The last few decades have seen an explosion in identification of genes that cause
monogenetic neurological diseases, as well as advances in gene-targeting therapeutics …

The functioning of bioluminescent systems in most of the known marine organisms is based
on the oxidation reaction of the same substrate—coelenterazine (CTZ), catalyzed by …

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 rare neurodegenerative disease caused by a splicing
mutation in elongator acetyltransferase complex subunit 1 (ELP1). This mutation leads to the …

Familial dysautonomia (FD) is an autosomal recessive hereditary sensory and autonomic
neuropathy (HSAN, type 3) expressed at birth with profound sensory loss and early death …

It has been more than 60 years since the discovery of kinetin, the first known member of a
group of plant hormones called cytokinins. In this review we summarize the health …

Highlights•Modulation of pre-mRNA splicing is an effective alternative to the direct targeting
of proteins.•Insight into pre-mRNA splicing biology offers practical targeted strategies to …

Splicing defects caused by mutations in the consensus sequences at the borders of introns
and exons are common in human diseases. Such defects frequently result in a complete …

Familial dysautonomia is a debilitating congenital neurodegenerative disorder with no
causative therapy. It is caused by a homozygous mutation in ELP1 gene, resulting in the …

Familial dysautonomia (FD) is an autosomal recessive neurodegenerative disease caused
by a splicing mutation in the gene encoding Elongator complex protein 1 (ELP1, also known …