Article
A Drosophila model of early onset torsion dystonia suggests impairment in TGF-β signaling
21 Jul 2004
Abstract excerpt
To investigate the cellular and molecular etiology of early onset torsion dystonia, we have established a Drosophila model of this disorder. Expression of mutant human torsinA deleted for a single glutamic acid residue (DeltaE HtorA), but not normal HtorA, elicits locomotor defects in Drosophila. As in mammalian systems, DeltaE HtorA in flies forms protein accumulations that localize to synaptic membranes, nuclei...
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