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Select item 109455241.

Depletion of SMN protein in mesenchymal progenitors impairs the development of bone and neuromuscular junction in spinal muscular atrophy

Sang-Hyeon Hann, Seon-Yong Kim, Ye Lynne Kim, Young-Woo Jo, Jong-Seol Kang, Hyerim Park, Se-Young Choi, Young-Yun Kong

eLife. 2024; 12: RP92731. Published online 2024 Feb 6. doi: 10.7554/eLife.92731

PMCID:: PMC10945524

Abstract Article PDF–15M

Select item 106436212.

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 102700033.

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 101641304.

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 101467805.

Nifedipine Ameliorates Cellular Differentiation Defects of Smn-Deficient Motor Neurons and Enhances Neuromuscular Transmission in SMA Mice

Rocio Tejero, Mohammad Alsakkal, Luisa Hennlein, Ana M. Lopez-Cabello, Sibylle Jablonka, Lucia Tabares

Int J Mol Sci. 2023 Apr; 24(8): 7648. Published online 2023 Apr 21. doi: 10.3390/ijms24087648

PMCID:: PMC10146780

Abstract Article PDF–2.3M

Select item 100904896.

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 100774757.

DG9-conjugated morpholino rescues phenotype in SMA mice by reaching the CNS via a subcutaneous administration

Tejal Aslesh, Esra Erkut, Jun Ren, Kenji Rowel Q. Lim, Stanley Woo, Susan Hatlevig, Hong M. Moulton, Simon Gosgnach, John Greer, Rika Maruyama, Toshifumi Yokota

JCI Insight. 2023 Mar 8; 8(5): e160516. Published online 2023 Mar 8. doi: 10.1172/jci.insight.160516

PMCID:: PMC10077475

Abstract Article PDF–9.0M

Select item 99617528.

Long-Term SMN- and Ncald-ASO Combinatorial Therapy in SMA Mice and NCALD-ASO Treatment in hiPSC-Derived Motor Neurons Show Protective Effects

Anixa Muiños-Bühl, Roman Rombo, Karen K. Ling, Eleonora Zilio, Frank Rigo, C. Frank Bennett, Brunhilde Wirth

Int J Mol Sci. 2023 Feb; 24(4): 4198. Published online 2023 Feb 20. doi: 10.3390/ijms24044198

PMCID:: PMC9961752

Abstract Article PDF–7.9M

Select item 98346629.

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 981374510.

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

Abstract Article PDF–1.9M

Select item 962112811.

Microvasculopathy in spinal muscular atrophy is driven by a reversible autonomous endothelial cell defect

Haiyan Zhou, Ying Hong, Mariacristina Scoto, Alison Thomson, Emma Pead, Tom MacGillivray, Elena Hernandez-Gerez, Francesco Catapano, Jinhong Meng, Qiang Zhang, Gillian Hunter, Hannah K. Shorrock, Thomas K. Ng, Abedallah Hamida, Mathilde Sanson, Giovanni Baranello, Kevin Howell, Thomas H. Gillingwater, Paul Brogan, Dorothy A. Thompson, Simon H. Parson, Francesco Muntoni

J Clin Invest. 2022 Nov 1; 132(21): e153430. Published online 2022 Nov 1. doi: 10.1172/JCI153430

PMCID:: PMC9621128

Abstract Article PDF–10M

Select item 959909312.

SMN Is Physiologically Downregulated at Wild-Type Motor Nerve Terminals but Aggregates Together with Neurofilaments in SMA Mouse Models

Julio Franco-Espin, Alaó Gatius, José Ángel Armengol, Saravanan Arumugam, Mehri Moradi, Michael Sendtner, Jordi Calderó, Lucia Tabares

Biomolecules. 2022 Oct; 12(10): 1524. Published online 2022 Oct 20. doi: 10.3390/biom12101524

PMCID:: PMC9599093

Abstract Article PDF–8.7M

Select item 955528613.

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

Abstract Article PDF–2.0M

Select item 953334214.

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

Abstract Article PDF–2.9M

Select item 938170715.

Suppression of the necroptotic cell death pathways improves survival in Smn^2B/− mice

Lucia Chehade, Marc-Olivier Deguise, Yves De Repentigny, Rebecca Yaworski, Ariane Beauvais, Sabrina Gagnon, Niko Hensel, Rashmi Kothary

Front Cell Neurosci. 2022; 16: 972029. Published online 2022 Aug 3. doi: 10.3389/fncel.2022.972029

PMCID:: PMC9381707

Abstract Article PDF–3.4M

Select item 934274916.

Neuromuscular denervation and deafferentation but not motor neuron death are disease features in the Smn^2B/^- 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

Abstract Article PDF–2.2M

Select item 933107217.

Dysregulation of Tweak and Fn14 in skeletal muscle of spinal muscular atrophy mice

Katharina E. Meijboom, Emma R. Sutton, Eve McCallion, Emily McFall, Daniel Anthony, Benjamin Edwards, Sabrina Kubinski, Ines Tapken, Ines Bünermann, Gareth Hazell, Nina Ahlskog, Peter Claus, Kay E. Davies, Rashmi Kothary, Matthew J. A. Wood, Melissa Bowerman

Skelet Muscle. 2022; 12: 18. Published online 2022 Jul 28. doi: 10.1186/s13395-022-00301-z

PMCID:: PMC9331072

Abstract Article PDF–4.0M

Select item 909083218.

Ddx20, an Olig2 binding factor, governs the survival of neural and oligodendrocyte progenitor cells via proper Mdm2 splicing and p53 suppression

Norihisa Bizen, Asim K. Bepari, Li Zhou, Manabu Abe, Kenji Sakimura, Katsuhiko Ono, Hirohide Takebayashi

Cell Death Differ. 2022 May; 29(5): 1028–1041. Published online 2022 Jan 1. doi: 10.1038/s41418-021-00915-8

PMCID:: PMC9090832

Abstract Article PDF–8.5M

Select item 908116919.

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

Abstract Article PDF–21M

Select item 883423820.

Induction of Survival of Motor Neuron (SMN) Protein Deficiency in Spinal Astrocytes by Small Interfering RNA as an In Vitro Model of Spinal Muscular Atrophy

Markus Leo, Linda-Isabell Schmitt, Michael Fleischer, Rebecca Steffen, Cora Osswald, Christoph Kleinschnitz, Tim Hagenacker

Cells. 2022 Feb; 11(3): 558. Published online 2022 Feb 5. doi: 10.3390/cells11030558

PMCID:: PMC8834238

Abstract Article PDF–31M

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