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Wiley Interdiscip Rev RNA. 2010 Jul-Aug;1(1):173-92. doi: 10.1002/wrna.18. Epub 2010 May 25.

Repeat expansion diseases: when a good RNA turns bad.

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  • 1Department of Microbiology, Immunology & Pathology, Colorado State University, Fort Collins, CO 80523, USA.

Abstract

An increasing number of dominantly inherited diseases have now been linked with expansion of short repeats within specific genes. Although some of these expansions affect protein function or result in haploinsufficiency, a significant portion cause pathogenesis through production of toxic RNA molecules that alter cellular metabolism. In this review, we examine the criteria that influence toxicity of these mutant RNAs and discuss new developments in therapeutic approaches.

2010 John Wiley & Sons, Ltd.

PMID:
21956913
[PubMed - indexed for MEDLINE]
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