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Mutant torsinA interacts with Tyrosine Hydroxylase in cultured cells

A specific mutation (ΔE302/303) 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...

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Autori principali: O'Farrell, Casey A., Martin, Kirstee, Hutton, Michael, Delatycki, Martin B., Cookson, Mark R., Lockhart, Paul J.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2009
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2844889/
https://ncbi.nlm.nih.gov/pubmed/19761814
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.neuroscience.2009.09.017
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