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. 2016 Nov 2;140(1):98–117. doi: 10.1093/brain/aww261

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See Gandhi and Plun-Favreau (doi:10.1093/aww320) for a scientific commentary on this article.

Heterozygous mutations in recessive Parkinson’s disease genes have been postulated to increase disease risk. Puschmann et al. report a genetic association between heterozygous PINK1 p.G411S and Parkinson’s disease. They provide structural and functional explanations for a partial dominant-negative effect of the mutant protein, which impairs wild-type PINK1 activity through hetero-dimerization.