Effects of DJ-1 mutations and polymorphisms on protein stability and subcellular localization

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 o...

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Veröffentlicht in:	Brain research. Molecular brain research. 2005-03, Vol.134 (1), p.76-83
Hauptverfasser:	Blackinton, Jeff, Ahmad, Rili, Miller, David W., van der Brug, Marcel P., Canet-Avilés, Rosa M., Hague, Stephen M., Kaleem, Mona, Cookson, Mark R.
Format:	Artikel
Sprache:	eng
Schlagworte:	Acetylcysteine - analogs & derivatives Acetylcysteine - pharmacology Ammonium Chloride - pharmacology Analysis of Variance Animals Blotting, Western - methods Cell Line, Tumor Cycloheximide - pharmacology Cysteine Proteinase Inhibitors - pharmacology Dimerization Fluorescent Antibody Technique - methods Gene Expression Regulation - drug effects Gene Expression Regulation - physiology Green Fluorescent Proteins - metabolism Humans Immunoprecipitation - methods Intracellular Signaling Peptides and Proteins Mice Mitochondria Models, Molecular Neuroblastoma Oncogene Proteins - chemistry Oncogene Proteins - genetics Oxidative stress Parkinson's disease Point Mutation Polymorphism, Genetic Proteasome Protein Deglycase DJ-1 Protein Synthesis Inhibitors - pharmacology Reverse Transcriptase Polymerase Chain Reaction - methods RNA, Messenger - metabolism Subcellular Fractions - metabolism Time Factors Transfection - methods
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