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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 …
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 …
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
Genes involved in synaptic function are enriched among those with autism spectrum
disorder (ASD)-associated rare genetic variants. Dysregulated cortical neurogenesis has …
disorder (ASD)-associated rare genetic variants. Dysregulated cortical neurogenesis has …
Spine dynamics in the brain, mental disorders and artificial neural networks
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 …
Unlike their artificial intelligence counterparts, spines are not merely tuneable memory …
O-GlcNAcylation modulates liquid–liquid phase separation of SynGAP/PSD-95
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 …
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 …
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 …
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 …
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 …
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
Protein O-glycosylation is widely identified in various proteins involved in diverse biological
processes. Recent studies have demonstrated that O-glycosylation plays crucial and …
processes. Recent studies have demonstrated that O-glycosylation plays crucial and …