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Items: 1 to 20 of 87

1.
Genetic determinants of micronucleus formation in vivo
D. J. Adams, B. Barlas, R. E. McIntyre, I. Salguero, L. van der Weyden, A. Barros, J. R. Vicente, N. Karimpour, A. Haider, M. Ranzani, G. Turner, N. A. Thompson, V. Harle, R. Olvera-León, C. D. Robles-Espinoza, A. O. Speak, N. Geisler, W. J. Weninger, S. H. Geyer, J. Hewinson, N. A. Karp, The Sanger Mouse Genetics Project, B. Fu, F. Yang, Z. Kozik, J. Choudhary, L. Yu, M. S. van Ruiten, B. D. Rowland, C. J. Lelliott, M. del Castillo Velasco-Herrera, R. Verstraten, L. Bruckner, A. G. Henssen, M. A. Rooimans, J. de Lange, T. J. Mohun, M. J. Arends, K. A. Kentistou, P. A. Coelho, Y. Zhao, H. Zecchini, J. R. B. Perry, S. P. Jackson, G. Balmus
Nature. 2024; 627(8002): 130–136. Published online 2024 Feb 14. doi: 10.1038/s41586-023-07009-0
PMCID:
PMC10917660
ArticlePDF–4.8M
2.
Motor deficit and lack of overt dystonia in Dlx conditional Dyt1 knockout mice
David Berryman, Jake Barrett, Canna Liu, Christian Maugee, Julien Waldbaum, Daiyao Yi, Hong Xing, Fumiaki Yokoi, Shreya Saxena, Yuqing Li
Behav Brain Res. Author manuscript; available in PMC 2024 Feb 15.
Published in final edited form as: Behav Brain Res. 2023 Feb 15; 439: 114221. Published online 2022 Nov 20. doi: 10.1016/j.bbr.2022.114221
PMCID:
PMC10364669
ArticlePDF–875K
3.
A dystonia mouse model with motor and sequencing deficits paralleling human disease
Krista Kernodle, Allison M. Bakerian, Allison Cropsey, William T. Dauer, Daniel K. Leventhal
Behav Brain Res. Author manuscript; available in PMC 2023 May 24.
Published in final edited form as: Behav Brain Res. 2022 May 24; 426: 113844. Published online 2022 Mar 15. doi: 10.1016/j.bbr.2022.113844
PMCID:
PMC9234686
ArticlePDF–1.6M
4.
Inhibition of endoplasmic reticulum stress reverses synaptic plasticity deficits in striatum of DYT1 dystonia mice
Huaying Cai, Linhui Ni, Xingyue Hu, Xianjun Ding
Aging (Albany NY) 2021 Aug 31; 13(16): 20319–20334. Published online 2021 Aug 16. doi: 10.18632/aging.203413
PMCID:
PMC8436893
ArticlePDF–2.2M
5.
TorsinA restoration in a mouse model identifies a critical therapeutic window for DYT1 dystonia
Jay Li, Daniel S. Levin, Audrey J. Kim, Samuel S. Pappas, William T. Dauer
J Clin Invest. 2021 Mar 15; 131(6): e139606. Published online 2021 Mar 15. doi: 10.1172/JCI139606
PMCID:
PMC7954593
ArticlePDF–7.1M
6.
Decreased number of striatal cholinergic interneurons and motor deficits in dopamine receptor 2-expressing-cell-specific Dyt1 conditional knockout mice
Fumiaki Yokoi, Janneth Oleas, Hong Xing, Yuning Liu, Kelly M. Dexter, Carly Misztal, Melinda Gerard, Iakov Efimenko, Patrick Lynch, Matthew Villanueva, Raul Alsina, Shiv Krishnaswamy, David E. Vaillancourt, Yuqing Li
Neurobiol Dis. Author manuscript; available in PMC 2021 Feb 1.
Published in final edited form as: Neurobiol Dis. 2020 Feb; 134: 104638. Published online 2019 Oct 13. doi: 10.1016/j.nbd.2019.104638
PMCID:
PMC7323754
ArticlePDF–2.3M
7.
Improved survival and overt “dystonic” symptoms in a torsinA hypofunction mouse model
Fumiaki Yokoi, Fangfang Jiang, Kelly Dexter, Bryan Salvato, Yuqing Li
Behav Brain Res. Author manuscript; available in PMC 2021 Mar 2.
Published in final edited form as: Behav Brain Res. 2020 Mar 2; 381: 112451. Published online 2019 Dec 28. doi: 10.1016/j.bbr.2019.112451
PMCID:
PMC7140139
ArticlePDF–1.8M
8.
Subtle changes in striatal muscarinic M1 and M4 receptor expression in the DYT1 knock-in mouse model of dystonia
Franziska Richter, Laura Klein, Christin Helmschrodt, Angelika Richter
PLoS One. 2019; 14(12): e0226080. Published online 2019 Dec 5. doi: 10.1371/journal.pone.0226080
PMCID:
PMC6894858
ArticlePDF–2.1M
9.
Impaired Motor Learning in Mice Expressing TorsinA with the DYT1 Dystonia Mutation
Nutan Sharma, Mark G. Baxter, Jeremy Petravicz, D. Cristopher Bragg, Alonna Schienda, David G. Standaert, Xandra O. Breakefield
J Neurosci. 2005 Jun 1; 25(22): 5351–5355. doi: 10.1523/JNEUROSCI.0855-05.2005
PMCID:
PMC6725000
ArticlePDF–208K
10.
Structure of the Golgi apparatus is not influenced by a GAG deletion mutation in the dystonia-associated gene Tor1a
Sara B. Mitchell, Sadahiro Iwabuchi, Hiroyuki Kawano, Tsun Ming Tom Yuen, Jin-Young Koh, K. W. David Ho, N. Charles Harata
PLoS One. 2018; 13(11): e0206123. Published online 2018 Nov 7. doi: 10.1371/journal.pone.0206123
PMCID:
PMC6221310
ArticlePDF–6.1M
11.
