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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Detalles Bibliográficos
Autores principales: Lin, Chin-Hsien, Chen, Meng-Ling, Chen, Grace Shiahuy, Tai, Chun-Hwei, Wu, Ruey-Meei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer-Verlag 2011
Materias:
Original Investigation
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3214265/
https://www.ncbi.nlm.nih.gov/pubmed/21701785
http://dx.doi.org/10.1007/s00439-011-1041-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3214265/
https://www.ncbi.nlm.nih.gov/pubmed/21701785
http://dx.doi.org/10.1007/s00439-011-1041-6

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