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A Dimeric 2,9‐Diamino‐1,10‐phenanthroline Derivative Improves Alternative Splicing in Myotonic Dystrophy Type 1 Cell and Mouse Models

10 Oct 2018

Abstract excerpt

Abstract Expanded r(CUG) repeats are the cause of the neurological disorder myotonic dystrophy type 1 (DM1). The pathological features of DM1 include the formation of ribonuclear foci containing expanded r(CUG) repeats, which sequester the MBNL1 protein and lead to the misregulation of alternative pre‐mRNA splicing. Small molecules that bind to the r(CUG) repeats and improve alternative splicing have therapeutic...

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PMID: 30302858
DOI: 10.1002/chem.201804368

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