Angela M. Cacace

This study transplants FXS patient-derived neurons into mice to study their development and finds FMR1-dependent changes in synaptic activity and morphology.

This study identifies p38 as a regulator of DUX4 expression in FSHD, showing that p38 inhibitors reduce DUX4 and cell death in patient-derived myotubes.

The paper shows that restoring over 5% FMRP expression or 20% FMRP-positive neurons in FXS neurons normalizes hyperactivity.