Role of RNA Binding Proteins with prion-like domains in muscle and neuromuscular diseases.
| Autor: | Picchiarelli G; Université de Strasbourg, INSERM, Mécanismes Centraux et Périphériques de la Neurodégénérescence, UMR_S 1118, Strasbourg, France., Dupuis L; Université de Strasbourg, INSERM, Mécanismes Centraux et Périphériques de la Neurodégénérescence, UMR_S 1118, Strasbourg, France. |
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| Jazyk: | angličtina |
| Zdroj: | Cell stress [Cell Stress] 2020 Mar 10; Vol. 4 (4), pp. 76-91. Date of Electronic Publication: 2020 Mar 10. |
| DOI: | 10.15698/cst2020.04.217 |
| Abstrakt: | A number of neuromuscular and muscular diseases, including amyotrophic lateral sclerosis (ALS), spinal muscular atrophy (SMA) and several myopathies, are associated to mutations in related RNA-binding proteins (RBPs), including TDP-43, FUS, MATR3 or hnRNPA1/B2. These proteins harbor similar modular primary sequence with RNA binding motifs and low complexity domains, that enables them to phase separate and create liquid microdomains. These RBPs have been shown to critically regulate multiple events of RNA lifecycle, including transcriptional events, splicing and RNA trafficking and sequestration. Here, we review the roles of these disease-related RBPs in muscle and motor neurons, and how their dysfunction in these cell types might contribute to disease. Competing Interests: Conflict of interest: The authors declare no conflict of interest. (Copyright: © 2020 Picchiarelli and Dupuis.) |
| Databáze: | MEDLINE |
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