Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 5 of 5 for “"TorsinA"”.
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An Investigation of TorsinA Interaction Partners
TorsinA is a AAA+ (ATPases associated with a variety of cellular activities) protein that is implicated in the neuromuscular disorder DYT-TOR1A early-onset isolated dystonia. DYT-TOR1A is a heritable form of dystonia characterized by involuntary twisting movements and postures that arise during …
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TorsinA and the Pathophysiology of DYT1 Dystonia
… work was to examine the systems biology of torsinA, a DYT1 dystonia-associated protein, by using rodent model systems. TorsinA is a putative ATPase associated with a variety of cellular activities (AAA+). Deletion of glutamic acid residue 302/303 in <em>TOR1A</em> is causally associated with …
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Modeling disease-related proteins in Saccharomyces cerevisiae : insights into alpha-synuclein and TorsinA biology
… results. I also describe an attempt to model torsinA pathobiology in yeast. Mutations in torsinA cause early onset torsion dystonia, a devastating motor disorder. This protein has been described to function in regulating endoplasmic reticulum (ER) stress through the unfolded protein response …
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Generation and Analysis of Gene-Targeted Mouse Models for Oppenheim's Early-Onset Dyt1 Dystonia
… deletion of GAG in the DYT1 gene that encodes torsinA protein is implicated in the neurological movement disorder of Oppenheim's early-onset dystonia. The function of torsinA and the role of the mutation in causing dystonia are unknown. To gain insight into these unknowns, we made two …
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The molecular basis of LINC complex formation
… are regulated also arise from the structure. TorsinA is an AAA+ ATPase suggested to play a role in LINC complex regulation. Analysis of Torsin's binding partners LAP1 and LULL1 show that they are catalytically inactive AAA+ ATPases. We characterize the complex and show by EM that they form …