KEGG   VARIANT: 8878v1
Entry
8878v1                      Variant                                

Name
SQSTM1 mutation
Gene
SQSTM1  sequestosome 1 [KO:K14381]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 601530
Network
nt06421  Mitophagy
nt06464  Amyotrophic lateral sclerosis
  Element
N01139  Mutation-inactivated p62 to PINK-Parkin-mediated autophagosome formation
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
Fecto F, Yan J, Vemula SP, Liu E, Yang Y, Chen W, Zheng JG, Shi Y, Siddique N, Arrat H, Donkervoort S, Ajroud-Driss S, Sufit RL, Heller SL, Deng HX, Siddique T
  Title
SQSTM1 mutations in familial and sporadic amyotrophic lateral sclerosis.
  Journal
Arch Neurol 68:1440-6 (2011)
DOI:10.1001/archneurol.2011.250

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