CORDIS Project
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This project explores the role of N6-methyladenosine (m6A) modifications in RNA metabolism related to myotonic dystrophy type 1, a genetic disorder affecting muscle function. It aims to identify how altered m6A regulation impacts RNA function and muscle physiology, potentially leading to new therapeutic strategies.
RNA metabolism is regulated by multiple post-transcriptional layers, primarily orchestrated by RNA-binding proteins (RBPs).
When disrupted these processes can lead to diseases like myotonic dystrophy type 1 (DM1), a rare inherited disorder affecting skeletal muscle. DM1 is caused by an expansion of trinucleotides in the DMPK gene, leading to accumulation of RNA foci and deregulation of RNA metabolism.
The mutation was identified in 1992 but aspects of its pathophysiology are not understood and t…
INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE
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France, Paris
Type: University / higher education
Activity type: Higher or Secondary Education Establishments
SME: No
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