Neurodevelopmental disorders: from genetics to functional pathways

I Parenti, LG Rabaneda, H Schoen, G Novarino - Trends in Neurosciences, 2020 - cell.com
Neurodevelopmental disorders (NDDs) are a class of disorders affecting brain development
and function and are characterized by wide genetic and clinical variability. In this review, we …

Synaptic memory and CaMKII

RA Nicoll, H Schulman - Physiological reviews, 2023 - journals.physiology.org
Ca2+/calmodulin-dependent protein kinase II (CaMKII) and long-term potentiation (LTP)
were discovered within a decade of each other and have been inextricably intertwined ever …

Non-synaptic function of the autism spectrum disorder-associated gene SYNGAP1 in cortical neurogenesis

M Birtele, A Del Dosso, T Xu, T Nguyen… - Nature …, 2023 - nature.com
Genes involved in synaptic function are enriched among those with autism spectrum
disorder (ASD)-associated rare genetic variants. Dysregulated cortical neurogenesis has …

Spine dynamics in the brain, mental disorders and artificial neural networks

H Kasai, NE Ziv, H Okazaki, S Yagishita… - Nature Reviews …, 2021 - nature.com
In the brain, most synapses are formed on minute protrusions known as dendritic spines.
Unlike their artificial intelligence counterparts, spines are not merely tuneable memory …

O-GlcNAcylation modulates liquid–liquid phase separation of SynGAP/PSD-95

P Lv, Y Du, C He, L Peng, X Zhou, Y Wan, M Zeng… - Nature Chemistry, 2022 - nature.com
Liquid–liquid phase separation (LLPS) of SynGAP and PSD-95, two abundant proteins that
interact in the postsynaptic density (PSD) of neurons, has been implicated in modulating …

SynGAP regulates synaptic plasticity and cognition independently of its catalytic activity

Y Araki, KE Rajkovich, EE Gerber, TR Gamache… - Science, 2024 - science.org
SynGAP is an abundant synaptic GTPase-activating protein (GAP) critical for synaptic
plasticity, learning, memory, and cognition. Mutations in SYNGAP1 in humans result in …

Antisense oligonucleotides restore excitability, GABA signalling and sodium current density in a Dravet syndrome model

Y Yuan, L Lopez-Santiago, N Denomme, C Chen… - Brain, 2024 - academic.oup.com
Dravet syndrome is an intractable developmental and epileptic encephalopathy caused by
de novo variants in SCN1A resulting in haploinsufficiency of the voltage-gated sodium …

Map** PTBP2 binding in human brain identifies SYNGAP1 as a target for therapeutic splice switching

JM Dawicki-McKenna, AJ Felix, EA Waxman… - Nature …, 2023 - nature.com
Alternative splicing of neuronal genes is controlled partly by the coordinated action of
polypyrimidine tract binding proteins (PTBPs). While PTBP1 is ubiquitously expressed …

[HTML][HTML] SYNGAP1 deficiency disrupts synaptic neoteny in xenotransplanted human cortical neurons in vivo

B Vermaercke, R Iwata, K Wierda, L Boubakar… - Neuron, 2024 - cell.com
Human brain ontogeny is characterized by a considerably prolonged neotenic development
of cortical neurons and circuits. Neoteny is thought to be essential for the acquisition of …

Emerging roles of O-glycosylation in regulating protein aggregation, phase separation, and functions

X Li, Y Du, X Chen, C Liu - Current Opinion in Chemical Biology, 2023 - Elsevier
Protein O-glycosylation is widely identified in various proteins involved in diverse biological
processes. Recent studies have demonstrated that O-glycosylation plays crucial and …