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FUS ALS-causative mutations impair FUS autoregulation and splicing factor networks through intron retention
Mutations in the RNA-binding protein FUS cause amyotrophic lateral sclerosis (ALS), a devastating neurodegenerative disease. FUS plays a role in numerous aspects of RNA metabolism, including mRNA splicing. However, the impact of ALS-causative mutations on splicing has not been fully characterized, a...
Autores principales: | Humphrey, Jack, Birsa, Nicol, Milioto, Carmelo, McLaughlin, Martha, Ule, Agnieszka M, Robaldo, David, Eberle, Andrea B, Kräuchi, Rahel, Bentham, Matthew, Brown, Anna-Leigh, Jarvis, Seth, Bodo, Cristian, Garone, Maria G, Devoy, Anny, Soraru, Gianni, Rosa, Alessandro, Bozzoni, Irene, Fisher, Elizabeth M C, Mühlemann, Oliver, Schiavo, Giampietro, Ruepp, Marc-David, Isaacs, Adrian M, Plagnol, Vincent, Fratta, Pietro |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7337901/ https://www.ncbi.nlm.nih.gov/pubmed/32479602 http://dx.doi.org/10.1093/nar/gkaa410 |
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