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Article Dans Une Revue Cell Stress Année : 2020

Role of RNA Binding Proteins with prion-like domains in muscle and neuromuscular diseases

Résumé

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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Dates et versions

inserm-03376301 , version 1 (13-10-2021)

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Gina Picchiarelli, Luc Dupuis. Role of RNA Binding Proteins with prion-like domains in muscle and neuromuscular diseases. Cell Stress, 2020, 4 (4), pp.76-91. ⟨10.15698/cst2020.04.217⟩. ⟨inserm-03376301⟩
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