CORDIS Project
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This project investigates how the RBM20 protein regulates the alternative splicing of the titin gene, which is linked to familial dilated cardiomyopathy. By developing a method called TITIN-seq, the project aims to analyze titin isoforms at a single-cell level to uncover potential therapeutic targets for this heart dis…
The sarcomeric protein titin (TTN) is mutated in 30% of patients with familial dilated cardiomyopathy (DCM), a common heart disease that is a global threat to the aging society.
Aberrant alternative splicing of TTN is causally linked to DCM, therefore, to understand mechanisms of TTN splicing is crucial for developing therapeutic options, which so far do not exist for DCM. RBM20, a protein that regulates alternative splicing of TTN, is also mutated in many patients with an aggressive form of DCM…
EUROPEAN MOLECULAR BIOLOGY LABORATORY
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United States, Stanford
Type: University / higher education
Activity type: Higher or Secondary Education Establishments
SME: No
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