OTC intron 4 variations mediate pathogenic splicing patterns caused by the c.386G>A mutation in humans and spfash mice, and govern susceptibility to RNA-based therapies

The F7 p.Val22Ile missense mutation affects splicing and can be counteracted by a compensatory U1snRNA

A Compensatory U1snRNA Partially Rescues FAH Splicing and Protein Expression in a Splicing-Defective Mouse Model of Tyrosinemia Type I

Rescue of spinal muscular atrophy mouse models with AAV9-Exon-specific U1 snRNA

Exon-specific U1 snRNAs improve ELP1 exon 20 definition and rescue ELP1 protein expression in a familial dysautonomia mouse model

An exon-specific U1snRNA induces a robust factor IX activity in mice expressing multiple human FIX splicing mutants

A unique exon specific U1snRNA rescues different haemophilia B - causing splicing-defective factor IX variants in mice

RNA-based therapeutic approaches for blood coagulation factor deficiencies caused by a splicing mutations

AN EXON-SPECIFIC U1 SMALL NUCLEAR RNA (snRNA) STRATEGY TO CORRECT SPLICING MUTATIONS ASSOCIATED TO HEMOPHILIA B

“Compensatory” aberrant splicing supports residual expression levels in severe coagulation factor VII deficiency

RNA−based therapeutic approaches for blood coagulation factor deficiencies caused by splicing mutations

The complete impairment of factor VII gene expression by the IVS6+1g/t mutation is compatible with a severe but not lethal bleeding disorder

Rescue of coagulation factor VII mRNA processing and protein function by engineered U1+5A snRNA

Molecola di U1snRNA umano modificato, gene codificante per la molecola di U1snRNA umano modificato, vettore di espressione includente il gene, e loro uso in terapia genica

U1-snRNA-mediated rescue of mRNA processing in severe factor VII deficiency