Article
L166P mutant DJ-1, causative for recessive Parkinson's disease, is degraded through the ubiquitin-proteasome system.
The Journal of biological chemistry - 19 Sept 2003
Miller David W, Ahmad Rili, Hague Stephen, Baptista Melisa J, Canet-Aviles Rosa, McLendon Chris, Carter Donald M, Zhu Peng-Peng, Stadler Julia, Chandran Jayanth, Klinefelter Gary R, Blackstone Craig, Cookson Mark R
Abstract excerpt
Mutations in a gene on chromosome 1, DJ-1, have been reported recently to be associated with recessive, earlyonset Parkinson's disease. While one mutation is a large deletion that is predicted to produce an effective knockout of the gene, the second is a point mutation, L166P, whose precise effects on protein function are unclear. In the present study, we show that L166P destabilizes DJ-1 protein and promotes its...
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