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Mutations in PTEN-induced putative kinase 1 (PINK1) gene have been linked to an autosomal recessive form of familial Parkinson's disease. PINK1 encodes a predicted mitochondrial protein kinase. Although the mitochondrial localization of PINK1 has been suggested, the exact subcellular compartment in which PINK1 exerts its cytoprotective function is elusive. Thus, we studied the subcellular distribution...
Mutations in the DJ-1 gene are associated with recessive, early onset Parkinson's disease (PD). We reported previously that one of the point mutations, L166P, destabilizes the protein and thus produces an effective knockout of the gene. Here, we have expanded this analysis to include a series of mutations and polymorphisms identified throughout the gene. The M26I point mutation was also unstable,...
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