GeneticsPLoS GeneticsPeer-reviewed
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…·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.
11 citations