -| ERN1 -> XBP1 |
| Expanded |
6647v1 -| 3309 -| 2081 -> 7494 |
| Class |
nt06534 Unfolded protein response
nt06464 Amyotrophic lateral sclerosis
nt06466 Pathways of neurodegeneration
|
| Type |
Variant
|
| Pathway |
|
| Disease |
| H00058 | Amyotrophic lateral sclerosis (ALS) |
|
| Gene |
| 6647 | SOD1; superoxide dismutase 1 |
| 3309 | HSPA5; heat shock protein family A (Hsp70) member 5 |
| 2081 | ERN1; endoplasmic reticulum to nucleus signaling 1 |
| 7494 | XBP1; X-box binding protein 1 |
|
| Variant |
|
| Reference |
|
| Authors |
Turner BJ, Atkin JD |
| Title |
ER stress and UPR in familial amyotrophic lateral sclerosis. |
| Journal |
|
| Reference |
|
| Authors |
Walker AK, Atkin JD |
| Title |
Stress signaling from the endoplasmic reticulum: A central player in the pathogenesis of amyotrophic lateral sclerosis. |
| Journal |
|
| Reference |
|
| Authors |
Ramesh N, Pandey UB |
| Title |
Autophagy Dysregulation in ALS: When Protein Aggregates Get Out of Hand. |
| Journal |
|
| LinkDB |
|