KEGG   VARIANT: 65018v1
Entry
65018v1                      Variant                               
Name
PINK1 mutation
Type
Loss of function
Gene
PINK1  PTEN induced kinase 1 [KO:K05688]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 608309
Network
nt06463  Parkinson disease
nt06466  Pathways of neurodegeneration
nt06536  Mitophagy
Disease
H00057  Parkinson disease
H01600  Parkinsonian syndrome
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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