KEGG   VARIANT: 10133v1
Entry
10133v1                      Variant                               

Name
OPTN mutation
Gene
OPTN  optineurin [KO:K19946]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 10133
Network
nt06421  Mitophagy
nt06464  Amyotrophic lateral sclerosis
  Element
N01138  Mutation-inactivated OPTN to PINK-Parkin-mediated autophagosome formation
Reference
  Authors
Maruyama H, Morino H, Ito H, Izumi Y, Kato H, Watanabe Y, Kinoshita Y, Kamada M, Nodera H, Suzuki H, Komure O, Matsuura S, Kobatake K, Morimoto N, Abe K, Suzuki N, Aoki M, Kawata A, Hirai T, Kato T, Ogasawara K, Hirano A, Takumi T, Kusaka H, Hagiwara K, Kaji R, Kawakami H
  Title
Mutations of optineurin in amyotrophic lateral sclerosis.
  Journal
Nature 465:223-6 (2010)
DOI:10.1038/nature08971
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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