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Items: 1 to 20 of 32

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.
Longitudinal MRI and 1H-MRS study of SCA7 mouse forebrain reveals progressive multiregional atrophy and early brain metabolite changes indicating early neuronal and glial dysfunction
Jean-Baptiste Pérot, Anna Niewiadomska-Cimicka, Emmanuel Brouillet, Yvon Trottier, Julien Flament
PLoS One. 2024; 19(1): e0296790. Published online 2024 Jan 16. doi: 10.1371/journal.pone.0296790
PMCID:
PMC10790999
AbstractArticlePDF–1.1M
3.
Mutant KRAS-activated circATXN7 fosters tumor immunoescape by sensitizing tumor-specific T cells to activation-induced cell death
Chi Zhou, Wenxin Li, Zhenxing Liang, Xianrui Wu, Sijing Cheng, Jianhong Peng, Kaixuan Zeng, Weihao Li, Ping Lan, Xin Yang, Li Xiong, Ziwei Zeng, Xiaobin Zheng, Liang Huang, Wenhua Fan, Zhanzhen Liu, Yue Xing, Liang Kang, Huashan Liu
Nat Commun. 2024; 15: 499. Published online 2024 Jan 12. doi: 10.1038/s41467-024-44779-1
PMCID:
PMC10786880
AbstractArticlePDF–12M
4.
Polyglutamine-expanded ATXN7 alters a specific epigenetic signature underlying photoreceptor identity gene expression in SCA7 mouse retinopathy
Anna Niewiadomska-Cimicka, Antoine Hache, Stéphanie Le Gras, Céline Keime, Tao Ye, Aurelie Eisenmann, Imen Harichane, Michel J. Roux, Nadia Messaddeq, Emmanuelle Clérin, Thierry Léveillard, Yvon Trottier
J Biomed Sci. 2022; 29: 107. Published online 2022 Dec 20. doi: 10.1186/s12929-022-00892-1
PMCID:
PMC9768914
AbstractArticlePDF–3.4M
5.
Altered H3 histone acetylation impairs high-fidelity DNA repair to promote cerebellar degeneration in spinocerebellar ataxia type 7
Pawel M. Switonski, Joe R. Delaney, Luke C. Bartelt, Chenchen Niu, Maria Ramos-Zapatero, Nathanael J. Spann, Akshay Alaghatta, Toby Chen, Emily N. Griffin, Jaidev Bapat, Bryce L. Sopher, Albert R. La Spada
Cell Rep. Author manuscript; available in PMC 2021 Dec 27.
Published in final edited form as: Cell Rep. 2021 Nov 30; 37(9): 110062. doi: 10.1016/j.celrep.2021.110062
PMCID:
PMC8710427
AbstractArticlePDF–1.2M
6.
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
7.
SCA7 Mouse Cerebellar Pathology Reveals Preferential Downregulation of Key Purkinje Cell-Identity Genes and Shared Disease Signature with SCA1 and SCA2
Anna Niewiadomska-Cimicka, Frédéric Doussau, Jean-Baptiste Perot, Michel J. Roux, Celine Keime, Antoine Hache, Françoise Piguet, Ariana Novati, Chantal Weber, Binnaz Yalcin, Hamid Meziane, Marie-France Champy, Erwan Grandgirard, Alice Karam, Nadia Messaddeq, Aurélie Eisenmann, Emmanuel Brouillet, Hoa Huu Phuc Nguyen, Julien Flament, Philippe Isope, Yvon Trottier
J Neurosci. 2021 Jun 2; 41(22): 4910–4936. doi: 10.1523/JNEUROSCI.1882-20.2021
PMCID:
PMC8260160
AbstractArticlePDF–9.1M
8.
A large multiethnic GWAS meta-analysis of cataract identifies new risk loci and sex-specific effects
Hélène Choquet, Ronald B. Melles, Deepti Anand, Jie Yin, Gabriel Cuellar-Partida, Wei Wang, 23andMe Research Team, Thomas J. Hoffmann, K. Saidas Nair, Pirro G. Hysi, Salil A. Lachke, Eric Jorgenson
Nat Commun. 2021; 12: 3595. Published online 2021 Jun 14. doi: 10.1038/s41467-021-23873-8
PMCID:
PMC8203611
AbstractArticlePDF–1.9M
9.
Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss
Gayle B. Collin, Navdeep Gogna, Bo Chang, Nattaya Damkham, Jai Pinkney, Lillian F. Hyde, Lisa Stone, Jürgen K. Naggert, Patsy M. Nishina, Mark P. Krebs
Cells. 2020 Apr; 9(4): 931. Published online 2020 Apr 10. doi: 10.3390/cells9040931
PMCID:
PMC7227028
AbstractArticlePDF–5.4M
10.
Nicotinamide pathway dependent Sirt1 activation restores calcium homeostasis to achieve neuroprotection in spinocerebellar ataxia type 7
Colleen A. Stoyas, David D. Bushart, Pawel M. Switonski, Jacqueline M. Ward, Akshay Alaghatta, Mi-bo Tang, Chenchen Niu, Mandheer Wadhwa, Haoran Huang, Alex Savchenko, Karim Gariani, Fang Xie, Joseph R. Delaney, Terry Gaasterland, Johan Auwerx, Vikram G. Shakkottai, Albert R. La Spada
Neuron. Author manuscript; available in PMC 2021 Feb 19.
Published in final edited form as: Neuron. 2020 Feb 19; 105(4): 630–644.e9. Published online 2019 Dec 16. doi: 10.1016/j.neuron.2019.11.019
PMCID:
PMC7147995
AbstractArticlePDF–1.3M
11.
Polyglutamine-Expanded Ataxin-7 Promotes Non-Cell-Autonomous Purkinje Cell Degeneration and Displays Proteolytic Cleavage in Ataxic Transgenic Mice
Gwenn A. Garden, Randell T. Libby, Ying-Hui Fu, Yoshito Kinoshita, Jing Huang, Daniel E. Possin, Annette C. Smith, Refugio A. Martinez, Gabriel C. Fine, Sara K. Grote, Carol B. Ware, David D. Einum, Richard S. Morrison, Louis J. Ptacek, Bryce L. Sopher, Albert R. La Spada
J Neurosci. 2002 Jun 15; 22(12): 4897–4905. doi: 10.1523/JNEUROSCI.22-12-04897.2002
PMCID:
PMC6757746
AbstractArticlePDF–988K
12.
Metabolic and Organelle Morphology Defects in Mice and Human Patients Define Spinocerebellar Ataxia Type 7 as a Mitochondrial Disease
Jacqueline M. Ward, Colleen A. Stoyas, Pawel M. Switonski, Farid Ichou, Weiwei Fan, Brett Collins, Christopher E. Wall, Isaac Adanyeguh, Chenchen Niu, Bryce L. Sopher, Chizuru Kinoshita, Richard S. Morrison, Alexandra Durr, Alysson R. Muotri, Ronald M. Evans, Fanny Mochel, Albert R. La Spada
Cell Rep. Author manuscript; available in PMC 2019 Mar 15.
Published in final edited form as: Cell Rep. 2019 Jan 29; 26(5): 1189–1202.e6. doi: 10.1016/j.celrep.2019.01.028
PMCID:
PMC6420346
AbstractArticlePDF–1.7M
13.
A CRISPR-based screen for Hedgehog signaling provides insights into ciliary function and ciliopathies
David K. Breslow, Sascha Hoogendoorn, Adam R. Kopp, David W. Morgens, Brandon K. Vu, Margaret C. Kennedy, Kyuho Han, Amy Li, Gaelen T. Hess, Michael C. Bassik, James K. Chen, Maxence V. Nachury
Nat Genet. Author manuscript; available in PMC 2018 Aug 19.
Published in final edited form as: Nat Genet. 2018 Mar; 50(3): 460–471. Published online 2018 Feb 19. doi: 10.1038/s41588-018-0054-7
PMCID:
PMC5862771
AbstractArticlePDF–2.5M
14.
Poly(Q) Expansions in ATXN7 Affect Solubility but Not Activity of the SAGA Deubiquitinating Module
Xianjiang Lan, Evangelia Koutelou, Andria C. Schibler, Yi Chun Chen, Patrick A. Grant, Sharon Y. R. Dent
Mol Cell Biol. 2015 May; 35(10): 1777–1787. Prepublished online 2015 Mar 9. Published online 2015 Apr 21. doi: 10.1128/MCB.01454-14
PMCID:
PMC4405643
AbstractArticlePDF–2.2M
15.
Histone deacetylase-3 interacts with ataxin-7 and is altered in a spinocerebellar ataxia type 7 mouse model
Carlotta E Duncan, Mahru C An, Theodora Papanikolaou, Caitlin Rugani, Cathy Vitelli, Lisa M Ellerby
Mol Neurodegener. 2013; 8: 42. Published online 2013 Oct 27. doi: 10.1186/1750-1326-8-42
PMCID:
PMC3816305
AbstractArticlePDF–2.0M
16.
