Mar Álvarez

The paper demonstrates that splice-switching antisense oligonucleotides (SSOs) targeting the downstream splice acceptor site of a microexon can modulate microexon inclusion and restore protein levels of ASD risk genes.

This paper generates a partially humanized mouse model of PKU with the c.1066-11G>A PAH variant, showing splicing defects, metabolic imbalances, and neurological phenotypes.