Lack of a preclinical model of primary dystonia that exhibits dystonic-like twisting movements has stymied identification of the cellular and molecular underpinnings of the disease. The classical familial form of primary dystonia is caused by the DYT1 (ΔE) mutation in
Chun-Chi Liang, Lauren M. Tanabe, Stephanie Jou, Frank Chi, William T. Dauer
Title and authors | Publication | Year |
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TorsinA dysfunction causes persistent neuronal nuclear pore defects
SS Pappas, CC Liang, S Kim, CA Rivera, WT Dauer |
Human Molecular Genetics | 2017 |
A role for cerebellum in the hereditary dystonia DYT1
R Fremont, A Tewari, C Angueyra, K Khodakhah |
eLife | 2017 |
The DYT6 Dystonia Protein THAP1 Regulates Myelination within the Oligodendrocyte Lineage
D Yellajoshyula, CC Liang, SS Pappas, S Penati, A Yang, R Mecano, R Kumaran, S Jou, MR Cookson, WT Dauer |
Developmental Cell | 2017 |
TorsinA controls TAN line assembly and the retrograde flow of dorsal perinuclear actin cables during rearward nuclear movement
CA Saunders, NJ Harris, PT Willey, BM Woolums, Y Wang, AJ McQuown, A Schoenhofen, HJ Worman, WT Dauer, GG Gundersen, GW Luxton |
The Journal of Cell Biology | 2017 |
Genetic silencing of olivocerebellar synapses causes dystonia-like behaviour in mice
JJ White, RV Sillitoe |
Nature Communications | 2017 |
Torsin ATPases: Harnessing Dynamic Instability for Function
AR Chase, E Laudermilch, C Schlieker |
Frontiers in Molecular Biosciences | 2017 |
Forebrain knock-out of torsinA reduces striatal free-water and impairs whole-brain functional connectivity in a symptomatic mouse model of DYT1 dystonia
JC DeSimone, SS Pappas, M Febo, RG Burciu, P Shukla, LM Colon-Perez, WT Dauer, DE Vaillancourt |
Neurobiology of Disease | 2017 |
Early-onset torsion dystonia: a novel high-throughput yeast genetic screen for factors modifying protein levels of torsinAΔE
LF Zacchi, JC Dittmar, MJ Mihalevic, AM Shewan, BL Schulz, JL Brodsky, KA Bernstein |
Disease models & mechanisms | 2017 |
A Role for Dystonia-Associated Genes in Spinal GABAergic Interneuron Circuitry
J Zhang, JA Weinrich, JB Russ, JD Comer, PK Bommareddy, RJ DiCasoli, CV Wright, Y Li, PJ van Roessel, JA Kaltschmidt |
Cell Reports | 2017 |
Biallelic TOR1A variants in an infant with severe arthrogryposis
SC Reichert, P Gonzalez-Alegre, GH Scharer |
Neurology Genetics | 2017 |
The Anatomical Basis for Dystonia: The Motor Network Model
H A Jinnah, Vladimir Neychev, Ellen J Hess |
Tremor and other hyperkinetic movements (New York, N.Y.) | 2017 |
Heterozygous Gnal Mice Are a Novel Animal Model with Which to Study Dystonia Pathophysiology
A Pelosi, F Menardy, D Popa, JA Girault, D Hervé |
The Journal of neuroscience : the official journal of the Society for Neuroscience | 2017 |