Search Results - "Niland, Brian P."
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TorsinA binds the KASH domain of nesprins and participates in linkage between nuclear envelope and cytoskeleton
Published in Journal of cell science (15-10-2008)“…A specific mutation (ΔE) in torsinA underlies most cases of the dominantly inherited movement disorder, early-onset torsion dystonia (DYT1). TorsinA, a member…”
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Mutant torsinA interferes with protein processing through the secretory pathway in DYT1 dystonia cells
Published in Proceedings of the National Academy of Sciences - PNAS (24-04-2007)“…TorsinA is an AAA⁺ protein located predominantly in the lumen of the endoplasmic reticulum (ER) and nuclear envelope responsible for early onset torsion…”
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Dystonia-causing mutant torsinA inhibits cell adhesion and neurite extension through interference with cytoskeletal dynamics
Published in Neurobiology of disease (01-04-2006)“…Early onset torsion dystonia is a movement disorder inherited as an autosomal dominant syndrome with reduced penetrance. Symptoms appear to result from altered…”
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tTorsinA binds the KASH domain of nesprins and participates in linkage between nuclear envelope and cytoskeleton
Published in Journal of cell science (30-09-2008)“…A specific mutation (ΔE) in torsinA underlies most cases of the dominantly inherited movement disorder, early-onset torsion dystonia (DYT1). TorsinA, a member…”
Get full text
Journal Article