Article
In vivo evidence of pathogenicity of VPS35 mutations in the Drosophila.
Molecular brain - 8 Oct 2014
Wang Hua-shan, Toh Joanne, Ho Patrick, Tio Murni, Zhao Yi, Tan Eng-King
Abstract excerpt
Mutations of VPS35, a component of the retromer complex have been associated with late onset familial Parkinson's disease. The D620N mutation in VPS35 appears to be most prevalent, however, P316S was found in two cases within the same family and a control, whereas L774M was identified in 6 cases and 1 control. In vivo evidence of their pathogenicity is lacking. Here we investigated the in vivo effects of P316S,...
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