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RAN Translation in Myotonic Dystrophy Type 2
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Zu et al. show that the DM2 CCTG•CAGG expansion mutation produces sense and antisense poly-(LPAC) and poly-(QAGR) RAN proteins. Nuclear sequestration of CCUG transcripts by MBNL1 reduces poly-(LPAC) RAN proteins, and sequestration failure leads upregulation of RAN proteins.
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