KEGG   VARIANT: 23435v1
Entry
23435v1                      Variant                               

Name
TARDBP mutation
Gene
TARDBP  TAR DNA binding protein [KO:K23600]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 605078
Network
nt06418  Oxidative phosphorylation
nt06424  RNA processing
nt06464  Amyotrophic lateral sclerosis
  Element
N01136  Mutation-caused aberrant TDP43 to electron transfer in Complex I
N01155  Mutation-caused aberrant TDP43 to TDP-43-regulated splicing
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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