Article

Characterisation of <i>DMPK</i> and MBNL1 expression in cell models of Myotonic Dystrophy: A platform for drug screening

2025-02-01

Abstract excerpt

Myotonic dystrophy type I (DM1) is caused by CTG repeat expansions in the DMPK gene leading to mRNA toxicity and sequestration of the splicing regulator MBNL1, affecting many tissues. We have developed an in vitro screening platform based on ddPCR and in-cell western to quantify these mRNAs and proteins and characterised more than 20 cell models to define DM1 biomarkers that could be useful for drug screening. D...

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Literature Corpus work: 2d512c80-7fec-5aa1-bd47-4bb0e40c75c5
DOI: 10.1101/2025.01.31.632773

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