KEGG   VARIANT: 6647v1
Entry
6647v1                      Variant                                
Name
SOD1 mutation
Gene
SOD1  superoxide dismutase 1 [KO:K04565]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 147450
Network
nt06412  Unfolded protein response (UPR) signaling
nt06414  Apoptosis
nt06419  Microtubule-based transport
nt06420  Ubiquitin-proteasome system
nt06464  Amyotrophic lateral sclerosis
  Element
N01135  Mutation-caused aberrant SOD1 to intrinsic apoptotic pathway
N01144  Mutation-caused aberrant SOD1 to 26S proteasome-mediated protein degradation
N01147  Mutation-caused aberrant SOD1 to ATF6-mediated transcription
N01148  Mutation-caused aberrant SOD1 to IRE1a-XBP1 signaling pathway
N01149  Mutation-caused aberrant SOD1 to PERK-ATF4 signaling pathway
N01160  Mutation-caused aberrant SOD1 to retrograde axonal transport
Disease
H00058  Amyotrophic lateral sclerosis (ALS)
Reference
PMID:29605155
  Authors
Nguyen HP, Van Broeckhoven C, van der Zee J
  Title
ALS Genes in the Genomic Era and their Implications for FTD.
  Journal
Trends Genet 34:404-423 (2018)
DOI:10.1016/j.tig.2018.03.001
Reference
PMID:28852382
  Authors
Khalil B, Lievens JC
  Title
Mitochondrial quality control in amyotrophic lateral sclerosis: towards a common pathway?
  Journal
Neural Regen Res 12:1052-1061 (2017)
DOI:10.4103/1673-5374.211179

  All links  
Disease (1)   
   KEGG DISEASE (1)   
Gene (1)   
   OMIMVAR (1)   
Literature (2)   
   PubMed (2)   
All databases (4)   

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