KEGG   NETWORK: N01149
Entry
N01149                      Network                                

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
nt06412 Unfolded protein response (UPR) signaling
nt06464 Amyotrophic lateral sclerosis
Type
Variant
Pathway
hsa05014  Amyotrophic lateral sclerosis
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
6647v1 (SOD1*)  SOD1 mutation
Reference
  Authors
Turner BJ, Atkin JD
  Title
ER stress and UPR in familial amyotrophic lateral sclerosis.
  Journal
Curr Mol Med 6:79-86 (2006)
DOI:10.2174/156652406775574550
Reference
  Authors
Walker AK, Atkin JD
  Title
Stress signaling from the endoplasmic reticulum: A central player in the pathogenesis of amyotrophic lateral sclerosis.
  Journal
IUBMB Life 63:754-63 (2011)
DOI:10.1002/iub.520
Reference
  Authors
Ramesh N, Pandey UB
  Title
Autophagy Dysregulation in ALS: When Protein Aggregates Get Out of Hand.
  Journal
Front Mol Neurosci 10:263 (2017)
DOI:10.3389/fnmol.2017.00263

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