Alternative splicing of pre-mRNA increases genetic diversity, and recent studies estimate
that most human multiexon genes are alternatively spliced. If this process is not highly …

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 …

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 …

Alternative splicing accounts for a considerable portion of transcriptomic diversity, as most
protein-coding genes are spliced into multiple mRNA isoforms. However, errors in splicing …

Removal of introns by pre-mRNA splicing is fundamental to gene function in eukaryotes.
However, understanding the mechanism by which exon-intron boundaries are defined …

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 principle of hydrodynamic delivery was initially used to develop a method for the
delivery of plasmids into mouse hepatocytes through tail vein injection and has been …

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 …

The ability of variants of the spliceosomal U1snRNA to rescue splicing has been proven in
several human disease models, but not for nucleotide changes at the conserved GT …