Mutations in the PARKIN gene (chromosome 6q25–27) were first identified in 1998 as a cause for autosomal-recessive juvenile parkinsonism (AR-JP) (Kitada et al. 1998). By now hundreds of PARKIN mutations including single amino acid changes and deletions/duplications have been identified and account for more than 50% of cases with familial recessive Parkinson’s disease (PD) (Corti et al. 2011). In addition to their causative role in PD, mutations in PARKIN have also been found in numerous cancer tissues and a tumor suppressive role has been described for the protein (Xu et al. 2014). PARKINis located on chromosome 6 and is one of the largest genes in the human genome spanning...
KeywordsParkin Mutation Mitochondrial Quality Control Parkin Function Flexible Linker Region Lysine Linkage
- Caulfield TR, Fiesel FC, Moussaud-Lamodiere EL, Dourado DF, Flores SC, Springer W. Phosphorylation by PINK1 releases the UBL domain and initializes the conformational opening of the E3 ubiquitin ligase Parkin. PLoS Comput Biol. 2014;10:e1003935. doi:10.1371/journal.pcbi.1003935.CrossRefPubMedPubMedCentralGoogle Scholar
- Roberts RF, Tang MY, Fon EA, Durcan TM. Defending the mitochondria: the pathways of mitophagy and mitochondrial-derived vesicles. Int J Biochem Cell Biol. 2016; doi:10.1016/j.biocel.2016.07.020.Google Scholar