Ellen B. Penney

This study introduces a humanized mouse model of XDP with SVA_F insertion in TAF1, revealing myelin loss and oligodendrocyte dysfunction as key pathogenic features.

This study identifies MSH3 as a genetic modifier of CCCTCT repeat instability in XDP, showing its impact on both expansion and contraction in blood and brain tissues.

The paper analyzes somatic instability of the CCCTCT repeat in XDP and finds repeat length-dependent expansion in brain regions, with regional patterns and similarities to HTT CAG repeat instability.

This study identifies the causal mechanism of X-linked Dystonia-Parkinsonism (XDP) by integrating genome and transcriptome assembly, revealing a SVA insertion causing intron retention and TAF1 dysfunction.