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Novel variant Pro143Ala in HTRA2 contributes to Parkinson’s disease by inducing hyperphosphorylation of HTRA2 protein in mitochondria

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 variant...

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Main Authors: Lin, Chin-Hsien, Chen, Meng-Ling, Chen, Grace Shiahuy, Tai, Chun-Hwei, Wu, Ruey-Meei
格式: Artigo
語言:Inglês
出版: Springer-Verlag 2011
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC3214265/
https://ncbi.nlm.nih.gov/pubmed/21701785
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00439-011-1041-6
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