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Items: 1 to 20 of 52

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
AbstractArticlePDF–4.8M
2.
Regional and age-dependent changes in ubiquitination in cellular and mouse models of spinocerebellar ataxia type 3
Haiyang Luo, Sokol V. Todi, Henry L. Paulson, Maria do Carmo Costa
Front Mol Neurosci. 2023; 16: 1154203. Published online 2023 Apr 14. doi: 10.3389/fnmol.2023.1154203
PMCID:
PMC10140444
AbstractArticlePDF–2.5M
3.
Disease-associated oligodendrocyte signatures are spatiotemporally dysregulated in spinocerebellar ataxia type 3
Kristen H. Schuster, Danielle M. DiFranco, Alexandra F. Putka, Juan P. Mato, Sabrina I. Jarrah, Nicholas R. Stec, Vikram O. Sundararajan, Hayley S. McLoughlin
Front Neurosci. 2023; 17: 1118429. Published online 2023 Feb 15. doi: 10.3389/fnins.2023.1118429
PMCID:
PMC9975394
AbstractArticlePDF–4.6M
4.
Pathogenetic Mechanisms Underlying Spinocerebellar Ataxia Type 3 Are Altered in Primary Oligodendrocyte Culture
Kristen H. Schuster, Alexandra F. Putka, Hayley S. McLoughlin
Cells. 2022 Aug; 11(16): 2615. Published online 2022 Aug 22. doi: 10.3390/cells11162615
PMCID:
PMC9406561
AbstractArticlePDF–5.1M
5.
KPNB1 modulates the Machado–Joseph disease protein ataxin-3 through activation of the mitochondrial protease CLPP
Mahkameh Abeditashi, Jonasz Jeremiasz Weber, Priscila Pereira Sena, Ana Velic, Maria Kalimeri, Rana Dilara Incebacak Eltemur, Jana Schmidt, Jeannette Hübener-Schmid, Stefan Hauser, Boris Macek, Olaf Riess, Thorsten Schmidt
Cell Mol Life Sci. 2022 Aug; 79(8): 401. Published online 2022 Jul 6. doi: 10.1007/s00018-022-04372-5
PMCID:
PMC9259533
AbstractArticlePDF–4.5M
6.
A Novel SCA3 Knock-in Mouse Model Mimics the Human SCA3 Disease Phenotype Including Neuropathological, Behavioral, and Transcriptional Abnormalities Especially in Oligodendrocytes
Eva Haas, Rana D. Incebacak, Thomas Hentrich, Chrisovalantou Huridou, Thorsten Schmidt, Nicolas Casadei, Yacine Maringer, Carola Bahl, Frank Zimmermann, James D. Mills, Eleonora Aronica, Olaf Riess, Julia M. Schulze-Hentrich, Jeannette Hübener-Schmid
Mol Neurobiol. 2022; 59(1): 495–522. Published online 2021 Oct 30. doi: 10.1007/s12035-021-02610-8
PMCID:
PMC8786755
AbstractArticlePDF–10M
7.
The Deubiquitinating Enzyme Ataxin-3 Regulates Ciliogenesis and Phagocytosis in the Retina
Vasileios Toulis, Sílvia García-Monclús, Carlos de la Peña-Ramírez, Rodrigo Arenas-Galnares, Josep F. Abril, Sokol V. Todi, Naheed Khan, Alejandro Garanto, Maria do Carmo Costa, Gemma Marfany
Cell Rep. Author manuscript; available in PMC 2022 Jan 7.
Published in final edited form as: Cell Rep. 2020 Nov 10; 33(6): 108360. doi: 10.1016/j.celrep.2020.108360
PMCID:
PMC8738964
AbstractArticlePDF–3.0M
8.
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
9.
Broad Influence of Mutant Ataxin-3 on the Proteome of the Adult Brain, Young Neurons, and Axons Reveals Central Molecular Processes and Biomarkers in SCA3/MJD Using Knock-In Mouse Model
Kalina Wiatr, Łukasz Marczak, Jean-Baptiste Pérot, Emmanuel Brouillet, Julien Flament, Maciej Figiel
Front Mol Neurosci. 2021; 14: 658339. Published online 2021 Jun 17. doi: 10.3389/fnmol.2021.658339
PMCID:
PMC8248683
AbstractArticlePDF–10M
10.
Neurodegenerative phosphoprotein signaling landscape in models of SCA3
Anna S. Sowa, Taissia G. Popova, Tina Harmuth, Jonasz J. Weber, Priscila Pereira Sena, Jana Schmidt, Jeannette Hübener-Schmid, Thorsten Schmidt
Mol Brain. 2021; 14: 57. Published online 2021 Mar 19. doi: 10.1186/s13041-020-00723-0
PMCID:
PMC7980345
AbstractArticlePDF–1.5M
11.
Ubiquilin-2 differentially regulates polyglutamine disease proteins
Julia E Gerson, Nathaniel Safren, Svetlana Fischer, Ronak Patel, Emily V Crowley, Jacqueline P Welday, Alexandra K Windle, Sami Barmada, Henry L Paulson, Lisa M Sharkey
Hum Mol Genet. 2020 Aug 29; 29(15): 2596–2610. Published online 2020 Jul 18. doi: 10.1093/hmg/ddaa152
PMCID:
PMC7471500
AbstractArticlePDF–2.0M
12.
