Adaptor protein 2 sigma subunit (AP2S1) variants associated with neurodevelopmental disorders
Mark Stevenson, Asha L. Bayliss, Victoria J. Stokes, Katherine A. English, Kreepa G. Kooblall, Roman Fischer, Raphael Heilig, Iolanda Vendrell, Maria E. W. A. Albers, Meghan N. Bartos, Amber Hogart Begtrup, Alexia Bourgois, Rebecca Buchert, David J. Carey, Deanna Alexis Carere, , Rajesh V. Thakker
The paper identifies AP2S1 variants linked to neurodevelopmental disorders by showing they impair clathrin-mediated endocytosis and disrupt protein interactions.
medRxiv · Jul 22, 2024 · PreprintGenetic & Genomic Medicine