D. Cristopher Bragg

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.

The paper genomically rewrote a mouse Taf1 allele with a human XDP patient-derived TAF1 allele, revealing that intronic SVA retrotransposons reduce TAF1 levels and cause neurodegeneration.

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.

This study shows that ZNF91 represses the XDP-SVA insertion and mitigates the molecular phenotype of XDP, with age-related ZNF91 expression decline contributing to disease progression.

This study characterizes TAF1 expression variation in XDP female carriers and human brain ontogeny, identifying age- and region-specific patterns that may explain neostriatum vulnerability in XDP.

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.

The paper investigates how dystonia-specific mutations in THAP1 affect gene transcription related to neurodevelopment and myelin in iPSC-derived neural cells and mouse models.

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.