Lourdes R. Desviat

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.

This study shows that modulating pseudoexon splicing in the PCCA gene with antisense oligonucleotides restores enzyme activity in propionic acidemia by rescuing PCCA and PCCB protein levels.