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Items: 1 to 20 of 334

1.
Liver SMN restoration rescues the Smn2B/- mouse model of spinal muscular atrophy
Emma R. Sutton, Ariane Beauvais, Rebecca Yaworski, Yves De Repentigny, Aoife Reilly, Monique Marylin Alves de Almeida, Marc-Olivier Deguise, Kathy L. Poulin, Robin J. Parks, Bernard L. Schneider, Rashmi Kothary
eBioMedicine. 2024 Dec; 110: 105444. Published online 2024 Nov 7. doi: 10.1016/j.ebiom.2024.105444
PMCID:
PMC11583733
AbstractArticlePDF–4.4M
2.
Understanding the Role of the SMN Complex Component GEMIN5 and Its Functional Relationship with Demethylase KDM6B in the Flunarizine-Mediated Neuroprotection of Motor Neuron Disease Spinal Muscular Atrophy
Badih Salman, Emeline Bon, Perrine Delers, Steve Cottin, Elena Pasho, Sorana Ciura, Delphine Sapaly, Suzie Lefebvre
Int J Mol Sci. 2024 Sep; 25(18): 10039. Published online 2024 Sep 18. doi: 10.3390/ijms251810039
PMCID:
PMC11431868
AbstractArticlePDF–3.2M
3.
Physiological Features of the Neural Stem Cells Obtained from an Animal Model of Spinal Muscular Atrophy and Their Response to Antioxidant Curcumin
Raffaella Adami, Matteo Pezzotta, Francesca Cadile, Beatrice Cuniolo, Gianenrico Rovati, Monica Canepari, Daniele Bottai
Int J Mol Sci. 2024 Aug; 25(15): 8364. Published online 2024 Jul 31. doi: 10.3390/ijms25158364
PMCID:
PMC11313061
AbstractArticlePDF–2.8M
4.
Improved therapeutic approach for spinal muscular atrophy via ubiquitination‐resistant survival motor neuron variant
Joonwoo Rhee, Jong‐Seol Kang, Young‐Woo Jo, Kyusang Yoo, Ye Lynne Kim, Sang‐Hyeon Hann, Yea‐Eun Kim, Hyun Kim, Ji‐Hoon Kim, Young‐Yun Kong
J Cachexia Sarcopenia Muscle. 2024 Aug; 15(4): 1404–1417. Published online 2024 Apr 22. doi: 10.1002/jcsm.13486
PMCID:
PMC11294043
AbstractArticlePDF–3.7M
5.
Therapeutic strategy for spinal muscular atrophy by combining gene supplementation and genome editing
Fumiyuki Hatanaka, Keiichiro Suzuki, Kensaku Shojima, Jingting Yu, Yuta Takahashi, Akihisa Sakamoto, Javier Prieto, Maxim Shokhirev, Estrella Nuñez Delicado, Concepcion Rodriguez Esteban, Juan Carlos Izpisua Belmonte
Nat Commun. 2024; 15: 6191. Published online 2024 Jul 24. doi: 10.1038/s41467-024-50095-5
PMCID:
PMC11269569
AbstractArticlePDF–3.4M
6.
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
AbstractArticlePDF–4.6M
7.
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
AbstractArticlePDF–13M
8.
Administration of adipose-derived stem cells extracellular vesicles in a murine model of spinal muscular atrophy: effects of a new potential therapeutic strategy
Federica Virla, Ermanna Turano, Ilaria Scambi, Lorenzo Schiaffino, Marina Boido, Raffaella Mariotti
Stem Cell Res Ther. 2024; 15: 94. Published online 2024 Apr 1. doi: 10.1186/s13287-024-03693-5
Correction in:
Stem Cell Res Ther. 2024; 15: 126.
PMCID:
PMC10986013
AbstractArticlePDF–7.6M
9.
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
AbstractArticlePDF–15M
10.
