Congenital heart defects in Down syndrome are caused by increased dosage of DYRK1A
Eva Lana‐Elola, Rifdat Aoidi, Miriam Llorian, Dorota Gibbins, Callan L Buechsenschuetz, Claudio Bussi, Helen R. Flynn, Tegan Gilmore, Sheona Watson-Scales, Marie Haugsten Hansen, Darryl Hayward, Ok‐Ryul Song, Véronique Brault, Yann Hérault, Emmanuel Deau, , Victor L. J. Tybulewicz
The paper shows increased DYRK1A dosage causes mitochondrial dysfunction and congenital heart defects in Down syndrome, which can be mitigated by a DYRK1A inhibitor.
bioRxiv · Sep 18, 2023 · PreprintDevelopmental Biology