Effects of DJ-1 mutations and polymorphisms on protein stability and subcellular localization
J Blackinton, R Ahmad, DW Miller… - Molecular brain …, 2005 - Elsevier
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, although the effect was not as dramatic as with
L166P. Protein levels were rescued in part, but not completely, by proteasome inhibition …
(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, although the effect was not as dramatic as with
L166P. Protein levels were rescued in part, but not completely, by proteasome inhibition …
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