Molecular basis of neurodevelopmental disorder-causing mutation in nonsense-mediated mRNA decay factor UPF3B
J. C. Bufton, K. T. Powers, J.-Y. A. Szeto, C. Schaffitzel
This study investigates how a mutation in UPF3B, a NMD factor, causes intellectual disability by reducing its binding affinity to UPF2 and altering NMD activity.
bioRxiv · Apr 3, 2022 · PreprintBiochemistry