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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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Detalhes bibliográficos
Main Authors: Lin, Chin-Hsien, Chen, Meng-Ling, Chen, Grace Shiahuy, Tai, Chun-Hwei, Wu, Ruey-Meei
Formato: Artigo
Idioma:Inglês
Publicado em: Springer-Verlag 2011
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Acesso em linha: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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