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Items: 1 to 20 of 95

1.
Antagonistic roles of canonical and alternative-RPA in disease-associated tandem CAG repeat instability
Terence Gall-Duncan, Jennifer Luo, Carla-Marie Jurkovic, Laura A. Fischer, Kyota Fujita, Amit L. Deshmukh, Rachel J. Harding, Stephanie Tran, Mustafa Mehkary, Vanessa Li, David E. Leib, Ran Chen, Hikari Tanaka, Amanda G. Mason, Dominique Lévesque, Mahreen Khan, Mortezaali Razzaghi, Tanya Prasolava, Stella Lanni, Nozomu Sato, Marie-Christine Caron, Gagan B. Panigrahi, Peixiang Wang, Rachel Lau, Arturo López Castel, Jean-Yves Masson, Lynette Tippett, Clinton Turner, Maria Spies, Albert R. La Spada, Eric I. Campos, Maurice A. Curtis, François-Michel Boisvert, Richard L.M. Faull, Beverly L. Davidson, Masayuki Nakamori, Hitoshi Okazawa, Marc S. Wold, Christopher E. Pearson
Cell. Author manuscript; available in PMC 2024 Oct 26.
Published in final edited form as: Cell. 2023 Oct 26; 186(22): 4898–4919.e25. Published online 2023 Oct 11. doi: 10.1016/j.cell.2023.09.008
PMCID:
PMC11209935
AbstractArticlePDF–3.0M
2.
Dynamic molecular network analysis of iPSC-Purkinje cells differentiation delineates roles of ISG15 in SCA1 at the earliest stage
Hidenori Homma, Yuki Yoshioka, Kyota Fujita, Shinichi Shirai, Yuka Hama, Hajime Komano, Yuko Saito, Ichiro Yabe, Hideyuki Okano, Hidenao Sasaki, Hikari Tanaka, Hitoshi Okazawa
Commun Biol. 2024; 7: 413. Published online 2024 Apr 9. doi: 10.1038/s42003-024-06066-z
PMCID:
PMC11003991
AbstractArticlePDF–5.9M
3.
Btbd11 supports cell-type-specific synaptic function
Alexei M. Bygrave, Ayesha Sengupta, Ella P. Jackert, Mehroz Ahmed, Beloved Adenuga, Erik Nelson, Hana L. Goldschmidt, Richard C. Johnson, Haining Zhong, Felix L. Yeh, Morgan Sheng, Richard L. Huganir
Cell Rep. Author manuscript; available in PMC 2023 Oct 23.
Published in final edited form as: Cell Rep. 2023 Jun 27; 42(6): 112591. Published online 2023 May 31. doi: 10.1016/j.celrep.2023.112591
PMCID:
PMC10592477
AbstractArticlePDF–3.6M
4.
Early molecular layer interneuron hyperactivity triggers Purkinje neuron degeneration in SCA1
Federica Pilotto, Christopher Douthwaite, Rim Diab, XiaoQian Ye, Zahraa Al qassab, Christoph Tietje, Meriem Mounassir, Adolfo Odriozola, Aishwarya Thapa, Ronald A.M. Buijsen, Sophie Lagache, Anne-Christine Uldry, Manfred Heller, Stefan Müller, Willeke M.C. van Roon-Mom, Benoît Zuber, Sabine Liebscher, Smita Saxena
Neuron. 2023 Aug 16; 111(16): 2523–2543.e10. doi: 10.1016/j.neuron.2023.05.016
PMCID:
PMC10431915
AbstractArticle
5.
Experimental Treatment with Edaravone in a Mouse Model of Spinocerebellar Ataxia 1
Martina Sucha, Simona Benediktova, Filip Tichanek, Jan Jedlicka, Stepan Kapl, Dana Jelinkova, Zdenka Purkartova, Jan Tuma, Jitka Kuncova, Jan Cendelin
Int J Mol Sci. 2023 Jul; 24(13): 10689. Published online 2023 Jun 26. doi: 10.3390/ijms241310689
PMCID:
PMC10341848
AbstractArticlePDF–11M
6.
Decreasing Mutant ATXN1 Nuclear Localization Improves a Spectrum of SCA1-Like Phenotypes and Brain Region Transcriptomic Profiles
Hillary P. Handler, Lisa Duvick, Jason S. Mitchell, Marija Cvetanovic, Molly Reighard, Alyssa Soles, Kathleen B. Mather, Orion Rainwater, Shannah Serres, Tessa Nichols-Meade, Stephanie L. Coffin, Yun You, Brian L. Ruis, Brennon O’Callaghan, Christine Henzler, Huda Y. Zoghbi, Harry T. Orr
Neuron. Author manuscript; available in PMC 2024 Feb 15.
Published in final edited form as: Neuron. 2023 Feb 15; 111(4): 493–507.e6. Published online 2022 Dec 27. doi: 10.1016/j.neuron.2022.11.017
PMCID:
PMC9957934
AbstractArticlePDF–1.6M
7.
