Entry |
|
Name |
Mutation-caused aberrant SOD1 to PERK-ATF4 signaling pathway
|
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
|
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 |
|
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 |
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