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Items: 1 to 20 of 91

1.
TorsinA is essential for neuronal nuclear pore complex localization and maturation
Sumin Kim, Sébastien Phan, Hung Tri Tran, Thomas R. Shaw, Sarah H. Shahmoradian, Mark H. Ellisman, Sarah L. Veatch, Sami J. Barmada, Samuel S. Pappas, William T. Dauer
Nat Cell Biol. Author manuscript; available in PMC 2024 Nov 7.
Published in final edited form as: Nat Cell Biol. 2024 Sep; 26(9): 1482–1495. Published online 2024 Aug 8. doi: 10.1038/s41556-024-01480-1
PMCID:
PMC11542706
AbstractArticlePDF–6.0M
2.
Dynamic regulation of hepatic lipid metabolism by torsinA and its activators
Antonio Hernandez-Ono, Yi Peng Zhao, John W. Murray, Cecilia Östlund, Michael J. Lee, Angsi Shi, William T. Dauer, Howard J. Worman, Henry N. Ginsberg, Ji-Yeon Shin
JCI Insight. 2024 Feb 8; 9(3): e175328. Published online 2024 Feb 8. doi: 10.1172/jci.insight.175328
PMCID:
PMC10967386
AbstractArticlePDF–14M
3.
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
AbstractArticlePDF–4.8M
4.
Cell-specific Dyt1 ΔGAG knock-in to basal ganglia and cerebellum reveal differential effects on motor behavior and sensorimotor network function
B.J. Wilkes, R.Z. Adury, D. Berryman, L.R. Concepcion, Y. Liu, F. Yokoi, C. Maugee, Y. Li, D.E. Vaillancourt
Exp Neurol. Author manuscript; available in PMC 2024 Sep 1.
Published in final edited form as: Exp Neurol. 2023 Sep; 367: 114471. Published online 2023 Jun 14. doi: 10.1016/j.expneurol.2023.114471
PMCID:
PMC10695146
AbstractArticlePDF–1.7M
5.
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
AbstractArticlePDF–875K
6.
Genetic evidence of aberrant striatal synaptic maturation and secretory pathway alteration in a dystonia mouse model
Dhananjay Yellajoshyula, Sunday Opeyemi, William T. Dauer, Samuel S. Pappas
Dystonia. Author manuscript; available in PMC 2023 Mar 2.
Published in final edited form as: Dystonia. 2022; 1: 10892. Published online 2022 Dec 14. doi: 10.3389/dyst.2022.10892
PMCID:
PMC9980434
AbstractArticlePDF–1.0M
7.
Orthodenticle homeobox 2 is transported to lysosomes by nuclear budding vesicles
Jun Woo Park, Eun Jung Lee, Eunyoung Moon, Hong-Lim Kim, In-Beom Kim, Didier Hodzic, Namsuk Kim, Hee-Seok Kweon, Jin Woo Kim
Nat Commun. 2023; 14: 1111. Published online 2023 Feb 27. doi: 10.1038/s41467-023-36697-5
PMCID:
PMC9971051
AbstractArticlePDF–7.0M
8.
Alpha‐Synuclein is Involved in DYT1 Dystonia Striatal Synaptic Dysfunction
Giulia Ponterio, Gaia Faustini, Ilham El Atiallah, Giuseppe Sciamanna, Maria Meringolo, Annalisa Tassone, Paola Imbriani, Silvia Cerri, Giuseppina Martella, Paola Bonsi, Arianna Bellucci, Antonio Pisani
Mov Disord. 2022 May; 37(5): 949–961. Published online 2022 Apr 14. doi: 10.1002/mds.29024
PMCID:
PMC9323501
AbstractArticlePDF–14M
9.
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
AbstractArticlePDF–1.6M
10.
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
AbstractArticlePDF–2.2M
11.
Cell-intrinsic effects of TorsinA(ΔE) disrupt dopamine release in a mouse model of TOR1A dystonia
Anthony M. Downs, Xueliang Fan, Radhika F. Kadakia, Yuping Donsante, H.A. Jinnah, Ellen J. Hess
Neurobiol Dis. Author manuscript; available in PMC 2021 Oct 1.