Disruption of the ATXN1-CIC complex reveals the role of additional nuclear ATXN1 interactors in spinocerebellar ataxia type 1
Stephanie L. Coffin, Mark A. Durham, Larissa Nitschke, Eder Xhako, Amanda M. Brown, Jean-Pierre Revelli, Esmeralda Villavicencio Gonzalez, Tao Lin, Hillary P. Handler, Yanwan Dai, Alexander J. Trostle, Ying-Wooi Wan, Zhandong Liu, Roy V. Sillitoe, Harry T. Orr, Huda Y. Zoghbi
Neuron. Author manuscript; available in PMC 2023 Feb 25.
Published in final edited form as: Neuron. 2023 Feb 15; 111(4): 481–492.e8. Published online 2022 Dec 27. doi: 10.1016/j.neuron.2022.11.016
Correction in:
Neuron. 2023 Mar 15; 111(6): 915.
PMCID:
PMC9957872
AbstractArticlePDF–1.7M
8.
Identifying Disease Signatures in the Spinocerebellar Ataxia Type 1 Mouse Cortex
Kimberly Luttik, Victor Olmos, Ashley Owens, Aryaan Khan, Joy Yun, Terri Driessen, Janghoo Lim
Cells. 2022 Sep; 11(17): 2632. Published online 2022 Aug 24. doi: 10.3390/cells11172632
PMCID:
PMC9454518
AbstractArticlePDF–3.6M
9.
Differential effects of Wnt-β-catenin signaling in Purkinje cells and Bergmann glia in spinocerebellar ataxia type 1
Kimberly Luttik, Leon Tejwani, Hyoungseok Ju, Terri Driessen, Cleo J. L. M. Smeets, Chandrakanth Reddy Edamakanti, Aryaan Khan, Joy Yun, Puneet Opal, Janghoo Lim
Proc Natl Acad Sci U S A. 2022 Aug 23; 119(34): e2208513119. Published online 2022 Aug 15. doi: 10.1073/pnas.2208513119
PMCID:
PMC9407543
AbstractArticlePDF–2.6M
10.
Temporal analysis of enhancers during mouse cerebellar development reveals dynamic and novel regulatory functions
Miguel Ramirez, Yuliya Badayeva, Joanna Yeung, Joshua Wu, Ayasha Abdalla-Wyse, Erin Yang, FANTOM 5 Consortium, Brett Trost, Stephen W Scherer, Daniel Goldowitz
eLife. 2022; 11: e74207. Published online 2022 Aug 9. doi: 10.7554/eLife.74207
PMCID:
PMC9398453
AbstractArticlePDF–5.5M
11.
Indirect Negative Effect of Mutant Ataxin-1 on Short- and Long-Term Synaptic Plasticity in Mouse Models of Spinocerebellar Ataxia Type 1
Anton N. Shuvaev, Olga S. Belozor, Oleg I. Mozhei, Andrey N. Shuvaev, Yana V. Fritsler, Elena D. Khilazheva, Angelina I. Mosyagina, Hirokazu Hirai, Anja G. Teschemacher, Sergey Kasparov
Cells. 2022 Jul; 11(14): 2247. Published online 2022 Jul 20. doi: 10.3390/cells11142247
PMCID:
PMC9317252
AbstractArticlePDF–2.4M
12.
Reduction of mutant ATXN1 rescues premature death in a conditional SCA1 mouse model
James P. Orengo, Larissa Nitschke, Meike E. van der Heijden, Nicholas A. Ciaburri, Harry T. Orr, Huda Y. Zoghbi
JCI Insight. 2022 Apr 22; 7(8): e154442. Published online 2022 Apr 22. doi: 10.1172/jci.insight.154442
PMCID:
PMC9089789
AbstractArticlePDF–8.3M
13.
Intercellular Propagation and Aggregate Seeding of Mutant Ataxin-1
Haoyang Huang, Nicholas Toker, Eliza Burr, Jeff Okoro, Maia Moog, Casey Hearing, Sarita Lagalwar
J Mol Neurosci. 2022; 72(4): 708–718. Published online 2021 Nov 26. doi: 10.1007/s12031-021-01944-1
PMCID:
PMC8986690
AbstractArticlePDF–1.6M
14.
Loss of zinc-finger protein 212 leads to Purkinje cell death and locomotive abnormalities with phospholipase D3 downregulation
Rin Khang, Areum Jo, Hojin Kang, Hanna Kim, Eunsang Kwag, Ji-Yeong Lee, Okjae Koo, Jinsu Park, Hark Kyun Kim, Dong-Gyu Jo, Inwoo Hwang, Jee-Yin Ahn, Yunjong Lee, Jeong-Yun Choi, Yun-Song Lee, Joo-Ho Shin
Sci Rep. 2021; 11: 22745. Published online 2021 Nov 23. doi: 10.1038/s41598-021-02218-x
PMCID:
PMC8610974
AbstractArticlePDF–2.5M
15.
