NeuroscienceHuman Molecular GeneticsPeer-reviewed
A pathogenic DYT-THAP1 dystonia mutation causes hypomyelination and loss of YY1 binding
Dhananjay Yellajoshyula, Abigail E. Rogers, Audrey J. Kim…·William T. Dauer
This study shows that the DYT-THAP1 mutation F81L impairs THAP1 transcriptional activity and disrupts CNS myelination by reducing YY1 DNA binding.
16 citations