Article
Subcellular distribution of THAP1 and alterations in the microstructure of brain white matter in DYT6 dystonia.
Parkinsonism & related disorders - 1 Sept 2012
Cheng Fu Bo, Wan Xin Hua, Feng Jia Chun, Ma Ling Yan, Hou Bo, Feng Feng, Wang Lin, Yang Ying Mai
Abstract excerpt
BACKGROUND: Mutations in the THAP1 gene have recently been identified as the cause of DYT6 primary dystonia. However, the changes in THAP1 gene function and in the microstructure of brain white matter have not been well-characterized. METHODS: Four different mutations of THAP1 expression (clones F22fs71X, C54F, F25fs53X, and L180S) were transfected into HEK-293T cells. The subcellular distribution of THAP1 in...
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