Works matching DE "TORSIN A"
Results: 19
Diminishing evidence for torsinA-positive neuronal inclusions in DYT1 dystonia.
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- Acta Neuropathologica Communications, 2016, v. 4, p. 1, doi. 10.1186/s40478-016-0362-z
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- Article
Review: Genetics and neuropathology of primary pure dystonia.
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- Neuropathology & Applied Neurobiology, 2012, v. 38, n. 6, p. 520, doi. 10.1111/j.1365-2990.2012.01298.x
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- Article
The multiple faces of TOR1A: different inheritance, different phenotype.
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- 2017
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- Publication type:
- journal article
TOR1A variants cause a severe arthrogryposis with developmental delay, strabismus and tremor.
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- 2017
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- Publication type:
- journal article
Drosophila Torsin Protein Regulates Motor Control and Stress Sensitivity and Forms a Complex with Fragile-X Mental Retardation Protein.
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- Neural Plasticity, 2016, p. 1, doi. 10.1155/2016/6762086
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- Article
Human TorsinA can function in the yeast cytosol as a molecular chaperone.
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- Biochemical Journal, 2017, v. 474, n. 20, p. 3439, doi. 10.1042/BCJ20170395
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- Article
TorsinA regulates the LINC to moving nuclei.
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- Journal of Cell Biology, 2017, v. 216, n. 3, p. 543, doi. 10.1083/jcb.201701054
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- Article
TorsinA hypofunction causes abnormal twisting movements and sensorimotor circuit neurodegeneration.
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- Journal of Clinical Investigation, 2014, v. 124, n. 7, p. 3080, doi. 10.1172/JCI72830
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- Article
Twisting mice move the dystonia field forward.
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- Journal of Clinical Investigation, 2014, v. 124, n. 7, p. 2848, doi. 10.1172/JCI76624
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- Publication type:
- Article
Behavioral and Electrophysiological Characterization of Dyt1 Heterozygous Knockout Mice.
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- PLoS ONE, 2015, v. 10, n. 3, p. 1, doi. 10.1371/journal.pone.0120916
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- Publication type:
- Article
Torsin A Localization in the Mouse Cerebellar Synaptic Circuitry.
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- PLoS ONE, 2013, v. 8, n. 6, p. 1, doi. 10.1371/journal.pone.0068063
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- Publication type:
- Article
The Zebrafish Homologue of the Human DYT1 Dystonia Gene Is Widely Expressed in CNS Neurons but Non- Essential for Early Motor System Development.
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- PLoS ONE, 2012, v. 7, n. 9, p. 1, doi. 10.1371/journal.pone.0045175
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- Publication type:
- Article
TorsinA and the TorsinA-Interacting Protein Printor Have No Impact on Endoplasmic Reticulum Stress or Protein Trafficking in Yeast.
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- PLoS ONE, 2011, v. 6, n. 7, p. 1, doi. 10.1371/journal.pone.0022744
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- Article
A role for cerebellum in the hereditary dystonia DYT1.
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- eLife, 2017, p. 1, doi. 10.7554/eLife.22775
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- Publication type:
- Article
Structures of TorsinA and its disease-mutant complexed with an activator reveal the molecular basis for primary dystonia.
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- eLife, 2016, p. 1, doi. 10.7554/eLife.17983
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- Publication type:
- Article
Forebrain deletion of the dystonia protein torsinA causes dystonic-like movements and loss of striatal cholinergic neurons.
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- eLife, 2015, p. 1, doi. 10.7554/eLife.08352
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- Publication type:
- Article
Structure of the Golgi apparatus is not influenced by a GAG deletion mutation in the dystonia-associated gene Tor1a.
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- PLoS ONE, 2018, v. 13, n. 11, p. 1, doi. 10.1371/journal.pone.0206123
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- Article
Torsins: not your typical AAA+ ATPases.
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- Critical Reviews in Biochemistry & Molecular Biology, 2015, v. 50, n. 6, p. 532, doi. 10.3109/10409238.2015.1091804
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- Article
The pathogenic human Torsin A in Drosophila activates the unfolded protein response and increases susceptibility to oxidative stress.
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- BMC Genomics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12864-015-1518-0
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- Publication type:
- Article