Structure, function, and pharmacology of glutamate receptor ion channels

KB Hansen, LP Wollmuth, D Bowie, H Furukawa… - Pharmacological …, 2021 - Elsevier
Many physiologic effects of l-glutamate, the major excitatory neurotransmitter in the
mammalian central nervous system, are mediated via signaling by ionotropic glutamate …

The autism spectrum: behavioral, psychiatric and genetic associations

A Genovese, MG Butler - Genes, 2023 - mdpi.com
Autism spectrum disorder (ASD) consists of a group of heterogeneous genetic
neurobehavioral disorders associated with developmental impairments in social …

Rare coding variation provides insight into the genetic architecture and phenotypic context of autism

JM Fu, FK Satterstrom, M Peng, H Brand, RL Collins… - Nature …, 2022 - nature.com
Some individuals with autism spectrum disorder (ASD) carry functional mutations rarely
observed in the general population. We explored the genes disrupted by these variants from …

Genomic architecture of autism from comprehensive whole-genome sequence annotation

B Trost, B Thiruvahindrapuram, AJS Chan… - Cell, 2022 - cell.com
Fully understanding autism spectrum disorder (ASD) genetics requires whole-genome
sequencing (WGS). We present the latest release of the Autism Speaks MSSNG resource …

[HTML][HTML] NMR spectroscopy for metabolomics research

AH Emwas, R Roy, RT McKay, L Tenori, E Saccenti… - Metabolites, 2019 - mdpi.com
Over the past two decades, nuclear magnetic resonance (NMR) has emerged as one of the
three principal analytical techniques used in metabolomics (the other two being gas …

Pathway enrichment analysis and visualization of omics data using g: Profiler, GSEA, Cytoscape and EnrichmentMap

J Reimand, R Isserlin, V Voisin, M Kucera… - Nature protocols, 2019 - nature.com
Pathway enrichment analysis helps researchers gain mechanistic insight into gene lists
generated from genome-scale (omics) experiments. This method identifies biological …

[HTML][HTML] Genetic causes and modifiers of autism spectrum disorder

L Rylaarsdam, A Guemez-Gamboa - Frontiers in cellular …, 2019 - frontiersin.org
Autism Spectrum Disorder (ASD) is one of the most prevalent neurodevelopmental
disorders, affecting an estimated 1 in 59 children. ASD is highly genetically heterogeneous …

The contributions of rare inherited and polygenic risk to ASD in multiplex families

M Cirnigliaro, TS Chang, SA Arteaga… - Proceedings of the …, 2023 - pnas.org
Autism spectrum disorder (ASD) has a complex genetic architecture involving contributions
from both de novo and inherited variation. Few studies have been designed to address the …

An overview of autism spectrum disorder, heterogeneity and treatment options

A Masi, MM DeMayo, N Glozier, AJ Guastella - Neuroscience bulletin, 2017 - Springer
Since the documented observations of Kanner in 1943, there has been great debate about
the diagnoses, the sub-types, and the diagnostic threshold that relates to what is now known …

Microglia and beyond: innate immune cells as regulators of brain development and behavioral function

KM Lenz, LH Nelson - Frontiers in immunology, 2018 - frontiersin.org
Innate immune cells play a well-documented role in the etiology and disease course of
many brain-based conditions, including multiple sclerosis, Alzheimer's disease, traumatic …