Motor Neuron Center

Displaying 1 - 50 of 56CSV
Simon, C. M., Delestrée, N., Montes, J., Sowoidnich, L., Gerstner, F., Carranza, E., Buettner, J. M., Pagiazitis, J. G., Prat-Ortega, G., Ensel, S., Donadio, S., Dreilich, V., Carlini, M. J., Garcia, J. L., Kratimenos, P., Chung, W. K., Sumner, C. J., Weimer, L. H., Pirondini, E., … Mentis, G. Z. (2025). Proprioceptive synaptic dysfunction is a key feature in mice and humans with spinal muscular atrophy. Brain. https://doi.org/10.1093/brain/awaf074
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Sharan, K., Brandt, C., Yusuf, M. A., Singh, P., Halder, N., Edwards, M. E., Mangu, S. R., Das, A., Mishra, A., Kumar, S. S., Sharma, A., Gupta, A., Liu, X. S., Guo, E. X., Monani, U. R., Ponnalagu, D., Ivanov, I. I., Lal, G., Clare, S., … Yadav, V. K. (2025). Rapid and relaying deleterious effects of a gastrointestinal pathogen, Citrobacter rodentium, on bone, an extra-intestinal organ. IScience, 28(2), 111802. https://doi.org/10.1016/j.isci.2025.111802
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Verde, E. M., Antoniani, F., Mediani, L., Secco, V., Crotti, S., Ferrara, M. C., Vinet, J., Sergeeva, A., Yan, X., Hoege, C., Stuani, C., Paron, F., Kao, T.-T., Shrivastava, R., Polanowska, J., Bailly, A., Rosa, A., Aronica, E., Goswami, A., … Carra, S. (2025). SUMO2/3 conjugation of TDP-43 protects against aggregation. Science Advances, 11(8). https://doi.org/10.1126/sciadv.adq2475
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Prat-Ortega, G., Ensel, S., Donadio, S., Borda, L., Boos, A., Yadav, P., Verma, N., Ho, J., Carranza, E., Frazier-Kim, S., Fields, D. P., Fisher, L. E., Weber, D. J., Balzer, J., Duong, T., Weinstein, S. D., Eliasson, M. J. L., Montes, J., Chen, K. S., … Capogrosso, M. (2025). First-in-human study of epidural spinal cord stimulation in individuals with spinal muscular atrophy. Nature Medicine. https://doi.org/10.1038/s41591-024-03484-8
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Moens, T. G., Da Cruz, S., Neumann, M., Shelkovnikova, T. A., Shneider, N. A., & Van Den Bosch, L. (2025). Amyotrophic lateral sclerosis caused by FUS mutations: advances with broad implications. The Lancet Neurology, 24(2), 166–178. https://doi.org/10.1016/s1474-4422(24)00517-9
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Elyaman, W., Stern, L. J., Jiang, N., Dressman, D., Bradley, P., Klatzmann, D., Bradshaw, E. M., Farber, D. L., Kent, S. C., Chizari, S., Funk, K., Devanand, D., Thakur, K. T., Raj, T., Dalahmah, O. A., Sarkis, R. A., Weiner, H. L., Shneider, N. A., & Przedborski, S. (2025). Exploring the role of T cells in Alzheimer’s and other neurodegenerative diseases: Emerging therapeutic insights from the T Cells in the Brain symposium. Alzheimer’s & Dementia. Portico. https://doi.org/10.1002/alz.14548
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Delgado-Chaves, F. M., Jennings, M. J., Atalaia, A., Wolff, J., Horvath, R., Mamdouh, Z. M., Baumbach, J., & Baumbach, L. (2025). Transforming literature screening: The emerging role of large language models in systematic reviews. Proceedings of the National Academy of Sciences, 122(2). https://doi.org/10.1073/pnas.2411962122
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Rifai, O. M., Waldron, F. M., Sleibi, D., O’Shaughnessy, J., Leighton, D. J., & Gregory, J. M. (2024). Clinicopathological analysis of NEK1 variants in amyotrophic lateral sclerosis. Brain Pathology, 35(1). Portico. https://doi.org/10.1111/bpa.13287
