Skip to Main content Skip to Navigation
Journal articles

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

Abstract : 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.
Document type :
Journal articles
Complete list of metadata

https://www.hal.inserm.fr/inserm-03376301
Contributor : Stéphane Dieterle Connect in order to contact the contributor
Submitted on : Wednesday, October 13, 2021 - 2:00:28 PM
Last modification on : Wednesday, November 3, 2021 - 6:29:43 AM

File

2020A-Picchiarelli-Cell-Stress...
Publication funded by an institution

Identifiers

Collections

Citation

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

Share

Metrics

Record views

5

Files downloads

20