KEGG   VARIANT: 11315v1
Entry
11315v1                      Variant                               

Name
PARK7 mutation
Gene
PARK7  Parkinsonism associated deglycase [KO:K05687]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 602533
Network
nt06414  Apoptosis
nt06440  Transcription
nt06463  Parkinson disease
  Element
N01051  Mutation-inactivated DJ1 to intrinsic apoptotic pathway
N01057  Mutation-inactivated DJ1 to FAS-JNK signaling patwhay
N01058  Mutation-inactivated DJ1 to to p53-mediated transcription
N01059  Mutation-inactivated DJ1 to KEAP1-NRF2 signaling pathway
Reference
  Authors
Bonifati V, Rizzu P, van Baren MJ, Schaap O, Breedveld GJ, Krieger E, Dekker MC, Squitieri F, Ibanez P, Joosse M, van Dongen JW, Vanacore N, van Swieten JC, Brice A, Meco G, van Duijn CM, Oostra BA, Heutink P
  Title
Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism.
  Journal
Science 299:256-9 (2003)
DOI:10.1126/science.1077209
Reference
  Authors
Im JY, Lee KW, Woo JM, Junn E, Mouradian MM
  Title
DJ-1 induces thioredoxin 1 expression through the Nrf2 pathway.
  Journal
Hum Mol Genet 21:3013-24 (2012)
DOI:10.1093/hmg/dds131
Reference
  Authors
Abou-Sleiman PM, Healy DG, Quinn N, Lees AJ, Wood NW
  Title
The role of pathogenic DJ-1 mutations in Parkinson's disease.
  Journal
Ann Neurol 54:283-6 (2003)
DOI:10.1002/ana.10675
Reference
  Authors
Hering R, Strauss KM, Tao X, Bauer A, Woitalla D, Mietz EM, Petrovic S, Bauer P, Schaible W, Muller T, Schols L, Klein C, Berg D, Meyer PT, Schulz JB, Wollnik B, Tong L, Kruger R, Riess O
  Title
Novel homozygous p.E64D mutation in DJ1 in early onset Parkinson disease (PARK7).
  Journal
Hum Mutat 24:321-9 (2004)
DOI:10.1002/humu.20089

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