SAK3 confers neuroprotection in the neurodegeneration model of X-linked Dystonia-Parkinsonism
Shivani Aryal,
Shawei Chen,
Kyle F Burbach
et al.
Abstract:Background
X-linked Dystonia-Parkinsonism(XDP) is an adult-onset neurodegenerative disorder that results in the loss of striatal medium spiny neurons (MSNs). XDP is associated with disease-specific mutations in and around the TAF1 gene. This study highlights the utility of directly reprogrammed MSNs from fibroblasts of affected XDP individuals as a platform that captures cellular and epigenetic phenotypes associated with XDP-related neurodegeneration. In addition, the current study demonstrates the neuroprotec… Show more
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