Reduction of mutant ataxin-7 expression restores motor function and prevents cerebellar synaptic reorganization in a conditional mouse model of SCA7
Stephanie A. Furrer, Sarah M. Waldherr, Mathini S. Mohanachandran, Travis D. Baughn, Kien-Thiet Nguyen, Bryce L. Sopher, Vincent A. Damian, Gwenn A. Garden, Albert R. La Spada
Hum Mol Genet. 2013 Mar 1; 22(5): 890–903. Published online 2012 Nov 29. doi: 10.1093/hmg/dds495
PMCID:
PMC3561911
AbstractArticlePDF–1.2M
17.
Gcn5 loss-of-function accelerates cerebellar and retinal degeneration in a SCA7 mouse model
Yi Chun Chen, Jennifer R. Gatchel, Rebecca W. Lewis, Chai-An Mao, Patrick A. Grant, Huda Y. Zoghbi, Sharon Y.R. Dent
Hum Mol Genet. 2012 Jan 15; 21(2): 394–405. Published online 2011 Oct 14. doi: 10.1093/hmg/ddr474
PMCID:
PMC3276287
AbstractArticlePDF–674K
18.
CTCF regulates ataxin-7 expression through promotion of a convergently transcribed, antisense non-coding RNA
Bryce L. Sopher, Paula D. Ladd, Victor V. Pineda, Randell T. Libby, Susan M. Sunkin, James B. Hurley, Cortlandt P. Thienes, Terry Gaasterland, Galina N. Filippova, Albert R. La Spada
Neuron. Author manuscript; available in PMC 2012 Jun 23.
Published in final edited form as: Neuron. 2011 Jun 23; 70(6): 1071–1084. doi: 10.1016/j.neuron.2011.05.027
PMCID:
PMC3139428
AbstractArticlePDF–3.0M
19.
A High-Resolution Anatomical Atlas of the Transcriptome in the Mouse Embryo
Graciana Diez-Roux, Sandro Banfi, Marc Sultan, Lars Geffers, Santosh Anand, David Rozado, Alon Magen, Elena Canidio, Massimiliano Pagani, Ivana Peluso, Nathalie Lin-Marq, Muriel Koch, Marchesa Bilio, Immacolata Cantiello, Roberta Verde, Cristian De Masi, Salvatore A. Bianchi, Juliette Cicchini, Elodie Perroud, Shprese Mehmeti, Emilie Dagand, Sabine Schrinner, Asja Nürnberger, Katja Schmidt, Katja Metz, Christina Zwingmann, Norbert Brieske, Cindy Springer, Ana Martinez Hernandez, Sarah Herzog, Frauke Grabbe, Cornelia Sieverding, Barbara Fischer, Kathrin Schrader, Maren Brockmeyer, Sarah Dettmer, Christin Helbig, Violaine Alunni, Marie-Annick Battaini, Carole Mura, Charlotte N. Henrichsen, Raquel Garcia-Lopez, Diego Echevarria, Eduardo Puelles, Elena Garcia-Calero, Stefan Kruse, Markus Uhr, Christine Kauck, Guangjie Feng, Nestor Milyaev, Chuang Kee Ong, Lalit Kumar, MeiSze Lam, Colin A. Semple, Attila Gyenesei, Stefan Mundlos, Uwe Radelof, Hans Lehrach, Paolo Sarmientos, Alexandre Reymond, Duncan R. Davidson, Pascal Dollé, Stylianos E. Antonarakis, Marie-Laure Yaspo, Salvador Martinez, Richard A. Baldock, Gregor Eichele, Andrea Ballabio
PLoS Biol. 2011 Jan; 9(1): e1000582. Published online 2011 Jan 18. doi: 10.1371/journal.pbio.1000582
PMCID:
PMC3022534
AbstractArticlePDF–3.8M
20.
Comparison of an expanded ataxia interactome with patient medical records reveals a relationship between macular degeneration and ataxia
Juliette J. Kahle, Natali Gulbahce, Chad A. Shaw, Janghoo Lim, David E. Hill, Albert-László Barabási, Huda Y. Zoghbi
Hum Mol Genet. 2011 Feb 1; 20(3): 510–527. Published online 2010 Nov 15. doi: 10.1093/hmg/ddq496
PMCID:
PMC3016911
AbstractArticlePDF–703K

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