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Lee, J. C., Chung, W. K., Pisapia, D. J., & Henderson, C. E. (2024). Motor pool selectivity of neuromuscular degeneration in type I spinal muscular atrophy is conserved between human and mouse. Human Molecular Genetics. https://doi.org/10.1093/hmg/ddae190
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Elhussein, A., Baymuradov, U., Phatnani, H., Kwan, J., Sareen, D., Broach, J. R., Simmons, Z., Arcila-Londono, X., Lee, E. B., Van Deerlin, V. M., Shneider, N. A., Fraenkel, E., Ostrow, L. W., Baas, F., Zaitlen, N., Berry, J. D., Malaspina, A., Fratta, P., … Gürsoy, G. (2024). A framework for sharing of clinical and genetic data for precision medicine applications. Nature Medicine, 30(12), 3578–3589. https://doi.org/10.1038/s41591-024-03239-5
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Takeda, T., Her, Y.-R., Kim, J.-K., Jha, N. N., & Monani, U. R. (2025). A variant of the Hspa8 synaptic chaperone modifies disease in a SOD1G86R mouse model of amyotrophic lateral sclerosis. Experimental Neurology, 383, 115024. https://doi.org/10.1016/j.expneurol.2024.115024
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Utkina-Sosunova, I., Chiorazzi, A., de Planell-Saguer, M., Li, H., Meregalli, C., Pozzi, E., Carozzi, V. A., Canta, A., Monza, L., Alberti, P., Fumagalli, G., Karan, C., Moayedi, Y., Przedborski, S., Cavaletti, G., & Lotti, F. (2024). Molsidomine provides neuroprotection against vincristine-induced peripheral neurotoxicity through soluble guanylyl cyclase activation. Scientific Reports, 14(1). https://doi.org/10.1038/s41598-024-70294-w
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Karasu, M. E., Jahnke, L., Joseph, B. J., Amerzhanova, Y., Mironov, A., Shu, X., Schröder, M. S., Gvozdenovic, A., Sala, I., Zavolan, M., Jonas, S., & Corn, J. E. (2024). CCAR1 promotes DNA repair via alternative splicing. Molecular Cell, 84(14), 2634-2647.e9. https://doi.org/10.1016/j.molcel.2024.06.011
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Pottinger, T. D., Motelow, J. E., Povysil, G., Moreno, C. A. M., Ren, Z., Phatnani, H., Harms, M. B., Kwan, J., Sareen, D., Wang, H.-I., Broach, J. R., Simmons, Z., Arcila-Londono, X., Parrott, S., Lee, E. B., Parrott, S., Deerlin, V. M. V., Fraenkel, E., … Ostrow, L. W. (2024). Rare variant analyses validate known ALS genes in a multi-ethnic population and identifies ANTXR2 as a candidate in PLS. BMC Genomics, 25(1). https://doi.org/10.1186/s12864-024-10538-1
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Carlini, M. J., Van Alstyne, M., Yang, H., Yadav, S., Shneider, N. A., & Pellizzoni, L. (2024). Stasimon/Tmem41b is required for cell proliferation and adult mouse survival. Biochemical and Biophysical Research Communications, 712–713, 149923. https://doi.org/10.1016/j.bbrc.2024.149923
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Spence, H., Waldron, F. M., Saleeb, R. S., Brown, A.-L., Rifai, O. M., Gilodi, M., Read, F., Roberts, K., Milne, G., Wilkinson, D., O’Shaughnessy, J., Pastore, A., Fratta, P., Shneider, N., Tartaglia, G. G., Zacco, E., Horrocks, M. H., & Gregory, J. M. (2024). RNA aptamer reveals nuclear TDP-43 pathology is an early aggregation event that coincides with STMN-2 cryptic splicing and precedes clinical manifestation in ALS. Acta Neuropathologica, 147(1). https://doi.org/10.1007/s00401-024-02705-1
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Kumbier, K., Roth, M., Li, Z., Lazzari-Dean, J., Waters, C., Hammerlindl, S., Rinaldi, C., Huang, P., Korobeynikov, V. A., Phatnani, H., Shneider, N., Jacobson, M. P., Wu, L. F., & Altschuler, S. J. (2024). Identifying FUS amyotrophic lateral sclerosis disease signatures in patient dermal fibroblasts. Developmental Cell. https://doi.org/10.1016/j.devcel.2024.05.011
