RAN Translation in Myotonic Dystrophy Type 2

3,534 views · Published 13 September 2017 · 6:01 · Indexed 10 November 2026

Channel: Cell Press · 2017 · Science & Technology

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For more information, see Zu et al., Neuron 95/6, http://www.cell.com/neuron/fulltext/S0896-6273(17)30782-1.

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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