Genomics, convergent neuroscience and progress in understanding autism spectrum disorder

HR Willsey, AJ Willsey, B Wang… - Nature Reviews …, 2022 - nature.com
More than a hundred genes have been identified that, when disrupted, impart large risk for
autism spectrum disorder (ASD). Current knowledge about the encoded proteins—although …

Autism spectrum disorders: etiology and pathology

AK Sauer, J Stanton, S Hans… - Exon Publications, 2021 - exonpublications.com
Autism spectrum disorders (ASD) are a group of neurodevelopmental diseases. The cause
of ASD is unknown, but several genetic and non-genetic risk factors have been …

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 …

SHANK proteins: roles at the synapse and in autism spectrum disorder

P Monteiro, G Feng - Nature Reviews Neuroscience, 2017 - nature.com
Several large-scale genomic studies have supported an association between cases of
autism spectrum disorder and mutations in the genes SH3 and multiple ankyrin repeat …

Advancing the understanding of autism disease mechanisms through genetics

L de la Torre-Ubieta, H Won, JL Stein… - Nature medicine, 2016 - nature.com
Progress in understanding the genetic etiology of autism spectrum disorders (ASD) has
fueled remarkable advances in our understanding of its potential neurobiological …

Excitatory/inhibitory balance and circuit homeostasis in autism spectrum disorders

SB Nelson, V Valakh - Neuron, 2015 - cell.com
Autism spectrum disorders (ASDs) and related neurological disorders are associated with
mutations in many genes affecting the ratio between neuronal excitation and inhibition …

From the genetic architecture to synaptic plasticity in autism spectrum disorder

T Bourgeron - Nature Reviews Neuroscience, 2015 - nature.com
Genetics studies of autism spectrum disorder (ASD) have identified several risk genes that
are key regulators of synaptic plasticity. Indeed, many of the risk genes that have been …

Synaptopathology involved in autism spectrum disorder

S Guang, N Pang, X Deng, L Yang, F He… - Frontiers in cellular …, 2018 - frontiersin.org
Autism spectrum disorder (ASD) encompasses a group of multifactorial neurodevelopmental
disorders characterized by impaired social communication, social interaction and repetitive …

Genomic patterns of de novo mutation in simplex autism

TN Turner, BP Coe, DE Dickel, K Hoekzema… - Cell, 2017 - cell.com
To further our understanding of the genetic etiology of autism, we generated and analyzed
genome sequence data from 516 idiopathic autism families (2,064 individuals). This …

Prenatal interleukin 6 elevation increases glutamatergic synapse density and disrupts hippocampal connectivity in offspring

F Mirabella, G Desiato, S Mancinelli, G Fossati… - Immunity, 2021 - cell.com
Early prenatal inflammatory conditions are thought to be a risk factor for different
neurodevelopmental disorders. Maternal interleukin-6 (IL-6) elevation during pregnancy …