Familial intrahepatic cholestasis (FIC) comprises a group of rare cholestatic liver diseases
associated with canalicular transport defects resulting predominantly from mutations in …

Spinal muscular atrophy (SMA) is an autosomal recessive motor neuron disease with a high
incidence and is the most common genetic cause of infant mortality. SMA is primarily …

Pre-mRNA splicing is a key controller of human gene expression. Disturbances in splicing
due to mutation lead to dysregulated protein expression and contribute to a substantial …

Familial dysautonomia (FD) is a currently untreatable, neurodegenerative disease caused
by a splicing mutation (c. 2204+ 6T> C) that causes skipping of exon 20 of the elongator …

Cystic fibrosis (CF), the most common life‐threatening genetic disease in Caucasians, is
caused by∼ 2,000 different mutations in the CF transmembrane conductance regulator …

Modified U1 snRNAs bound to intronic sequences downstream of the 5′ splice site correct
exon skipping caused by different types of mutations. Here we evaluate the therapeutic …

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 …

Introduction: The well-defined genetic causes and monogenetic nature of many
neuromuscular disorders, including Duchenne muscular dystrophy (DMD) and spinal …

Abstract Spinal Muscular Atrophy results from loss-of-function mutations in SMN1 but
correcting aberrant splicing of SMN2 offers hope of a cure. However, current splice therapy …

Spinal muscular atrophy (SMA) and amyotrophic lateral sclerosis (ALS) are severe nervous
system diseases characterized by the degeneration of lower motor neurons. They share a …