Calcium/calmodulin-dependent protein kinase II (CAMK2) is one of the first proteins shown
to be essential for normal learning and synaptic plasticity in mice, but its requirement for …

Extensive research has been conducted to gain a deeper understanding of the deregulated
metabolic pathways in the development of trisomy 21 (T21) or Down syndrome. This …

Rhombencephalosynapsis (RES) is a unique cerebellar malformation characterized by
fusion of the cerebellar hemispheres with partial or complete absence of a recognizable …

The transcription factor BCL11B is essential for development of the nervous and the immune
system, and Bcl11b deficiency results in structural brain defects, reduced learning capacity …

Chromatin remodeling is of crucial importance during brain development. Pathogenic
alterations of several chromatin remodeling ATPases have been implicated in …

Truncating variants in exons 33 and 34 of the SNF2-related CREBBP activator protein
(SRCAP) gene cause the neurodevelopmental disorder (NDD) Floating-Harbor syndrome …

DHX30 is a member of the family of DExH-box helicases, which use ATP hydrolysis to
unwind RNA secondary structures. Here we identified six different de novo missense …

Members of a paralogous gene family in which variation in one gene is known to cause
disease are eight times more likely to also be associated with human disease. Recent …

ARGONAUTE-2 and associated miRNAs form the RNA-induced silencing complex (RISC),
which targets mRNAs for translational silencing and degradation as part of the RNA …

p21-activated kinases (PAKs) are serine/threonine protein kinases acting as effectors of
CDC42 and RAC, which are members of the RHO family of small GTPases. PAK1's kinase …