Ataxin-2: From RNA Control to Human Health and Disease
AbstractRNA-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
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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.
Ostrowski LA, Hall AC, Mekhail K. Ataxin-2: From RNA Control to Human Health and Disease. Genes. 2017; 8(6):157.Chicago/Turabian Style
Ostrowski, Lauren A.; Hall, Amanda C.; Mekhail, Karim. 2017. "Ataxin-2: From RNA Control to Human Health and Disease." Genes 8, no. 6: 157.
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