Under construction
Selected relevant publications:
Regulating PCCA gene expression by modulation of pseudoexon splicing patterns to rescue enzyme activity in propionic acidemia Petersen et al., Molecular Therapy Nucleic Acids, Dec 2023
Pseudoexon activation in disease by non-splice site deep intronic sequence variation — wild type pseudoexons constitute high-risk sites in the human genome Petersen et al., Human Mutation, Nov 2021
Global identification of hnRNP A1 binding sites for SSO-based splicing modulation Bruun et al., BMC Biology, Jul 2016
Splice-shifting oligonucleotide (SSO) mediated blocking of an exonic splicing enhancer (ESE) created by the prevalent c.903+469T>C MTRR mutation corrects splicing and restores enzyme activity in patient cells Palhais et al., Nucleic Acids Research, May 2015