Article
Dystonia-specific mutations in THAP1 alter transcription of genes associated with neurodevelopment and myelin.
American journal of human genetics - 4 Nov 2021
Domingo Aloysius, Yadav Rachita, Shah Shivangi, Hendriks William T, Erdin Serkan, Gao Dadi, O'Keefe Kathryn, Currall Benjamin, Gusella James F, Sharma Nutan, Ozelius Laurie J, Ehrlich Michelle E, Talkowski Michael E, Bragg D Cristopher
Abstract excerpt
Dystonia is a neurologic disorder associated with an increasingly large number of genetic variants in many genes, resulting in characteristic disturbances in volitional movement. Dissecting the relationships between these mutations and their functional outcomes is critical in understanding the pathways that drive dystonia pathogenesis. Here we established a pipeline for characterizing an allelic series of...
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