Journal
CELL STRESS
Volume 4, Issue 4, Pages 76-91Publisher
SHARED SCIENCE PUBLISHERS OG
DOI: 10.15698/cst2020.04.217
Keywords
RNA-Binding Protein (RBP); Muscle; Dystrophy; Amyotrophic lateral sclerosis (ALS); Spinal muscular atrophy (SMA); Inclusion body myopathy (IBM); Fragile X-associated tremor / ataxia syndrome (FXTAS); Multisystem proteinopathy (MSP); Huntington's disease
Categories
Funding
- American Amyotrophic Lateral Sclerosis Association (ALSA)
- Association Francaise contre les Myopathies (AFM)
- Association de Recherche sur la Sclerose Laterale Amyotrophique (ARsla)
- Fondation Thierry Latran (HypotALS)
- Fondation pour la recherche medicale [DEQ20180339179]
- agence nationale de la recherche
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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.
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