The Effects of Variants in the Parkin, PINK1, and DJ-1 Genes along with Evidence for their Pathogenicity.
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ABSTRACT:
SUBMITTER: Hauser DN
PROVIDER: S-EPMC5140758 | biostudies-literature | 2017
REPOSITORIES: biostudies-literature
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The Effects of Variants in the Parkin, PINK1, and DJ-1 Genes along with Evidence for their Pathogenicity.
Hauser David N DN Primiani Christopher T CT Cookson Mark R MR
Current protein & peptide science 20170101 7
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 ar ...[more]
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