Article
Overexpression of human wildtype torsinA and human DeltaGAG torsinA in a transgenic mouse model causes phenotypic abnormalities.
Neurobiology of disease - 1 Aug 2007
Grundmann K, Reischmann B, Vanhoutte G, Hübener J, Teismann P, Hauser T-K, Bonin M, Wilbertz J, Horn S, Nguyen H P, Kuhn M, Chanarat S, Wolburg H, Van der Linden A, Riess O
Abstract excerpt
Primary torsion dystonia is an autosomal-dominant inherited movement disorder. Most cases are caused by an in-frame deletion (GAG) of the DYT1 gene encoding torsinA. Reduced penetrance and phenotypic variability suggest that alteration of torsinA amino acid sequence is necessary but not sufficient for development of clinical symptoms and that additional factors must contribute to the factual manifestation of the...
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