Keimpe Wierda

Abstract Brain disorders caused by large effect mutations in single genes often present unexplained large symptom diversity, even among carriers of the same mutation. Here we examined genetic interactions as a possible explanation for this diversity for SNAREopathies, a group of common neurodevelopmental disorders caused by de novo genetic variation in genes that together drive secretion of chemical signals in the brain.

Abstract Connecting neurons into functional circuits requires the formation, maturation, and plasticity of synapses. While advances have been made in identifying individual genes regulating synapse development, the molecular programs orchestrating their action during circuit integration of neurons remain poorly understood.

Keywords synapse organelle postsynaptic development dendritic spine spine apparatus ER-PM contact sites GPCR receptor signaling AMPA receptor phospholipase Get full text access Log in, subscribe or purchase for full access. References 1. O’Rourke, N.A. ∙ Weiler, N.C. ∙ Micheva, K.D. ... Deep molecular diversity of mammalian synapses: Why it matters and how to measure it Nat. Rev. Neurosci. 2012; 13:365-379 2. Emes, R.D. ∙ Grant, S.G.N. Evolution of Synapse Complexity and Diversity Annu. Rev. Neurosci.