Article

CAG repeat expansions create splicing acceptor sites and produce aberrant repeat-containing RNAs

2023-10-16

Abstract excerpt

Expansions of CAG trinucleotide repeats cause several rare neurodegenerative diseases. The disease-causing repeats are translated in multiple reading frames, without an identifiable initiation codon. The molecular mechanism of this repeat-associated non-AUG (RAN) translation is not known. We find that expanded CAG repeats create new splice acceptor sites. Splicing of proximal donors to the repeats produces unexpec...

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Identifiers and source

Literature Corpus work: 73196b3f-4924-54fe-b818-daeaa820762f
DOI: 10.1101/2023.10.16.562581

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