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 …

Alternative RNA splicing is a process by which introns are removed and exons are
assembled to construct different RNA transcript isoforms from a single pre-mRNA. Previous …

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 …

It is now widely accepted that aberrant splicing of constitutive exons is often caused by
mutations affecting cis-acting splicing regulatory elements (SREs), but there is a …

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 …

Familial dysautonomia (FD) is a rare genetic disease with no treatment, caused by an
intronic point mutation (c. 2204+ 6T> C) that negatively affects the definition of exon 20 in the …

The pathogenic significance of nucleotide variants commonly relies on nucleotide position
within the gene, with exonic changes generally attributed to quantitative or qualitative …

Splicing of pre-mRNA is a crucial regulatory stage in the pathway of gene expression. The
majority of human genes that encode proteins undergo alternative pre-mRNA splicing and …

Mutations in the CDKL5 gene lead to an incurable rare neurological condition characterized
by the onset of seizures in the first weeks of life and severe intellectual disability …

Alternative splicing of pre-mRNA contributes strongly to the diversity of cell-and tissue-
specific protein expression patterns. Global transcriptome analyses have suggested that> …