KEGG   NETWORK: N01053
Entry
N01053                      Network                                

Name
Mutation-inactivated PINK1 to PINK1-Parkin-mediated MFN2 degradation
Definition
PINK1* // PRKN // MFN1/2
  Expanded
65018v1 // 5071 // (55669,9927)
Class
nt06421 Mitophagy
nt06463 Parkinson disease
Type
Variant
Pathway
hsa05012  Parkinson disease
Disease
H00057  Parkinson disease
Gene
65018  PINK1; PTEN induced kinase 1
5071  PRKN; parkin RBR E3 ubiquitin protein ligase
55669  MFN1; mitofusin 1
9927  MFN2; mitofusin 2
Variant
65018v1  PINK1 mutation
Reference
  Authors
Rakovic A, Grunewald A, Kottwitz J, Bruggemann N, Pramstaller PP, Lohmann K, Klein C
  Title
Mutations in PINK1 and Parkin impair ubiquitination of Mitofusins in human fibroblasts.
  Journal
PLoS One 6:e16746 (2011)
DOI:10.1371/journal.pone.0016746
Reference
  Authors
Devine MJ, Plun-Favreau H, Wood NW
  Title
Parkinson's disease and cancer: two wars, one front.
  Journal
Nat Rev Cancer 11:812-23 (2011)
DOI:10.1038/nrc3150
Reference
  Authors
Truban D, Hou X, Caulfield TR, Fiesel FC, Springer W
  Title
PINK1, Parkin, and Mitochondrial Quality Control: What can we Learn about Parkinson's Disease Pathobiology?
  Journal
J Parkinsons Dis 7:13-29 (2017)
DOI:10.3233/JPD-160989
Reference
  Authors
Puschmann A, Fiesel FC, Caulfield TR, Hudec R, Ando M, Truban D, Hou X, Ogaki K, Heckman MG, James ED, Swanberg M, Jimenez-Ferrer I, Hansson O, Opala G, Siuda J, Boczarska-Jedynak M, Friedman A, Koziorowski D, Rudzinska-Bar M, Aasly JO, Lynch T, Mellick GD, Mohan M, Silburn PA, Sanotsky Y, Vilarino-Guell C, Farrer MJ, Chen L, Dawson VL, Dawson TM, Wszolek ZK, Ross OA, Springer W
  Title
Heterozygous PINK1 p.G411S increases risk of Parkinson's disease via a dominant-negative mechanism.
  Journal
Brain 140:98-117 (2017)
DOI:10.1093/brain/aww261
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