Mis-splicing of Mdm2 leads to increased P53-activity and craniofacial defects in a MFDM Eftud2 mutant mouse model
M.-C. Beauchamp, Anissa Djedid, Eric Bareke, Fjodor Merkuri, Rachel Aber, Annie Tam, Matthew A. Lines, Kym M. Boycott, Peter C. Stirling, Jennifer L. Fish, Jacek Majewski, Loydie Anne Jerome‐Majewska
This study shows that EFTUD2 mutations cause mis-splicing of Mdm2, leading to increased P53 activity and craniofacial defects, which can be mitigated by P53 inhibitors.
bioRxiv · Sep 22, 2020 · PreprintDevelopmental Biology