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Select item 110835721.

Systemic LPS Administration Stimulates the Activation of Non-Neuronal Cells in an Experimental Model of Spinal Muscular Atrophy

Eleni Karafoulidou, Evangelia Kesidou, Paschalis Theotokis, Chrystalla Konstantinou, Maria-Konstantina Nella, Iliana Michailidou, Olga Touloumi, Eleni Polyzoidou, Ilias Salamotas, Ofira Einstein, Athanasios Chatzisotiriou, Marina-Kleopatra Boziki, Nikolaos Grigoriadis

Cells. 2024 May; 13(9): 785. Published online 2024 May 4. doi: 10.3390/cells13090785

PMCID:: PMC11083572

Abstract Article PDF–4.6M

Select item 110186312.

Improved gene therapy for spinal muscular atrophy in mice using codon-optimized hSMN1 transgene and hSMN1 gene-derived promotor

Qing Xie, Xiupeng Chen, Hong Ma, Yunxiang Zhu, Yijie Ma, Leila Jalinous, Gerald F Cox, Fiona Weaver, Jun Yang, Zachary Kennedy, Alisha Gruntman, Ailing Du, Qin Su, Ran He, Phillip WL Tai, Guangping Gao, Jun Xie

EMBO Mol Med. 2024 Apr; 16(4): 945–965. Published online 2024 Feb 27. doi: 10.1038/s44321-024-00037-x

PMCID:: PMC11018631

Abstract Article PDF–13M

Select item 109406633.

mGluR7 allosteric modulator AMN082 corrects protein synthesis and pathological phenotypes in FXS

Vipendra Kumar, Kwan Young Lee, Anirudh Acharya, Matthew S Babik, Catherine A Christian-Hinman, Justin S Rhodes, Nien-Pei Tsai

EMBO Mol Med. 2024 Mar; 16(3): 506–522. Published online 2024 Feb 19. doi: 10.1038/s44321-024-00038-w

PMCID:: PMC10940663

Abstract Article PDF–3.6M

Select item 109176604.

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

Abstract Article PDF–4.8M

Select item 106436215.

SMN deficiency perturbs monoamine neurotransmitter metabolism in spinal muscular atrophy

Valeria Valsecchi, Francesco Errico, Valentina Bassareo, Carmen Marino, Tommaso Nuzzo, Paola Brancaccio, Giusy Laudati, Antonella Casamassa, Manuela Grimaldi, Adele D’Amico, Manolo Carta, Enrico Bertini, Giuseppe Pignataro, Anna Maria D’Ursi, Alessandro Usiello

Commun Biol. 2023; 6: 1155. Published online 2023 Nov 13. doi: 10.1038/s42003-023-05543-1

PMCID:: PMC10643621

Abstract Article PDF–6.3M

Select item 106308836.

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

Abstract Article PDF–2.9M

Select item 105740147.

Diaphragm Fatigue in SMNΔ7 Mice and Its Molecular Determinants: An Underestimated Issue

Francesca Cadile, Deborah Recchia, Massimiliano Ansaldo, Paola Rossi, Giorgia Rastelli, Simona Boncompagni, Lorenza Brocca, Maria Antonietta Pellegrino, Monica Canepari

Int J Mol Sci. 2023 Oct; 24(19): 14953. Published online 2023 Oct 6. doi: 10.3390/ijms241914953

PMCID:: PMC10574014

Abstract Article PDF–3.3M

Select item 102931748.

Evaluation of the orally bioavailable 4-phenylbutyrate-tethered trichostatin A analogue AR42 in models of spinal muscular atrophy

Casey J. Lumpkin, Ashlee W. Harris, Andrew J. Connell, Ryan W. Kirk, Joshua A. Whiting, Luciano Saieva, Livio Pellizzoni, Arthur H. M. Burghes, Matthew E. R. Butchbach

Sci Rep. 2023; 13: 10374. Published online 2023 Jun 26. doi: 10.1038/s41598-023-37496-0

PMCID:: PMC10293174

Abstract Article PDF–4.5M

Select item 102700039.

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

Abstract Article PDF–1.7M

Select item 1020895810.

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

Abstract Article PDF–7.0M

Select item 1016413011.

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

Abstract Article PDF–3.4M

Select item 1009048912.

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

Abstract Article PDF–3.7M

Select item 993821613.

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

Abstract Article PDF–5.3M

Select item 992628114.

Agonist of growth hormone-releasing hormone improves the disease features of spinal muscular atrophy mice

Marina Boido, Iacopo Gesmundo, Anna Caretto, Francesca Pedrolli, Roberta Schellino, Sheila Leone, Renzhi Cai, Wei Sha, Ezio Ghigo, Andrew V. Schally, Alessandro Vercelli, Riccarda Granata

Proc Natl Acad Sci U S A. 2023 Jan 10; 120(2): e2216814120. Published online 2023 Jan 5. doi: 10.1073/pnas.2216814120

PMCID:: PMC9926281

Abstract Article PDF–2.5M

Select item 983466215.

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

Abstract Article PDF–4.2M

Select item 982753016.

Plastin 3 rescues cell surface translocation and activation of TrkB in spinal muscular atrophy

Luisa Hennlein, Hanaa Ghanawi, Florian Gerstner, Eduardo Palominos García, Ezgi Yildirim, Lena Saal-Bauernschubert, Mehri Moradi, Chunchu Deng, Teresa Klein, Silke Appenzeller, Markus Sauer, Michael Briese, Christian Simon, Michael Sendtner, Sibylle Jablonka

J Cell Biol. 2023 Mar 6; 222(3): e202204113. Published online 2023 Jan 6. doi: 10.1083/jcb.202204113