RNA biology of disease-associated microsatellite repeat expansions

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ID: 46922
2017
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Abstract
Abstract Microsatellites, or simple tandem repeat sequences, occur naturally in the human genome and have important roles in genome evolution and function. However, the expansion of microsatellites is associated with over two dozen neurological diseases. A common denominator among the majority of these disorders is the expression of expanded tandem repeat-containing RNA, referred to as xtrRNA in this review, which can mediate molecular disease pathology in multiple ways. This review focuses on the potential impact that simple tandem repeat expansions can have on the biology and metabolism of RNA that contain them and underscores important gaps in understanding. Merging the molecular biology of repeat expansion disorders with the current understanding of RNA biology, including splicing, transcription, transport, turnover and translation, will help clarify mechanisms of disease and improve therapeutic development.
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rohilla2017rnaacta Use this key to autocite in the manuscript while using SciMatic Manuscript Manager or Thesis Manager
Authors Rohilla, Kushal J.;Gagnon, Keith T.;
Journal acta neuropathologica communications
Year 2017
DOI
DOI not found
URL
http://link.springer.com/article/10.1186/s40478-017-0468-y
Keywords
Biotechnology neurology. diseases of the nervous system genetics

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