A pathogenic DYT-THAP1 dystonia mutation causes hypomyelination and loss of YY1 binding
Dhananjay Yellajoshyula, Abigail E. Rogers, Audrey J. Kim, Sumin Kim, Samuel S. Pappas, 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.
Human Molecular Genetics · Oct 20, 2021Peer-reviewedNeuroscience