A novel conditional knock-in approach defines molecular and circuit effects of the DYT1 dystonia mutation.

Abstract excerpt

DYT1 dystonia, the most common inherited form of primary dystonia, is a neurodevelopmental disease caused by a dominant mutation in TOR1A. This mutation ('ΔE') removes a single glutamic acid from the encoded protein, torsinA. The effects of this mutation, at the molecular and circuit levels, and the reasons for its neurodevelopmental onset, remain incompletely understood. To uniquely address key questions of...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Diffusion Tensor Imaging
• Share to Disease Models, Animal
• Share to Dystonia Musculorum Deformans