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

IF 4.1 Q2 CELL BIOLOGY

Cell Stress Pub Date : 2020-03-10 DOI:10.15698/cst2020.04.217

Gina Picchiarelli, Luc Dupuis

引用次数: 33

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.

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带有朊病毒样结构域的RNA结合蛋白在肌肉和神经肌肉疾病中的作用。

许多神经肌肉和肌肉疾病，包括肌萎缩性侧索硬化症(ALS)、脊髓性肌萎缩症(SMA)和几种肌病，都与相关rna结合蛋白(rbp)的突变有关，包括TDP-43、FUS、MATR3或hnRNPA1/B2。这些蛋白质具有类似的模块化初级序列，具有RNA结合基序和低复杂性结构域，使它们能够分相分离并创建液体微结构域。这些rbp已被证明对RNA生命周期的多个事件，包括转录事件、剪接和RNA运输和封存起着关键的调节作用。在这里，我们回顾了这些疾病相关的rbp在肌肉和运动神经元中的作用，以及它们在这些细胞类型中的功能障碍如何导致疾病。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Cell Stress Biochemistry, Genetics and Molecular Biology-Biochemistry, Genetics and Molecular Biology (miscellaneous)

CiteScore

13.50

自引率

0.00%

发文量

审稿时长

15 weeks

期刊介绍： Cell Stress is an open-access, peer-reviewed journal that is dedicated to publishing highly relevant research in the field of cellular pathology. The journal focuses on advancing our understanding of the molecular, mechanistic, phenotypic, and other critical aspects that underpin cellular dysfunction and disease. It specifically aims to foster cell biology research that is applicable to a range of significant human diseases, including neurodegenerative disorders, myopathies, mitochondriopathies, infectious diseases, cancer, and pathological aging. The scope of Cell Stress is broad, welcoming submissions that represent a spectrum of research from fundamental to translational and clinical studies. The journal is a valuable resource for scientists, educators, and policymakers worldwide, as well as for any individual with an interest in cellular pathology. It serves as a platform for the dissemination of research findings that are instrumental in the investigation, classification, diagnosis, and therapeutic management of major diseases. By being open-access, Cell Stress ensures that its content is freely available to a global audience, thereby promoting international scientific collaboration and accelerating the exchange of knowledge within the research community.