The Effects of Variants in the Parkin, PINK1, and DJ-1 Genes along with Evidence for their Pathogenicity

Author(s): David N. Hauser , Christopher T. Primiani , Mark R. Cookson* .

Journal Name: Current Protein & Peptide Science

Volume 18 , Issue 7 , 2017

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Abstract:

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 or not.

Keywords: Variants, parkin, PINK1, DJ-1, pathogenicity, phenotype.

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Article Details

VOLUME: 18
ISSUE: 7
Year: 2017
Page: [702 - 714]
Pages: 13
DOI: 10.2174/1389203717666160311121954
Price: $58

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