期刊
ANNUAL REVIEW OF NEUROSCIENCE, VOL 42
卷 42, 期 -, 页码 227-+出版社
ANNUAL REVIEWS
DOI: 10.1146/annurev-neuro-070918-050405
关键词
translation; microsatellite repeat diseases; RAN translation; toxicity; mechanism; therapy
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.
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