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Genes 2017, 8(6), 157;

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

Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON M5G 1M1, Canada
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)
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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

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

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