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Select item 110039911.

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

Abstract Article PDF–5.9M

Select item 105924772.

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

Abstract Article PDF–3.6M

Select item 104319153.

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

Abstract Article

Select item 103418484.

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

Abstract Article PDF–11M

Select item 99579345.

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

Abstract Article PDF–1.6M

Select item 99578726.

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

Abstract Article PDF–1.7M

Select item 94545187.

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

Abstract Article PDF–3.6M

Select item 94075438.

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

Abstract Article PDF–2.6M

Select item 93984539.

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

Abstract Article PDF–5.5M

Select item 931725210.

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

Abstract Article PDF–2.4M

Select item 908978911.

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

Abstract Article PDF–8.3M

Select item 898669012.

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

Abstract Article PDF–1.6M

Select item 861097413.

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

Abstract Article PDF–2.5M

Select item 843356814.

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

Abstract Article PDF–1.7M

Select item 842973615.

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

Abstract Article PDF–2.0M

Select item 841207016.

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

Abstract Article PDF–3.4M

Select item 821607117.

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

Abstract Article PDF–1.3M

Select item 793877018.

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

Abstract Article PDF–2.0M

Select item 793485519.

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

Abstract Article PDF–7.8M

Select item 781931320.

The novel multiple sclerosis susceptibility gene ATXN1 regulates B cell receptor signaling in B-1a cells

Qin Ma, Alessandro Didonna

Mol Brain. 2021; 14: 19. Published online 2021 Jan 21. doi: 10.1186/s13041-020-00715-0

PMCID:: PMC7819313

Abstract Article PDF–1.7M

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