In recent years, the RNA molecule became one of the most promising targets for therapeutic
intervention. Currently, a large number of RNA-based therapeutics are being investigated …

Spinal muscular atrophy (SMA) is a primary genetic cause of infant mortality due to
mutations in the Survival Motor Neuron (SMN) 1 gene. No cure is available. Antisense …

Background The ability of the spliceosomal small nuclear RNA U1 (U1snRNA) to rescue pre‐
mRNA splicing impaired by mutations makes it an attractive therapeutic molecule …

Solid lipid nanoparticles (SLNs) consisting of tristearin or tribehenin, and monoolein
aqueous dispersions (MADs) consisting of glyceryl-monoolein have been studied as …

Although they are rare in the population, rare neurodevelopmental disorders (RNDDs)
constitute a significant portion of all rare diseases. While advancements in sequencing …

Mutations affecting specific splicing regulatory elements offer suitable models to better
understand their interplay and to devise therapeutic strategies. Here we characterize a …

In cellular models we have demonstrated that a unique U1snRNA targeting an intronic
region downstream of a defective exon (Exon-specific U1snRNA, ExSpeU1) can rescue …

Coagulation factor V (FV) deficiency is a rare autosomal recessive bleeding disorder. We
investigated a patient with severe FV deficiency (FV: C< 3%) and moderate bleeding …

The c. 2101 A> G synonymous change (p. G674G) in the gene for ATR, a key player in the
DNA-damage response, has been the first identified genetic cause of Seckel Syndrome …

Antisense molecules are emerging as a powerful tool to correct splicing defects. Recently,
we identified a homozygous deep-intronic mutation (F5 c. 1296+ 268A> G) activating a …