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Items: 1 to 20 of 166

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.
PRMT inhibitor promotes SMN2 exon 7 inclusion and synergizes with nusinersen to rescue SMA mice
Anna J Kordala, Jessica Stoodley, Nina Ahlskog, Muhammad Hanifi, Antonio Garcia Guerra, Amarjit Bhomra, Wooi Fang Lim, Lyndsay M Murray, Kevin Talbot, Suzan M Hammond, Matthew JA Wood, Carlo Rinaldi
EMBO Mol Med. 2023 Nov; 15(11): e17683. Published online 2023 Sep 19. doi: 10.15252/emmm.202317683
PMCID:
PMC10630883
AbstractArticlePDF–2.9M
3.
Base editing rescue of spinal muscular atrophy in cells and in mice
Mandana Arbab, Zaneta Matuszek, Kaitlyn M. Kray, Ailing Du, Gregory A. Newby, Anton J. Blatnik, Aditya Raguram, Michelle F. Richter, Kevin T. Zhao, Jonathan M. Levy, Max W. Shen, W. David Arnold, Dan Wang, Jun Xie, Guangping Gao, Arthur H. M. Burghes, David R. Liu
Science. Author manuscript; available in PMC 2023 Jun 15.
Published in final edited form as: Science. 2023 Apr 21; 380(6642): eadg6518. Published online 2023 Apr 14. doi: 10.1126/science.adg6518
PMCID:
PMC10270003
AbstractArticlePDF–1.7M
4.
Impaired OTUD7A-dependent Ankyrin regulation mediates neuronal dysfunction in mouse and human models of the 15q13.3 microdeletion syndrome
Brianna K. Unda, Leon Chalil, Sehyoun Yoon, Savannah Kilpatrick, Courtney Irwin, Sansi Xing, Nadeem Murtaza, Anran Cheng, Chad Brown, Alexandria Afonso, Elizabeth McCready, Gabriel M. Ronen, Jennifer Howe, Aurélie Caye-Eude, Alain Verloes, Brad W. Doble, Laurence Faivre, Antonio Vitobello, Stephen W. Scherer, Yu Lu, Peter Penzes, Karun K. Singh
Mol Psychiatry. 2023; 28(4): 1747–1769. Published online 2023 Jan 6. doi: 10.1038/s41380-022-01937-5
PMCID:
PMC10208958
AbstractArticlePDF–7.0M
5.
A spinal muscular atrophy modifier implicates the SMN protein in SNARE complex assembly at neuromuscular synapses
Jeong-Ki Kim, Narendra N. Jha, Tomoyuki Awano, Charlotte Caine, Kishore Gollapalli, Emily Welby, Seung-Soo Kim, Andrea Fuentes-Moliz, Xueyong Wang, Zhihua Feng, Fusako Sera, Taishi Takeda, Shunichi Homma, Chien-Ping Ko, Lucia Tabares, Allison D. Ebert, Mark M. Rich, Umrao R. Monani
Neuron. Author manuscript; available in PMC 2024 May 3.
Published in final edited form as: Neuron. 2023 May 3; 111(9): 1423–1439.e4. Published online 2023 Mar 1. doi: 10.1016/j.neuron.2023.02.004
PMCID:
PMC10164130
AbstractArticlePDF–3.4M
6.
MiR34 contributes to spinal muscular atrophy and AAV9-mediated delivery of MiR34a ameliorates the motor deficits in SMA mice
Tai-Heng Chen, Shih-Hsin Chang, Yu-Fu Wu, Ya-Ping Yen, Fang-Yu Hsu, Yen-Chung Chen, Yang Ming, Ho-Chiang Hsu, Yi-Ching Su, Sheng-Tang Wong, Jui-Hung Hung, Shih-Hwa Chiou, Yuh-Jyh Jong, Jun-An Chen
Mol Ther Nucleic Acids. 2023 Jun 13; 32: 144–160. Published online 2023 Mar 15. doi: 10.1016/j.omtn.2023.03.005
PMCID:
PMC10090489
AbstractArticlePDF–3.7M
7.
