One of the most amazing findings in molecular biology was the discovery that eukaryotic
genes are discontinuous, with coding DNA being interrupted by stretches of non-coding …

Background Major efforts have been made in the last decade to develop and improve
therapies for proximal spinal muscular atrophy (SMA). The introduction of …

Spinal muscular atrophy (SMA), an autosomal recessive neuromuscular disease, is the
leading monogenic cause of infant mortality. Homozygous loss of the gene survival of motor …

Abstract The U12-dependent (minor) spliceosome excises a rare group of introns that are
characterized by a highly conserved 5′ splice site and branch point sequence. Several …

Neuronal function critically depends on coordinated subcellular distribution of mRNAs.
Disturbed mRNA processing and axonal transport has been found in spinal muscular …

Spinal muscular atrophy (SMA), the leading genetic cause of infant mortality, is
characterized by the degeneration of spinal motor neurons and muscle atrophy. Although …

Altered RNA metabolism is a key pathophysiological component causing several
neurodegenerative diseases. Genetic mutations causing neurodegeneration occur in coding …

The accurate biogenesis of RNA–protein complexes is a key aspect of eukaryotic cells.
Defects in Sm protein complex binding to snRNAs are known to reduce levels of snRNAs …

Background Spinal muscular atrophy (SMA) is a devastating neuromuscular disease caused
by hypomorphic loss of function in the survival motor neuron (SMN) protein. SMA presents …

The biogenesis of small nuclear ribonucleoproteins (snRNPs), small Cajal body-specific
RNPs (scaRNPs), small nucleolar RNPs (snoRNPs) and the telomerase RNP involves Cajal …