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Riboldi, G. M., Faravelli, I., Rinchetti, P., & Lotti, F. (2023). SMN post-translational modifications in spinal muscular atrophy. Frontiers in Cellular Neuroscience, 17. https://doi.org/10.3389/fncel.2023.1092488
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Suazo, K. F., Mishra, V., Maity, S., Auger, S. A., Justyna, K., Petre, A. M., Ottoboni, L., Ongaro, J., Corti, S. P., Lotti, F., Przedborski, S., & Distefano, M. D. (2024). Improved synthesis and application of an alkyne-functionalized isoprenoid analogue to study the prenylomes of motor neurons, astrocytes and their stem cell progenitors. Bioorganic Chemistry, 147, 107365. https://doi.org/10.1016/j.bioorg.2024.107365
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Dermentzaki, G., Furlan, M., Tanaka, I., Leonardi, T., Rinchetti, P., Passos, P. M. S., Bastos, A., Ayala, Y. M., Hanna, J. H., Przedborski, S., Bonanomi, D., Pelizzola, M., & Lotti, F. (2024). Depletion of Mettl3 in cholinergic neurons causes adult-onset neuromuscular degeneration. Cell Reports, 43(4), 113999. https://doi.org/10.1016/j.celrep.2024.113999
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Feng, H., Lu, X.-J., Maji, S., Liu, L., Ustianenko, D., Rudnick, N. D., & Zhang, C. (2024). Structure-based prediction and characterization of photo-crosslinking in native protein–RNA complexes. Nature Communications, 15(1). https://doi.org/10.1038/s41467-024-46429-y
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Butt, T. H., Tobiume, M., Re, D. B., & Kariya, S. (2024). Physical Exercise Counteracts Aging-Associated White Matter Demyelination Causing Cognitive Decline. Aging and Disease, 0. https://doi.org/10.14336/ad.2024.0216
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Lumpkin, C. J., Harris, A. W., Connell, A. J., Kirk, R. W., Whiting, J. A., Saieva, L., Pellizzoni, L., Burghes, A. H. M., & Butchbach, M. E. R. (2023). Evaluation of the orally bioavailable 4-phenylbutyrate-tethered trichostatin A analogue AR42 in models of spinal muscular atrophy. Scientific Reports, 13(1). https://doi.org/10.1038/s41598-023-37496-0
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Nuzzo, T., Russo, R., Errico, F., D’Amico, A., Tewelde, A. G., Valletta, M., Hassan, A., Tosi, M., Panicucci, C., Bruno, C., Bertini, E., Chambery, A., Pellizzoni, L., & Usiello, A. (2023). Nusinersen mitigates neuroinflammation in severe spinal muscular atrophy patients. Communications Medicine, 3(1). https://doi.org/10.1038/s43856-023-00256-2
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Delestrée, N., Semizoglou, E., Pagiazitis, J. G., Vukojicic, A., Drobac, E., Paushkin, V., & Mentis, G. Z. (2023). Serotonergic dysfunction impairs locomotor coordination in spinal muscular atrophy. Brain, 146(11), 4574–4593. https://doi.org/10.1093/brain/awad221
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Dorrity, T. J., Shin, H., Wiegand, K. A., Aruda, J., Closser, M., Jung, E., Gertie, J. A., Leone, A., Polfer, R., Culbertson, B., Yu, L., Wu, C., Ito, T., Huang, Y., Steckelberg, A.-L., Wichterle, H., & Chung, H. (2023). Long 3′UTRs predispose neurons to inflammation by promoting immunostimulatory double-stranded RNA formation. Science Immunology, 8(88). https://doi.org/10.1126/sciimmunol.adg2979
