Next Article in Journal
Genome-Wide Identification and Characterization of Salinity Stress-Responsive miRNAs in Wild Emmer Wheat (Triticum turgidum ssp. dicoccoides)
Next Article in Special Issue
The Role of Replication-Associated Repair Factors on R-Loops
Previous Article in Journal
Fine Mapping and Transcriptome Analysis Reveal Candidate Genes Associated with Hybrid Lethality in Cabbage (Brassica Oleracea)
Previous Article in Special Issue
R Loops in the Regulation of Antibody Gene Diversification
Article Menu
Issue 6 (June) cover image

Export Article

Open AccessReview
Genes 2017, 8(6), 157; doi:10.3390/genes8060157

Ataxin-2: From RNA Control to Human Health and Disease

1
Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON M5G 1M1, Canada
2
Canada Research Chairs Program, Faculty of Medicine, University of Toronto, 1 King’s College Circle, Toronto, ON M5S 1A8, Canada
These authors contribute equally to this work.
*
Author to whom correspondence should be addressed.
Academic Editor: Frédéric Chédin
Received: 1 March 2017 / Revised: 23 May 2017 / Accepted: 31 May 2017 / Published: 5 June 2017
(This article belongs to the Special Issue R-loop Biology in Eukaryotes)
View Full-Text   |   Download PDF [1244 KB, uploaded 5 June 2017]   |  

Abstract

RNA-binding proteins play fundamental roles in the regulation of molecular processes critical to cellular and organismal homeostasis. Recent studies have identified the RNA-binding protein Ataxin-2 as a genetic determinant or risk factor for various diseases including spinocerebellar ataxia type II (SCA2) and amyotrophic lateral sclerosis (ALS), amongst others. Here, we first discuss the increasingly wide-ranging molecular functions of Ataxin-2, from the regulation of RNA stability and translation to the repression of deleterious accumulation of the RNA-DNA hybrid-harbouring R-loop structures. We also highlight the broader physiological roles of Ataxin-2 such as in the regulation of cellular metabolism and circadian rhythms. Finally, we discuss insight from clinically focused studies to shed light on the impact of molecular and physiological roles of Ataxin-2 in various human diseases. We anticipate that deciphering the fundamental functions of Ataxin-2 will uncover unique approaches to help cure or control debilitating and lethal human diseases. View Full-Text
Keywords: RNA metabolism; RNA-DNA hybrids; stress granules; ALS; SCA2 RNA metabolism; RNA-DNA hybrids; stress granules; ALS; SCA2
Figures

Figure 1

This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. (CC BY 4.0).

Scifeed alert for new publications

Never miss any articles matching your research from any publisher
  • Get alerts for new papers matching your research
  • Find out the new papers from selected authors
  • Updated daily for 49'000+ journals and 6000+ publishers
  • Define your Scifeed now

SciFeed Share & Cite This Article

MDPI and ACS Style

Ostrowski, L.A.; Hall, A.C.; Mekhail, K. Ataxin-2: From RNA Control to Human Health and Disease. Genes 2017, 8, 157.

Show more citation formats Show less citations formats

Note that from the first issue of 2016, MDPI journals use article numbers instead of page numbers. See further details here.

Related Articles

Article Metrics

Article Access Statistics

1

Comments

[Return to top]
Genes EISSN 2073-4425 Published by MDPI AG, Basel, Switzerland RSS E-Mail Table of Contents Alert
Back to Top