RNA helicases are highly conserved proteins that use nucleoside triphosphates to bind or
remodel RNA, RNA–protein complexes or both. RNA helicases are classified into the DEAD …

Precursor messenger RNA (pre-mRNA) splicing is catalyzed by an intricate
ribonucleoprotein complex called the spliceosome. Although the spliceosome is considered …

Background Lack of functional evidence hampers variant interpretation, leaving a large
proportion of individuals with a suspected Mendelian disorder without genetic diagnosis …

DEAD-box RNA helicases are important regulators of RNA metabolism and have been
implicated in the development of cancer. Interestingly, these helicases constitute a major …

Neurodevelopmental disorders (NDDs) are clinically and genetically heterogenous; many
such disorders are secondary to perturbation in brain development and/or function. The …

In 46, XY men, testis is determined by a genetic network (s) that both promotes testis
formation and represses ovarian development. Disruption of this process results in a lack of …

Alphaviruses are a large group of re-emerging arthropod-borne RNA viruses. The compact
viral RNA genomes harbor diverse structures that facilitate replication. These structures can …

Summary Type I interferons (IFN-I) are essential to establish antiviral innate immunity.
Unanchored (or free) polyubiquitin (poly-Ub) has been shown to regulate IFN-I responses …

Purpose Brain monoamine vesicular transport disease is an infantile-onset movement
disorder that mimics cerebral palsy. In 2013, the homozygous SLC18A2 variant, p …

The spliceosome executes pre-mRNA splicing through four sequential stages: assembly,
activation, catalysis, and disassembly. Activation of the spliceosome, namely remodeling of …