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Zheng, C., Wei, Y., Zhang, Q., Sun, M., Wang, Y., Hou, J., Zhang, P., Lv, X., Su, D., Jiang, Y., Gumin, J., Sahni, N., Hu, B., Wang, W., Chen, X., McGrail, D. J., Zhang, C., Huang, S., Xu, H., … Chen, Y. (2023). Multiomics analyses reveal DARS1-AS1 /YBX1–controlled posttranscriptional circuits promoting glioblastoma tumorigenesis/radioresistance. Science Advances, 9(31). https://doi.org/10.1126/sciadv.adf3984
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Comfort, N., Gade, M., Strait, M., Merwin, S. J., Antoniou, D., Parodi, C., Marcinczyk, L., Jean‐Francois, L., Bloomquist, T. R., Memou, A., Rideout, H. J., Corti, S., Kariya, S., & Re, D. B. (2023). Longitudinal transcriptomic analysis of mouse sciatic nerve reveals pathways associated with age‐related muscle pathology. Journal of Cachexia, Sarcopenia and Muscle, 14(3), 1322–1336. Portico. https://doi.org/10.1002/jcsm.13204
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Monfrini, E., Arienti, F., Rinchetti, P., Lotti, F., & Riboldi, G. M. (2023). Brain Calcifications: Genetic, Molecular, and Clinical Aspects. International Journal of Molecular Sciences, 24(10), 8995. https://doi.org/10.3390/ijms24108995
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Ong, H. W., Liang, Y., Richardson, W., Lowry, E. R., Wells, C. I., Chen, X., Silvestre, M., Dempster, K., Silvaroli, J. A., Smith, J. L., Wichterle, H., Pabla, N. S., Ultanir, S. K., Bullock, A. N., Drewry, D. H., & Axtman, A. D. (2023). Discovery of a Potent and Selective CDKL5/GSK3 Chemical Probe That Is Neuroprotective. ACS Chemical Neuroscience, 14(9), 1672–1685. https://doi.org/10.1021/acschemneuro.3c00135
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Traunmüller, L., Schulz, J., Ortiz, R., Feng, H., Furlanis, E., Gomez, A. M., Schreiner, D., Bischofberger, J., Zhang, C., & Scheiffele, P. (2023). A cell-type-specific alternative splicing regulator shapes synapse properties in a trans-synaptic manner. Cell Reports, 42(3), 112173. https://doi.org/10.1016/j.celrep.2023.112173
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Faravelli, I., Riboldi, G. M., Rinchetti, P., & Lotti, F. (2023). The SMN Complex at the Crossroad between RNA Metabolism and Neurodegeneration. International Journal of Molecular Sciences, 24(3), 2247. https://doi.org/10.3390/ijms24032247
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Šušnjar, U., Škrabar, N., Brown, A.-L., Abbassi, Y., Phatnani, H., Phatnani, H., Fratta, P., Kwan, J., Sareen, D., Broach, J. R., Simmons, Z., Arcila-Londono, X., Lee, E. B., Van Deerlin, V. M., Shneider, N. A., Fraenkel, E., Ostrow, L. W., Baas, F., … Buratti, E. (2022). Cell environment shapes TDP-43 function with implications in neuronal and muscle disease. Communications Biology, 5(1). https://doi.org/10.1038/s42003-022-03253-8
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Pandit, K., Petrescu, J., Cuevas, M., Stephenson, W., Smibert, P., Phatnani, H., & Maniatis, S. (2022). An open source toolkit for repurposing Illumina sequencing systems as versatile fluidics and imaging platforms. Scientific Reports, 12(1). https://doi.org/10.1038/s41598-022-08740-w
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Chen, L., Roake, C. M., Maccallini, P., Bavasso, F., Dehghannasiri, R., Santonicola, P., Mendoza-Ferreira, N., Scatolini, L., Rizzuti, L., Esposito, A., Gallotta, I., Francia, S., Cacchione, S., Galati, A., Palumbo, V., Kobin, M. A., Tartaglia, G. G., Colantoni, A., Proietti, G., … Raffa, G. D. (2022). TGS1 impacts snRNA 3′-end processing, ameliorates survival motor neuron-dependent neurological phenotypes in vivo and prevents neurodegeneration. Nucleic Acids Research, 50(21), 12400–12424. https://doi.org/10.1093/nar/gkac659
