Disease Modeling with Human Neurons Reveals LMNB1 Dysregulation Underlying DYT1 Dystonia

Abstract excerpt

DYT1 dystonia is a hereditary neurologic movement disorder characterized by uncontrollable muscle contractions. It is caused by a heterozygous mutation in Torsin A ( TOR1A ), a gene encoding a membrane-embedded ATPase. While animal models provide insights into disease mechanisms, significant species-dependent differences exist since animals with the identical heterozygous mutation fail to show pathology. Here, we...