CORDIS Project
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This project investigates the role of microRNAs in myotonic dystrophy type 1 (DM1), a genetic disorder caused by CTG repeat expansion. By analyzing miRNA expression and their regulatory mechanisms, the research aims to identify potential therapeutic targets for DM1.
Expansion of a non-coding CTG tract in the DMPK gene leads to myotonic dystrophy type 1 (DM1), a dominant autosomal condition clinically characterized by myotonia, muscle waste and heart conduction defects among other symptoms.
Transcripts containing long CUG stretches are toxic to the cell by their ability to interfere with gene expression regulation at several levels.
Chief molecular alterations are sequestration of MBNL1 and upregulation of CUG-BP1, both alternative splicing regulators, leadi…
VALENTIA BIOPHARMA SL
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