C. Gontan

Maturation-dependent splicing alterations constrain SYNGAP1 splice-switching therapy

Using neural differentiation of human induced pluripotent stem cells, it is shown that the A3SS transcript is abundant in neural progenitors, astrocytes, microglia and immature neurons, with minimal presence in mature neurons, implying that SSOs targeting A3SS might lack therapeutic efficacy to rescue the neuronal phen...