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DMPK transcripts with CUG expansion and MBNL bound. MBNL1 proteins are attracted to the DMPK transcripts CUG expansion due to the weak pairing of U–U, resulting in MBNL depletion from the nucleoplasm and lack of functional DMPK in the cytoplasm. CELF1 is overexpressed in DM1 tissues and regulates most of the splicing processes undergone in the nucleus, which causes the expression of embryonic variants that lead to a spliceopathy. Created with Biorender.com.
