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

• Alleles
• Animals
• Diffusion Tensor Imaging
• Disease Models, Animal
• Dystonia Musculorum Deformans
• Female
• Gene Knock-In Techniques
• Genotype
• Male
• Mice
• Mice, Transgenic
• Molecular Chaperones
• Mutation
• Neurons