TorsinA dysfunction causes persistent neuronal nuclear pore defects
Samuel S Pappas, Chun-Chi Liang, Sumin Kim, CheyAnne O Rivera, William T Dauer
Hum Mol Genet. 2018 Feb 1; 27(3): 407–420. Published online 2017 Nov 24. doi: 10.1093/hmg/ddx405
PMCID:
PMC5886148
ArticlePDF–1.9M
12.
Early structural and functional plasticity alterations in a susceptibility period of DYT1 dystonia mouse striatum
Marta Maltese, Jennifer Stanic, Annalisa Tassone, Giuseppe Sciamanna, Giulia Ponterio, Valentina Vanni, Giuseppina Martella, Paola Imbriani, Paola Bonsi, Nicola Biagio Mercuri, Fabrizio Gardoni, Antonio Pisani
eLife. 2018; 7: e33331. Published online 2018 Mar 5. doi: 10.7554/eLife.33331
PMCID:
PMC5849413
ArticlePDF–3.6M
13.
Strength of cholinergic tone dictates the polarity of dopamine D2 receptor modulation of striatal cholinergic interneuron excitability in DYT1 dystonia
Mariangela Scarduzio, Chelsea N. Zimmerman, Karen L. Jaunarajs, Qin Wang, David G. Standaert, Lori L. McMahon
Exp Neurol. Author manuscript; available in PMC 2018 Sep 1.
Published in final edited form as: Exp Neurol. 2017 Sep; 295: 162–175. Published online 2017 Jun 3. doi: 10.1016/j.expneurol.2017.06.005
PMCID:
PMC5561742
ArticlePDF–2.4M
14.
Forebrain knock-out of torsinA reduces striatal free-water and impairs whole-brain functional connectivity in a symptomatic mouse model of DYT1 dystonia
Jesse C. DeSimone, Samuel S. Pappas, Marcelo Febo, Roxana G. Burciu, Priyank Shukla, Luis M. Colon-Perez, William T. Dauer, David E. Vaillancourt
Neurobiol Dis. Author manuscript; available in PMC 2018 Oct 1.
Published in final edited form as: Neurobiol Dis. 2017 Oct; 106: 124–132. Published online 2017 Jul 1. doi: 10.1016/j.nbd.2017.06.015
PMCID:
PMC5555738
ArticlePDF–1.8M
15.
TorsinA controls TAN line assembly and the retrograde flow of dorsal perinuclear actin cables during rearward nuclear movement
Cosmo A. Saunders, Nathan J. Harris, Patrick T. Willey, Brian M. Woolums, Yuexia Wang, Alex J. McQuown, Amy Schoenhofen, Howard J. Worman, William T. Dauer, Gregg G. Gundersen, G.W. Gant Luxton
J Cell Biol. 2017 Mar 6; 216(3): 657–674. doi: 10.1083/jcb.201507113
PMCID:
PMC5350507
ArticlePDF–3.3M
16.
A role for cerebellum in the hereditary dystonia DYT1
Rachel Fremont, Ambika Tewari, Chantal Angueyra, Kamran Khodakhah
eLife. 2017; 6: e22775. Published online 2017 Feb 15. doi: 10.7554/eLife.22775
PMCID:
PMC5340526
ArticlePDF–2.6M
17.
Tor1a+/- mice develop dystonia-like movements via a striatal dopaminergic dysregulation triggered by peripheral nerve injury
Chi Wang Ip, Ioannis U. Isaias, Burak B. Kusche-Tekin, Dennis Klein, Janos Groh, Aet O’Leary, Susanne Knorr, Takahiro Higuchi, James B. Koprich, Jonathan M. Brotchie, Klaus V. Toyka, Andreas Reif, Jens Volkmann
Acta Neuropathol Commun. 2016; 4: 108. Published online 2016 Oct 3. doi: 10.1186/s40478-016-0375-7
PMCID:
PMC5048687
ArticlePDF–1.8M
18.
In vivo imaging reveals impaired connectivity across cortical and subcortical networks in a mouse model of DYT1 dystonia
Jesse C. DeSimone, Marcelo Febo, Priyank Shukla, Edward Ofori, Luis M. Colon-Perez, Yuqing Li, David E. Vaillancourt
Neurobiol Dis. Author manuscript; available in PMC 2017 Nov 1.
Published in final edited form as: Neurobiol Dis. 2016 Nov; 95: 35–45. Published online 2016 Jul 9. doi: 10.1016/j.nbd.2016.07.005
PMCID:
PMC5010949
ArticlePDF–1.1M
19.
Forebrain deletion of the dystonia protein torsinA causes dystonic-like movements and loss of striatal cholinergic neurons
Samuel S Pappas, Katherine Darr, Sandra M Holley, Carlos Cepeda, Omar S Mabrouk, Jenny-Marie T Wong, Tessa M LeWitt, Reema Paudel, Henry Houlden, Robert T Kennedy, Michael S Levine, William T Dauer
eLife. 2015; 4: e08352. Published online 2015 Jun 8. doi: 10.7554/eLife.08352
PMCID:
PMC4473728
ArticlePDF–4.7M
20.
Dopamine Receptor and Gα(olf) Expression in DYT1 Dystonia Mouse Models during Postnatal Development
Lin Zhang, Deirdre M. McCarthy, Nutan Sharma, Pradeep G. Bhide
PLoS One. 2015; 10(4): e0123104. Published online 2015 Apr 10. doi: 10.1371/journal.pone.0123104
PMCID:
PMC4393110
ArticlePDF–849K

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