Abstract:An in-frame deletion of a single glutamic acid codon in the TOR1A gene causes the neurological disorder DYT1 dystonia, but the cellular pathophysiology of this disorder remains elusive. A current model postulates that the wild-type (WT) torsinA protein is mainly localized to the endoplasmic reticulum (ER), but that the mutant form (ΔE-torsinA) is diverted to the nuclear envelope and cytoplasmic inclusion bodies. This mis-localization has been observed by overexpressing the proteins in neuronal and non-neuronal… Show more
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