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 …

Proximity analysis of native proteomes reveals phenotypic modifiers in a mouse model of autism and related neurodevelopmental conditions

Y Gao, D Shonai, M Trn, J Zhao, EJ Soderblom… - Nature …, 2024 - nature.com
One of the main drivers of autism spectrum disorder is risk alleles within hundreds of genes,
which may interact within shared but unknown protein complexes. Here we develop a …

A 10-Year Review on Advancements in Identifying and Treating Intellectual Disability Caused by Genetic Variations

K Hou, X Zheng - Genes, 2024 - search.proquest.com
Intellectual disability (ID) is a prevalent neurodevelopmental disorder characterized by
neurodevelopmental defects such as the congenital impairment of intellectual function and …

[PDF][PDF] Context-dependent hyperactivity in syngap1a and syngap1b zebrafish models of SYNGAP1-related disorder

SH Sumathipala, S Khan, RA Kozol, Y Araki… - Frontiers in molecular …, 2024 - frontiersin.org
Context-dependent hyperactivity in syngap1a and syngap1b zebrafish models of SYNGAP1-related
disorder Page 1 Frontiers in Molecular Neuroscience 01 frontiersin.org Context-dependent …

[HTML][HTML] Context-dependent hyperactivity in syngap1a and syngap1b zebrafish autism models

SH Sumathipala, S Khan, RA Kozol, Y Araki, S Syed… - bioRxiv, 2023 - ncbi.nlm.nih.gov
Methods: We used CRISPR/Cas9 to introduce frameshift mutations in the syngap1a and
syngap1b zebrafish duplicates (syngap1ab) and validated these stable models for Syngap1 …

Phenotype and genotype analyses of Chinese patients with autosomal dominant mental retardation type 5 caused by SYNGAP1 gene mutations

Y Wang, Y Lv, Z Li, M Gao, X Yang, Y Li, J Shi… - Frontiers in …, 2022 - frontiersin.org
Background: Autosomal dominant mental retardation type 5 (MRD5), a rare
neurodevelopmental disorder (NDD) characterized by intellectual disability (ID) …

Shifting rules in a brain disorder

D Choquet - Science, 2024 - science.org
The synaptic Ras/Rap guanosine triphosphatase (GTPase)–activating protein (SynGAP)
plays substantial, albeit still elusive, roles in synaptic function. SynGAP has attracted …

Proximity analysis of native proteomes reveals Interactomes predictive of phenotypic modifiers of autism and related neurodevelopmental conditions

Y Gao, M Trn, D Shonai, J Zhao, EJ Soderblom… - BioRxiv, 2022 - biorxiv.org
One of the main drivers of autism spectrum disorder is risk alleles within hundreds of genes,
which may interact within shared but unknown protein complexes. Here we develop a …

Syngap1 regulates cortical circuit assembly by controlling membrane excitability

V Arora, S Michaelson, M Aceti, M Kilinic, C Miller… - BioRxiv, 2022 - biorxiv.org
Gene expression intersects with neural activity to produce cortical circuits during brain
development. However, the cell biological mechanisms linking gene expression to activity …

Proteomics and weighted gene correlated network analysis reveal glutamatergic synapse signaling in diazepam treatment of alcohol withdrawal

W Kong, S Huang, Z Chen, X Li, S Liu… - Frontiers in …, 2023 - frontiersin.org
Background: Alcohol use disorder (AUD) is characterized by chronic excessive alcohol
consumption, often alternating with periods of abstinence known as alcohol withdrawal …