Affiliation:
1. Center for NeuroGenetics, Department of Molecular Genetics and Microbiology, Genetics Institute, and McKnight Brain Institute, College of Medicine, University of Florida, Gainesville, Florida 32610, USA;
Abstract
Microsatellite mutations involving the expansion of tri-, tetra-, penta-, or hexanucleotide repeats cause more than 40 different neurological disorders. Although, traditionally, the position of the repeat within or outside of an open reading frame has been used to focus research on disease mechanisms involving protein loss of function, protein gain of function, or RNA gain of function, the discoveries of bidirectional transcription and repeat-associated non-ATG (RAN) have blurred these distinctions. Here we review what is known about RAN proteins in disease, the mechanisms by which they are produced, and the novel therapeutic opportunities they provide.
Cited by
58 articles.
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