Early onset Parkinson’s disease can be caused by variants in the PINK1, Parkin, and DJ-1
genes. Since their initial discoveries, hundreds of variants have been found in these genes that are associated
with a Parkinsonian phenotype. This review will briefly discuss the functions of the protein products
of the three genes, then focus on the effects that disease associated variants have on these functions. We
will also discuss how experimental findings can help decide whether individual variants are pathogenic
Keywords: Variants, parkin, PINK1, DJ-1, pathogenicity, phenotype.
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