Rescue of neuropsychiatric phenotypes in a mouse model of 16p11.2 duplication syndrome by genetic correction of an epilepsy network hub
Marc P. Forrest, Marc Dos Santos, Nicolas H. Piguel, Yi-Zhi Wang, Nicole A. Hawkins, Vikram A. Bagchi, Leonardo E. Dionisio, Sehyoun Yoon, Dina Simkin, Maria Dolores Martin-de-Saavedra, Ruoqi Gao, Katherine E. Horan, Alfred L. George, Jr., Mark S. LeDoux, Jennifer A. Kearney, Jeffrey N. Savas, Peter Penzes
Nat Commun. 2023; 14: 825. Published online 2023 Feb 17. doi: 10.1038/s41467-023-36087-x
PMCID:
PMC9938216
AbstractArticlePDF–5.3M
8.
SMN promotes mitochondrial metabolic maturation during myogenesis by regulating the MYOD-miRNA axis
Akihiro Ikenaka, Yohko Kitagawa, Michiko Yoshida, Chuang-Yu Lin, Akira Niwa, Tatsutoshi Nakahata, Megumu K Saito
Life Sci Alliance. 2023 Mar; 6(3): e202201457. Published online 2023 Jan 5. doi: 10.26508/lsa.202201457
PMCID:
PMC9834662
AbstractArticlePDF–4.2M
9.
Survival motor neuron protein and neurite degeneration are regulated by Gemin3 in spinal muscular atrophy motoneurons
Maria P. Miralles, Alba Sansa, Maria Beltran, Rosa M. Soler, Ana Garcera
Front Cell Neurosci. 2022; 16: 1054270. Published online 2022 Dec 22. doi: 10.3389/fncel.2022.1054270
PMCID:
PMC9813745
AbstractArticlePDF–1.9M
10.
Glutamate can act as a signaling molecule in mouse preimplantation embryos
Alexandra Špirková, Veronika Kovaříková, Zuzana Šefčíková, Jozef Pisko, Martina Kšiňanová, Juraj Koppel, Dušan Fabian, Štefan Čikoš
Biol Reprod. 2022 Oct; 107(4): 916–927. Published online 2022 Jun 23. doi: 10.1093/biolre/ioac126
PMCID:
PMC9562114
AbstractArticlePDF–1.5M
11.
Counteracting chromatin effects of a splicing-correcting antisense oligonucleotide improves its therapeutic efficacy in spinal muscular atrophy
Luciano E. Marasco, Gwendal Dujardin, Rui Sousa-Luís, Ying Hsiu Liu, José Stigliano, Tomoki Nomakuchi, Nick J. Proudfoot, Adrian R. Krainer, Alberto R. Kornblihtt
Cell. Author manuscript; available in PMC 2023 Jun 9.
Published in final edited form as: Cell. 2022 Jun 9; 185(12): 2057–2070.e15. doi: 10.1016/j.cell.2022.04.031
PMCID:
PMC9555286
AbstractArticlePDF–2.0M
12.
SMN controls neuromuscular junction integrity through U7 snRNP
Sarah Tisdale, Meaghan Van Alstyne, Christian M. Simon, George Z. Mentis, Livio Pellizzoni
Cell Rep. Author manuscript; available in PMC 2022 Oct 5.
Published in final edited form as: Cell Rep. 2022 Sep 20; 40(12): 111393. doi: 10.1016/j.celrep.2022.111393
PMCID:
PMC9533342
AbstractArticlePDF–2.9M
13.
Neuromuscular denervation and deafferentation but not motor neuron death are disease features in the Smn2B/- mouse model of SMA
Maria J. Carlini, Marina K. Triplett, Livio Pellizzoni
PLoS One. 2022; 17(8): e0267990. Published online 2022 Aug 1. doi: 10.1371/journal.pone.0267990
PMCID:
PMC9342749
AbstractArticlePDF–2.2M
14.
Survival motor neuron protein deficiency alters microglia reactivity
Guzal Khayrullina, Zaida A. Alipio‐Gloria, Marc‐Olivier Deguise, Sabrina Gagnon, Lucia Chehade, Matthew Stinson, Natalya Belous, Elizabeth M. Bergman, Fritz W. Lischka, Jeremy Rotty, Clifton L. Dalgard, Rashmi Kothary, Kristen A. Johnson, Barrington G. Burnett
Glia. 2022 Jul; 70(7): 1337–1358. Published online 2022 Apr 4. doi: 10.1002/glia.24177
PMCID:
PMC9081169
AbstractArticlePDF–21M
15.