Alteration of LARGE1 abundance in patients and a mouse model of 5q-associated spinal muscular atrophy
Andreas Roos, Linda-Isabell Schmitt, Christina Hansmann, Stefanie Hezel, Schahin Salmanian, Andreas Hentschel, Nancy Meyer, Adela Della Marina, Heike Kölbel, Christoph Kleinschnitz, Ulrike Schara-Schmidt, Markus Leo, Tim Hagenacker
Acta Neuropathol. 2024; 147(1): 53. Published online 2024 Mar 12. doi: 10.1007/s00401-024-02709-x
PMCID:
PMC10933199
AbstractArticlePDF–3.1M
11.
A transcriptomics-based drug repositioning approach to identify drugs with similar activities for the treatment of muscle pathologies in spinal muscular atrophy (SMA) models
Joseph M Hoolachan, Eve McCallion, Emma R Sutton, Özge Çetin, Paloma Pacheco-Torres, Maria Dimitriadi, Suat Sari, Gavin J Miller, Magnus Okoh, Lisa M Walter, Peter Claus, Matthew J A Wood, Daniel P Tonge, Melissa Bowerman
Hum Mol Genet. 2024 Mar 1; 33(5): 400–425. Published online 2023 Nov 8. doi: 10.1093/hmg/ddad192
PMCID:
PMC10877467
AbstractArticlePDF–3.9M
12.
Mitigating aberrant Cdk5 activation alleviates mitochondrial defects and motor neuron disease symptoms in spinal muscular atrophy
Nimrod Miller, Zhaofa Xu, Katharina A. Quinlan, Amy Ji, Jered V. McGivern, Zhihua Feng, Han Shi, Chien-Ping Ko, Li-Huei Tsai, Charles J. Heckman, Allison D. Ebert, Yongchao C. Ma
Proc Natl Acad Sci U S A. 2023 Nov 21; 120(47): e2300308120. Published online 2023 Nov 17. doi: 10.1073/pnas.2300308120
PMCID:
PMC10666147
AbstractArticlePDF–3.9M
13.
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
AbstractArticlePDF–6.3M
14.
Serotonergic dysfunction impairs locomotor coordination in spinal muscular atrophy
Nicolas Delestrée, Evangelia Semizoglou, John G Pagiazitis, Aleksandra Vukojicic, Estelle Drobac, Vasilissa Paushkin, George Z Mentis
Brain. 2023 Nov; 146(11): 4574–4593. Published online 2023 Sep 7. doi: 10.1093/brain/awad221
PMCID:
PMC10629775
AbstractArticlePDF–1.5M
15.
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
AbstractArticlePDF–3.3M
16.
AAV9-mediated SMN gene therapy rescues cardiac desmin but not lamin A/C and elastin dysregulation in Smn2B/− spinal muscular atrophy mice
Sharon J Brown, Darija Šoltić, Silvia A Synowsky, Sally L Shirran, Ellie Chilcott, Hannah K Shorrock, Thomas H Gillingwater, Rafael J Yáñez-Muñoz, Bernard Schneider, Melissa Bowerman, Heidi R Fuller
Hum Mol Genet. 2023 Oct 15; 32(20): 2950–2965. Published online 2023 Jul 27. doi: 10.1093/hmg/ddad121
PMCID:
PMC10549791
AbstractArticlePDF–1.9M
17.
Cerebellar structural, astrocytic, and neuronal abnormalities in the SMNΔ7 mouse model of spinal muscular atrophy
Nicholas C. Cottam, Tiffany Bamfo, Melissa A. Harrington, Christine J. Charvet, Khan Hekmatyar, Nikita Tulin, Jianli Sun
Brain Pathol. 2023 Sep; 33(5): e13162. Published online 2023 May 22. doi: 10.1111/bpa.13162
PMCID:
PMC10467044
AbstractArticlePDF–5.3M
18.
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
AbstractArticlePDF–4.5M
19.
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
20.
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

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