Dystonia-specific mutations in THAP1 alter transcription of genes associated with neurodevelopment and myelin
Aloysius Domingo, Rachita Yadav, Shivangi Shah, William T. J. Hendriks, Serkan Erdin, Dadi Gao, Kathryn O’Keefe, Benjamin Currall, James F. Gusella, Nutan Sharma, Laurie J. Ozelius, Michelle E. Ehrlich, Michael E. Talkowski, D. Cristopher Bragg
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.
The American Journal of Human Genetics · Oct 21, 2021Peer-reviewedGenetics