Sphingolipid metabolism governs Purkinje cell patterned degeneration in Atxn1[82Q]/+ mice
François G. C. Blot, Wilhelmina H. J. J. Krijnen, Sandra Den Hoedt, Catarina Osório, Joshua J. White, Monique T. Mulder, Martijn Schonewille
Proc Natl Acad Sci U S A. 2021 Sep 7; 118(36): e2016969118. Published online 2021 Sep 3. doi: 10.1073/pnas.2016969118
PMCID:
PMC8433568
AbstractArticlePDF–1.7M
16.
Pharmacological characterization of mutant huntingtin aggregate-directed PET imaging tracer candidates
Frank Herrmann, Manuela Hessmann, Sabine Schaertl, Karola Berg-Rosseburg, Christopher J Brown, Galina Bursow, Anass Chiki, Andreas Ebneth, Miriam Gehrmann, Nicole Hoeschen, Madlen Hotze, Stefanie Jahn, Peter D Johnson, Vinod Khetarpal, Alex Kiselyov, Karsten Kottig, Stefanie Ladewig, Hilal Lashuel, Sven Letschert, Matthew R Mills, Kathrin Petersen, Michael E Prime, Christoph Scheich, Gerhard Schmiedel, John Wityak, Longbin Liu, Celia Dominguez, Ignacio Muñoz-Sanjuán, Jonathan A Bard
Sci Rep. 2021; 11: 17977. Published online 2021 Sep 9. doi: 10.1038/s41598-021-97334-z
PMCID:
PMC8429736
AbstractArticlePDF–2.0M
17.
Region‐specific preservation of Purkinje cell morphology and motor behavior in the ATXN1[82Q] mouse model of spinocerebellar ataxia 1
Joshua J. White, Laurens W. J. Bosman, Francois G. C. Blot, Catarina Osório, Bram W. Kuppens, Wilhelmina H. J. J. Krijnen, Charlotte Andriessen, Chris I. De Zeeuw, Dick Jaarsma, Martijn Schonewille
Brain Pathol. 2021 Sep; 31(5): e12946. Published online 2021 Mar 16. doi: 10.1111/bpa.12946
PMCID:
PMC8412070
AbstractArticlePDF–3.4M
18.
Cerebellar contribution to the cognitive alterations in SCA1: evidence from mouse models
Melissa Asher, Juao-Guilherme Rosa, Orion Rainwater, Lisa Duvick, Michael Bennyworth, Ruo-Yah Lai, CRC-SCA, Sheng-Han Kuo, Marija Cvetanovic
Hum Mol Genet. 2020 Jan 1; 29(1): 117–131. Published online 2019 Nov 7. doi: 10.1093/hmg/ddz265
PMCID:
PMC8216071
AbstractArticlePDF–1.3M
19.
BraInMap elucidates the macromolecular connectivity landscape of mammalian brain
Reza Pourhaghighi, Peter E. A. Ash, Sadhna Phanse, Florian Goebels, Lucas Z. M. Hu, Siwei Chen, Yingying Zhang, Shayne D. Wierbowski, Samantha Boudeau, Mohamed T. Moutaoufik, Ramy H. Malty, Edyta Malolepsza, Kalliopi Tsafou, Aparna Nathan, Graham Cromar, Hongbo Guo, Ali Al Abdullatif, Daniel J. Apicco, Lindsay A. Becker, Aaron D. Gitler, Stefan M. Pulst, Ahmed Youssef, Ryan Hekman, Pierre C. Havugimana, Carl A. White, Benjamin C. Blum, Antonia Ratti, Camron D. Bryant, John Parkinson, Kasper Lage, Mohan Babu, Haiyuan Yu, Gary D. Bader, Benjamin Wolozin, Andrew Emili
Cell Syst. Author manuscript; available in PMC 2021 Apr 22.
Published in final edited form as: Cell Syst. 2020 Apr 22; 10(4): 333–350.e14. doi: 10.1016/j.cels.2020.03.003
Correction in:
Cell Syst. 2020 Aug 26; 11(2): 208.
PMCID:
PMC7938770
AbstractArticlePDF–2.0M
20.
Modulation of ATXN1 S776 phosphorylation reveals the importance of allele-specific targeting in SCA1
Larissa Nitschke, Stephanie L. Coffin, Eder Xhako, Dany B. El-Najjar, James P. Orengo, Elizabeth Alcala, Yanwan Dai, Ying-Wooi Wan, Zhandong Liu, Harry T. Orr, Huda Y. Zoghbi
JCI Insight. 2021 Feb 8; 6(3): e144955. Published online 2021 Feb 8. doi: 10.1172/jci.insight.144955
PMCID:
PMC7934855
AbstractArticlePDF–7.8M

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