Article
Novel variant Pro143Ala in HTRA2 contributes to Parkinson's disease by inducing hyperphosphorylation of HTRA2 protein in mitochondria.
Human genetics - 1 Dec 2011
Lin Chin-Hsien, Chen Meng-Ling, Chen Grace Shiahuy, Tai Chun-Hwei, Wu Ruey-Meei
Abstract excerpt
Mutations in the gene encoding the mitochondrial protein high temperature requirement A2 (HTRA2) are inconsistently associated with a risk of Parkinson's disease (PD). We assessed the presence of HTRA2 mutations among patients with PD and performed functional assay of identified mutations or variants. Among the total 1,373 subjects, the entire HTRA2 coding region was sequenced in 113 early-onset PD (EOPD), 20...
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