DYT1 dystonia is an autosomal dominant movement disorder, characterized by early onset of involuntary sustained muscle contractions. It is caused by a 3-bp deletion in the DYT1 gene, which results in the deletion of a single glutamate residue in the C-terminus of the protein TA (torsinA). TA is a member of the AAA+ (ATPase associated with various cellular activities) family of chaperones with multiple functions in the cell. There is no evidence of neurodegeneration in DYT1 dystonia, which suggests that mutant TA leads to functional neuronal abnormalities, leading to dystonic movements. In recent years, different functional roles have been attributed to TA, including being a component of the cytoskeleton and the NE (nuclear envelope), and involvement in the secretory pathway and SV (synaptic vesicle) machinery. The aim of the present review is to summarize these findings and the different models proposed, which have contributed to our current understanding of the function of TA, and also to discuss the evidence implicating TA in SV function.
Conference Article| March 22 2010
TorsinA and DYT1 dystonia: a synaptopathy?
Thomas T. Warner;
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Thomas T. Warner, Alassandra Granata, Giampietro Schiavo; TorsinA and DYT1 dystonia: a synaptopathy?. Biochem Soc Trans 1 April 2010; 38 (2): 452–456. doi: https://doi.org/10.1042/BST0380452
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