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de Nooij, J. C. (2022). MS and GTO proprioceptor subtypes in the molecular genetic era: Opportunities for new advances and perspectives. Current Opinion in Neurobiology, 76, 102597. https://doi.org/10.1016/j.conb.2022.102597
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Errico, F., Marino, C., Grimaldi, M., Nuzzo, T., Bassareo, V., Valsecchi, V., Panicucci, C., Di Schiavi, E., Mazza, T., Bruno, C., D’Amico, A., Carta, M., D’Ursi, A. M., Bertini, E., Pellizzoni, L., & Usiello, A. (2022). Nusinersen Induces Disease-Severity-Specific Neurometabolic Effects in Spinal Muscular Atrophy. Biomolecules, 12(10), 1431. https://doi.org/10.3390/biom12101431
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Tisdale, S., Van Alstyne, M., Simon, C. M., Mentis, G. Z., & Pellizzoni, L. (2022). SMN controls neuromuscular junction integrity through U7 snRNP. Cell Reports, 40(12), 111393. https://doi.org/10.1016/j.celrep.2022.111393
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Carlini, M. J., Triplett, M. K., & Pellizzoni, L. (2022). Neuromuscular denervation and deafferentation but not motor neuron death are disease features in the Smn2B/- mouse model of SMA. PLOS ONE, 17(8), e0267990. https://doi.org/10.1371/journal.pone.0267990
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Campisi, L., Chizari, S., Ho, J. S. Y., Gromova, A., Arnold, F. J., Mosca, L., Mei, X., Fstkchyan, Y., Torre, D., Beharry, C., Garcia-Forn, M., Jiménez-Alcázar, M., Korobeynikov, V. A., Prazich, J., Fayad, Z. A., Seldin, M. M., De Rubeis, S., Bennett, C. L., Ostrow, L. W., … Marazzi, I. (2022). Clonally expanded CD8 T cells characterize amyotrophic lateral sclerosis-4. Nature, 606(7916), 945–952. https://doi.org/10.1038/s41586-022-04844-5
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Pérez-Torres, E. J., Utkina-Sosunova, I., Mishra, V., Barbuti, P., De Planell-Saguer, M., Dermentzaki, G., Geiger, H., Basile, A. O., Robine, N., Fagegaltier, D., Politi, K. A., Rinchetti, P., Jackson-Lewis, V., Harms, M., Phatnani, H., Lotti, F., Przedborski, S., Phatnani, H., … Traynor, B. J. (2022). Retromer dysfunction in amyotrophic lateral sclerosis. Proceedings of the National Academy of Sciences, 119(26). https://doi.org/10.1073/pnas.2118755119
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Brown, A.-L., Wilkins, O. G., Keuss, M. J., Hill, S. E., Zanovello, M., Lee, W. C., Bampton, A., Lee, F. C. Y., Masino, L., Qi, Y. A., Bryce-Smith, S., Gatt, A., Hallegger, M., Fagegaltier, D., Phatnani, H., Phatnani, H., Kwan, J., Sareen, D., … Fratta, P. (2022). TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A. Nature, 603(7899), 131–137. https://doi.org/10.1038/s41586-022-04436-3
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Alkelai, A., Greenbaum, L., Docherty, A. R., Shabalin, A. A., Povysil, G., Malakar, A., Hughes, D., Delaney, S. L., Peabody, E. P., McNamara, J., Gelfman, S., Baugh, E. H., Zoghbi, A. W., Harms, M. B., Hwang, H.-S., Grossman-Jonish, A., Aggarwal, V., Heinzen, E. L., Jobanputra, V., … Goldstein, D. B. (2021). The benefit of diagnostic whole genome sequencing in schizophrenia and other psychotic disorders. Molecular Psychiatry, 27(3), 1435–1447. https://doi.org/10.1038/s41380-021-01383-9
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Chalif, J. I., Martínez-Silva, M. de L., Pagiazitis, J. G., Murray, A. J., & Mentis, G. Z. (2022). Control of mammalian locomotion by ventral spinocerebellar tract neurons. Cell, 185(2), 328-344.e26. https://doi.org/10.1016/j.cell.2021.12.014
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