Sumoylation regulates the assembly and activity of the SMN complex
Giulietta M. Riboldi, Irene Faravelli, Takaaki Kuwajima, Nicolas Delestrée, Georgia Dermentzaki, Mariangels De Planell-Saguer, Paola Rinchetti, Le Thi Hao, Christine C. Beattie, Stefania Corti, Serge Przedborski, George Z. Mentis, Francesco Lotti
Nat Commun. 2021; 12: 5040. Published online 2021 Aug 19. doi: 10.1038/s41467-021-25272-5
PMCID:
PMC8376998
AbstractArticlePDF–6.9M
16.
Activation of Muscle-Specific Kinase (MuSK) Reduces Neuromuscular Defects in the Delta7 Mouse Model of Spinal Muscular Atrophy (SMA)
Zhihua Feng, Steven Lam, Elena-Marie Sandino Tenn, Arundhati Sengupta Ghosh, Sarah Cantor, Wei Zhang, Pei-Fen Yen, Karen S. Chen, Steven Burden, Sergey Paushkin, Gai Ayalon, Chien-Ping Ko
Int J Mol Sci. 2021 Aug; 22(15): 8015. Published online 2021 Jul 27. doi: 10.3390/ijms22158015
PMCID:
PMC8348537
AbstractArticlePDF–3.4M
17.
Spinal Muscular Atrophy autophagy profile is tissue-dependent: differential regulation between muscle and motoneurons
Alba Sansa, Ivan Hidalgo, Maria P. Miralles, Sandra de la Fuente, M. Jose Perez-Garcia, Francina Munell, Rosa M. Soler, Ana Garcera
Acta Neuropathol Commun. 2021; 9: 122. Published online 2021 Jul 3. doi: 10.1186/s40478-021-01223-5
PMCID:
PMC8254901
AbstractArticlePDF–1.6M
18.
Gain of toxic function by long-term AAV9-mediated SMN overexpression in the sensory-motor circuit
Meaghan Van Alstyne, Ivan Tattoli, Nicolas Delestree, Yocelyn Recinos, Eileen Workman, Lamya S. Shihabuddin, Chaolin Zhang, George Z. Mentis, Livio Pellizzoni
Nat Neurosci. Author manuscript; available in PMC 2021 Oct 1.
Published in final edited form as: Nat Neurosci. 2021 Jul; 24(7): 930–940. Published online 2021 Apr 1. doi: 10.1038/s41593-021-00827-3
PMCID:
PMC8254787
AbstractArticlePDF–6.5M
19.
Impaired prenatal motor axon development necessitates early therapeutic intervention in severe SMA
Lingling Kong, David O. Valdivia, Christian M. Simon, Cera W. Hassinan, Nicolas Delestrée, Daniel M. Ramos, Jae Hong Park, Celeste M. Pilato, Xixi Xu, Melissa Crowder, Chloe C. Grzyb, Zachary A. King, Marco Petrillo, Kathryn J. Swoboda, Crystal Davis, Cathleen M. Lutz, Alexander H. Stephan, Xin Zhao, Marla Weetall, Nikolai A. Naryshkin, Thomas O. Crawford, George Z. Mentis, Charlotte J. Sumner
Sci Transl Med. Author manuscript; available in PMC 2021 Jun 16.
Published in final edited form as: Sci Transl Med. 2021 Jan 27; 13(578): eabb6871. doi: 10.1126/scitranslmed.abb6871
PMCID:
PMC8208236
AbstractArticlePDF–3.4M
20.
Dysregulation of Muscle-Specific MicroRNAs as Common Pathogenic Feature Associated with Muscle Atrophy in ALS, SMA and SBMA: Evidence from Animal Models and Human Patients
Claudia Malacarne, Mariarita Galbiati, Eleonora Giagnorio, Paola Cavalcante, Franco Salerno, Francesca Andreetta, Cinza Cagnoli, Michela Taiana, Monica Nizzardo, Stefania Corti, Viviana Pensato, Anna Venerando, Cinzia Gellera, Silvia Fenu, Davide Pareyson, Riccardo Masson, Lorenzo Maggi, Eleonora Dalla Bella, Giuseppe Lauria, Renato Mantegazza, Pia Bernasconi, Angelo Poletti, Silvia Bonanno, Stefania Marcuzzo
Int J Mol Sci. 2021 Jun; 22(11): 5673. Published online 2021 May 26. doi: 10.3390/ijms22115673
PMCID:
PMC8198536
AbstractArticlePDF–10M

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