Article
Cholinergic dysregulation produced by selective inactivation of the dystonia-associated protein torsinA.
Neurobiology of disease - 1 Sept 2012
Sciamanna Giuseppe, Hollis Robert, Ball Chelsea, Martella Giuseppina, Tassone Annalisa, Marshall Andrea, Parsons Dee, Li Xinru, Yokoi Fumiaki, Zhang Lin, Li Yuqing, Pisani Antonio, Standaert David G
Abstract excerpt
DYT1 dystonia, a common and severe primary dystonia, is caused by a 3-bp deletion in TOR1A which encodes torsinA, a protein found in the endoplasmic reticulum. Several cellular functions are altered by the mutant protein, but at a systems level the link between these and the symptoms of the disease is unclear. The most effective known therapy for DYT1 dystonia is the use of anticholinergic drugs. Previous studies...
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