Aberrant Phase Separation of Endothelial MAML1 Causes Congenital Heart Disease by Suppressing Notch Activity

Abstract

BACKGROUND: Congenital heart disease (CHD), the most common birth defect and a leading cause of infant mortality, is frequently linked to dysregulated Notch signaling. However, the role of the Notch transcriptional coactivator Mastermind-like 1 (MAML1) in CHD pathogenesis and the underlying molecular mechanism remain unclear.