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Early-onset torsion dystonia is the most severe heritable form of dystonia, a human movement disorder that typically starts during a developmental window in early adolescence. Deletion in the DYT1 gene, encoding the torsinA protein, is responsible for this dominantly inherited...

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March 21, Other Views. We hypothesize that torsinA normally acts as a pre-emptive regulator of the intracellular stress response in the ER and that deficits in torsinA activity in patients lead to a state of selective vulnerability, that along with other factors, manifest as dystonia. Prior genetic analyses of DYT1 dystonia patients have discerned that disease penetrance is correlated with a specific polymorphism, DH, in the coding sequence of torsinA Using a suite of transgenic nematode strains in conjunction with a quantitative in vivo fluorescent readout for the ER stress response, as well as correlative studies using mammalian fibroblasts that are either torsinA WT or null, we report that WT torsinA supports intracellular homeostasis and attenuates the consequences of protein misfolding stress. I am romantic, and i prefer places with a sophisticated atmosphere and love pleasant conversations with interesting and well educated people. I am very discreet and have that particular touch of class

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