Dystonia and the nuclear envelope.

Abstract excerpt

Mutations in torsinA cause dominantly inherited early-onset torsion dystonia in humans. In this issue of Neuron, Goodchild et al. show that torsinA knockout and knockin mice have similar phenotypes, which suggests that the mutant torsinA allele causes disease because it has decreased function. The experiments also highlight the possible role of nuclear envelope dynamics in maintaining normal neuronal function.

Topics

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

• Share to Brain
• Share to Cell Differentiation
• Share to Disease Models, Animal