Article
S18Y in ubiquitin carboxy-terminal hydrolase L1 (UCH-L1) associated with decreased risk of Parkinson's disease in Sweden.
Parkinsonism & related disorders - 1 Jul 2007
Carmine Belin Andrea, Westerlund Marie, Bergman Olle, Nissbrandt Hans, Lind Charlotta, Sydow Olof, Galter Dagmar
Abstract excerpt
Ubiquitin carboxy-terminal hydrolase L1 (UCH-L1) is a neuron-specific enzyme that removes ubiquitin from the C-terminal end of substrates and a component of the ubiquitin-proteasome system. A protective effect of a UCH-L1 variant, S18Y, was suggested since the common variant was found to be inversely associated with sporadic Parkinson's disease (PD). We investigated the association of S18Y in our Swedish PD...
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