Deciphering novel TCF4-driven mechanisms underlying a common triplet repeat expansion-mediated disease
Nihar Bhattacharyya, Niuzheng Chai, Nathaniel J. Hafford‐Tear, Amanda N. Sadan, Anita Szabó, Christina Zarouchlioti, Jana Jedličková, Szi Kay Leung, Tianyi Liao, Ľubica Ďuďáková, Pavlína Skalická, Mohit Parekh, Ismail Moghul, Aaron R. Jeffries, Michael E. Cheetham, , Alice E. Davidson
This study identifies two pathogenic mechanisms, RNA toxicity and TCF4 isoform dysregulation, in Fuchs endothelial corneal dystrophy using patient-derived corneal endothelial cells and multi-omics analyses.
PLoS Genetics · May 7, 2024Peer-reviewedMolecular Biology