The role of UBE3A in the autism and epilepsy-related Dup15q syndrome using patient-derived, CRISPR-corrected neurons
Marwa Elamin, Aurelie Dumarchey, Christopher E. Stoddard, Tiwanna M. Robinson, Christopher Cowie, Dea Gorka, Stormy J. Chamberlain, Eric S. Levine
This study investigates the role of UBE3A in Dup15q syndrome using CRISPR-corrected patient-derived neurons, showing UBE3A overexpression is necessary for most neuronal deficits but not synaptic phenotypes.
Stem Cell Reports · Mar 9, 2023Peer-reviewedNeuroscience