KEGG   VARIANT: 65018v1
Entry
65018v1                      Variant                               

Name
PINK1 mutation
Gene
PINK1  PTEN induced kinase 1 [KO:K05688]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 608309
Network
nt06414  Apoptosis
nt06418  Oxidative phosphorylation
nt06421  Mitophagy
nt06463  Parkinson disease
  Element
N01043  Mutation-inactivated PINK1 to electron transfer in Complex I
N01048  Mutation-inactivated PINK1 to intrinsic apoptotic pathway
N01050  Mutation-inactivated PINK1 to intrinsic apoptotic pathway
N01053  Mutation-inactivated PINK1 to PINK1-Parkin-mediated MFN2 degradation
Reference
  Authors
Silvestri L, Caputo V, Bellacchio E, Atorino L, Dallapiccola B, Valente EM, Casari G
  Title
Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive parkinsonism.
  Journal
Hum Mol Genet 14:3477-92 (2005)
DOI:10.1093/hmg/ddi377
Reference
  Authors
Hatano Y, Li Y, Sato K, Asakawa S, Yamamura Y, Tomiyama H, Yoshino H, Asahina M, Kobayashi S, Hassin-Baer S, Lu CS, Ng AR, Rosales RL, Shimizu N, Toda T, Mizuno Y, Hattori N
  Title
Novel PINK1 mutations in early-onset parkinsonism.
  Journal
Ann Neurol 56:424-7 (2004)
DOI:10.1002/ana.20251
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