Loss of CTLH component MAEA impairs DNA repair and replication and leads to developmental delay
Soren H. Hough, Satpal S. Jhujh, Samah W. Awwad, Oliver Lewis, Simon Lam, John Christopher Thomas, Thorsten Mosler, Aldo S. Bader, Lauren E. Bartik, Shane A McKee, Shivarajan Manickavasagam Amudhavalli, Estelle Colin, Nadirah S. Damseh, Emma M. Clement, Pilar Cacheiro, , Stephen P. Jackson
The paper identifies MAEA as a critical regulator of DNA repair and replication, with loss of function causing developmental delay and neurodevelopmental deficits.
EMBO Molecular Medicine · Dec 19, 2025Peer-reviewedGenetics