Article
A molecular explanation for the recessive nature of parkin-linked Parkinson's disease.
Nature communications - 1 Jan 2013
Spratt Donald E, Martinez-Torres R Julio, Noh Yeong J, Mercier Pascal, Manczyk Noah, Barber Kathryn R, Aguirre Jacob D, Burchell Lynn, Purkiss Andrew, Walden Helen, Shaw Gary S
Abstract excerpt
Mutations in the park2 gene, encoding the RING-inBetweenRING-RING E3 ubiquitin ligase parkin, cause 50% of autosomal recessive juvenile Parkinsonism cases. More than 70 known pathogenic mutations occur throughout parkin, many of which cluster in the inhibitory amino-terminal ubiquitin-like domain...
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