A Drosophila Su(H) Model of Adams-Oliver Syndrome Reveals Notch Cofactor Titration as a Mechanism Underlying Developmental Defects
Ellen K. Gagliani, Lisa M. Gutzwiller, Yi Kuang, Yoshinobu Odaka, Phillipp Hoffmeister, Stefanie Hauff, Aleksandra Turkiewicz, Emily Rose Harding-Theobald, Patrick J. Dolph, Tilman Borggrefe, Franz Oswald, Brian A. Gebelein, Rhett A. Kovall
This study uses a Drosophila Su(H) model to show that AOS-linked RBPJ variants cause developmental defects by sequestering Notch cofactors, leading to dysregulated target gene expression.
PLoS Genetics · Aug 11, 2022Peer-reviewedGenetics