Josse Poppinga, Nolan J Barrett ... Jan RT van Weering
SNX4 influences synaptic vesicle recruitment at the active zone, linking endosomal sorting to docked vesicle density and modulating neurotransmission efficiency during sustained activity.
Studies with mice and brain organoids models reveals that dysregulation of GTF2IRD1-TTR-ERK pathway significantly contributes to neuronal deficits of Williams syndrome.
Molecular genetics identifies a novel microglial pathway essential for mouse brain development and a previously unknown anti-inflammatory activity of monomeric amyloid β that activates this pathway.