Article
Sensorimotor tests unmask a phenotype in the DYT1 knock-in mouse model of dystonia.
Behavioural brain research - 15 Jan 2017
Richter Franziska, Gerstenberger Julia, Bauer Anne, Liang Chun-Chi, Richter Angelika
Abstract excerpt
Hereditary generalized dystonia is often caused by a GAG deletion in TOR1A (DYT1) that encodes for the protein torsinA. Although mutation carriers show alterations in neuronal connectivity and sensorimotor deficits, only 30% develop dystonia. Uncovering the factors triggering the dystonic symptoms and underlying pathophysiology would greatly benefit the development of more effective therapies. In DYT1 knock-in...
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