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
nt06464  Amyotrophic lateral sclerosis
nt06466  Pathways of neurodegeneration
nt06534  Unfolded protein response
Disease
H00058  Amyotrophic lateral sclerosis (ALS)
Drug target
Tofersen: D11811<US>
Reference
  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
  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
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