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Article

Mutations in PTEN-induced putative kinase 1 associated with recessive parkinsonism have differential effects on protein stability

11 Apr 2005

Abstract excerpt

Several mutations in PTEN-induced putative kinase 1 (PINK1) gene have been reported to be associated with recessive parkinsonism. The encoded protein is predicted to be a Ser/Thr protein kinase targeted to mitochondria. In this study, we have investigated the effects of mutations on PINK1 kinase activity in vitro and on expression levels and localization in mammalian cells. We chose to examine two point...

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PMID: 15824318
DOI: 10.1073/pnas.0500617102

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