GeneticsThe American Journal of Human GeneticsPeer-reviewed
Dystonia-specific mutations in THAP1 alter transcription of genes associated with neurodevelopment and myelin
Aloysius Domingo, Rachita Yadav, Shivangi Shah…·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.