Published in final edited form as: Neurobiol Dis. 2021 Jul; 155: 105369. Published online 2021 Apr 21. doi: 10.1016/j.nbd.2021.105369
PMCID:
PMC8327367
AbstractArticlePDF–1.9M
12.
Cell-specific effects of Dyt1 knock-out on sensory processing, network-level connectivity, and motor deficits
B.J. Wilkes, J.C. DeSimone, Y. Liu, W.T. Chu, S.A. Coombes, Y. Li, D. E. Vaillancourt
Exp Neurol. Author manuscript; available in PMC 2021 Sep 1.
Published in final edited form as: Exp Neurol. 2021 Sep; 343: 113783. Published online 2021 Jun 10. doi: 10.1016/j.expneurol.2021.113783
PMCID:
PMC8324325
AbstractArticlePDF–1.3M
13.
Characterization of the direct pathway in Dyt1 ΔGAG heterozygous knock-in mice and dopamine receptor 1-expressing-cell-specific Dyt1 conditional knockout mice
Fumiaki Yokoi, Huan-Xin Chen, Janneth Oleas, Mai Tu Dang, Hong Xing, Kelly M. Dexter, Yuqing Li
Behav Brain Res. Author manuscript; available in PMC 2022 Aug 6.
Published in final edited form as: Behav Brain Res. 2021 Aug 6; 411: 113381. Published online 2021 May 24. doi: 10.1016/j.bbr.2021.113381
PMCID:
PMC8323984
AbstractArticlePDF–2.0M
14.
Investigating the role of striatal dopamine receptor 2 in motor coordination and balance: insights into the pathogenesis of DYT1 dystonia
Yuning Liu, Hong Xing, Fumiaki Yokoi, David E. Vaillancourt, Yuqing Li
Behav Brain Res. Author manuscript; available in PMC 2022 Apr 9.
Published in final edited form as: Behav Brain Res. 2021 Apr 9; 403: 113137. Published online 2021 Jan 18. doi: 10.1016/j.bbr.2021.113137
PMCID:
PMC8165729
AbstractArticlePDF–866K
15.
Alteration of the cholinergic system and motor deficits in cholinergic neuron-specific Dyt1 knockout mice
Yuning Liu, Hong Xing, Wanhui Sheng, Kyle N Singh, Alexandra G. Korkmaz, Caroline Comeau, Maisha Anika, Alexis Ernst, Fumiaki Yokoi, David E. Vaillancourt, Charles J. Frazier, Yuqing Li
Neurobiol Dis. Author manuscript; available in PMC 2022 Jul 1.
Published in final edited form as: Neurobiol Dis. 2021 Jul; 154: 105342. Published online 2021 Mar 20. doi: 10.1016/j.nbd.2021.105342
PMCID:
PMC8113083
AbstractArticlePDF–1.8M
16.
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
AbstractArticlePDF–7.1M
17.
Pathophysiology of Dyt1-Tor1a dystonia in mice is mediated by spinal neural circuit dysfunction
Amanda M. Pocratsky, Filipe Nascimento, M. Görkem Özyurt, Ian J. White, Roisin Sullivan, Benjamin J. O’Callaghan, Calvin C. Smith, Sunaina Surana, Marco Beato, Robert M. Brownstone
Sci Transl Med. Author manuscript; available in PMC 2023 Jun 22.
Published in final edited form as: Sci Transl Med. 2023 May 3; 15(694): eadg3904. Published online 2023 May 3. doi: 10.1126/scitranslmed.adg3904
PMCID:
PMC7614689
AbstractArticlePDF–2.5M
18.
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
AbstractArticlePDF–2.3M
19.
TorsinB overexpression prevents abnormal twisting in DYT1 dystonia mouse models
Jay Li, Chun-Chi Liang, Samuel S Pappas, William T Dauer
eLife. 2020; 9: e54285. Published online 2020 Mar 23. doi: 10.7554/eLife.54285
PMCID:
PMC7141835
AbstractArticlePDF–3.1M
20.
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
AbstractArticlePDF–1.8M

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