Article
Mutant torsinA interacts with tyrosine hydroxylase in cultured cells.
Neuroscience - 15 Dec 2009
O'Farrell C A, Martin K L, Hutton M, Delatycki M B, Cookson M R, Lockhart P J
Abstract excerpt
A specific mutation (DeltaE302/303) in the torsinA gene underlies most cases of dominantly inherited early-onset torsion dystonia. This mutation causes the protein to aggregate and form intracellular inclusion bodies in cultured cells and animal models. Co-expression of the wildtype and mutant proteins resulted in the redistribution of the wildtype protein from the endoplasmic reticulum to inclusion bodies in...
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