Nuclear Localization of Ataxin-3 Is Required for the Manifestation of Symptoms in SCA3: In Vivo Evidence
Ulrike Bichelmeier, Thorsten Schmidt, Jeannette Hübener, Jana Boy, Lukas Rüttiger, Karina Häbig, Sven Poths, Michael Bonin, Marlies Knipper, Werner J. Schmidt, Johannes Wilbertz, Hartwig Wolburg, Franco Laccone, Olaf Riess
J Neurosci. 2007 Jul 11; 27(28): 7418–7428. doi: 10.1523/JNEUROSCI.4540-06.2007
PMCID:
PMC6672614
AbstractArticlePDF–661K
13.
Mouse screen reveals multiple new genes underlying mouse and human hearing loss
Neil J. Ingham, Selina A. Pearson, Valerie E. Vancollie, Victoria Rook, Morag A. Lewis, Jing Chen, Annalisa Buniello, Elisa Martelletti, Lorenzo Preite, Chi Chung Lam, Felix D. Weiss, Zӧe Powis, Pim Suwannarat, Christopher J. Lelliott, Sally J. Dawson, Jacqueline K. White, Karen P. Steel
PLoS Biol. 2019 Apr; 17(4): e3000194. Published online 2019 Apr 11. doi: 10.1371/journal.pbio.3000194
PMCID:
PMC6459510
AbstractArticlePDF–5.1M
14.
Mitochondrial Morphology, Function and Homeostasis Are Impaired by Expression of an N-terminal Calpain Cleavage Fragment of Ataxin-3
Tina Harmuth, Caroline Prell-Schicker, Jonasz J. Weber, Frank Gellerich, Claudia Funke, Stefan Drießen, Janine C. D. Magg, Guido Krebiehl, Hartwig Wolburg, Stefanie N. Hayer, Stefan Hauser, Rejko Krüger, Ludger Schöls, Olaf Riess, Jeannette Hübener-Schmid
Front Mol Neurosci. 2018; 11: 368. Published online 2018 Oct 10. doi: 10.3389/fnmol.2018.00368
PMCID:
PMC6192284
AbstractArticlePDF–6.1M
15.
Loss of the Spinocerebellar Ataxia type 3 disease protein ATXN3 alters transcription of multiple signal transduction pathways
Li Zeng, Dapeng Zhang, Hayley S. McLoughlin, Annie J. Zalon, L. Aravind, Henry L. Paulson
PLoS One. 2018; 13(9): e0204438. Published online 2018 Sep 19. doi: 10.1371/journal.pone.0204438
PMCID:
PMC6145529
AbstractArticlePDF–3.7M
16.
Comparison of spinocerebellar ataxia type 3 mouse models identifies early gain-of-function, cell-autonomous transcriptional changes in oligodendrocytes
Biswarathan Ramani, Bharat Panwar, Lauren R. Moore, Bo Wang, Rogerio Huang, Yuanfang Guan, Henry L. Paulson
Hum Mol Genet. 2017 Sep 1; 26(17): 3362–3374. Published online 2017 Jun 13. doi: 10.1093/hmg/ddx224
PMCID:
PMC5886175
AbstractArticlePDF–1.2M
17.
PolyQ-expanded ataxin-3 interacts with full-length ataxin-3 in a polyQ length-dependent manner
Na-Li Jia, Er-Kang Fei, Zheng Ying, Hong-Feng Wang, Guang-Hui Wang
Neurosci Bull. 2008 Aug; 24(4): 201–208. Published online 2008 Aug 2. doi: 10.1007/s12264-008-0326-9
PMCID:
PMC5552588
AbstractArticlePDF–1.1M
18.
The Truncated C-terminal Fragment of Mutant ATXN3 Disrupts Mitochondria Dynamics in Spinocerebellar Ataxia Type 3 Models
Jung-Yu Hsu, Yu-Ling Jhang, Pei-Hsun Cheng, Yu-Fan Chang, Su-Han Mao, Han-In Yang, Chia-Wei Lin, Chuan-Mu Chen, Shang-Hsun Yang
Front Mol Neurosci. 2017; 10: 196. Published online 2017 Jun 20. doi: 10.3389/fnmol.2017.00196
PMCID:
PMC5476786
AbstractArticlePDF–600K
19.
Polyglutamine tracts regulate beclin 1-dependent autophagy
Avraham Ashkenazi, Carla F. Bento, Thomas Ricketts, Mariella Vicinanza, Farah Siddiqi, Mariana Pavel, Ferdinando Squitieri, Maarten C. Hardenberg, Sara Imarisio, Fiona M. Menzies, David C. Rubinsztein
Nature. Author manuscript; available in PMC 2017 Oct 26.
Published in final edited form as: Nature. 2017 May 4; 545(7652): 108–111. Published online 2017 Apr 26. doi: 10.1038/nature22078
PMCID:
PMC5420314
AbstractArticlePDF–5.3M
20.
The Machado–Joseph Disease Deubiquitinase Ataxin-3 Regulates the Stability and Apoptotic Function of p53
Hongmei Liu, Xiaoling Li, Guozhu Ning, Shu Zhu, Xiaolu Ma, Xiuli Liu, Chunying Liu, Min Huang, Ina Schmitt, Ullrich Wüllner, Yamei Niu, Caixia Guo, Qiang Wang, Tie-Shan Tang
PLoS Biol. 2016 Nov; 14(11): e2000733. Published online 2016 Nov 16. doi: 10.1371/journal.pbio.2000733
PMCID:
PMC5112960
AbstractArticlePDF–7.0M

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