Molecular BiologyMolecular Therapy — Nucleic AcidsPeer-reviewed
Regulating PCCA gene expression by modulation of pseudoexon splicing patterns to rescue enzyme activity in propionic acidemia
Ulrika Simone Spangsberg Petersen, Maja Dembić, Ainhoa Martínez‐Pizarro…·Brage Storstein Andresen
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.
16 citations