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 …

Assessing the mechanisms of brain plasticity by transcranial magnetic stimulation

A Jannati, LM Oberman, A Rotenberg… - …, 2023 - nature.com
Transcranial magnetic stimulation (TMS) is a non-invasive technique for focal brain
stimulation based on electromagnetic induction where a fluctuating magnetic field induces a …

mTOR-related synaptic pathology causes autism spectrum disorder-associated functional hyperconnectivity

M Pagani, N Barsotti, A Bertero, S Trakoshis… - Nature …, 2021 - nature.com
Postmortem studies have revealed increased density of excitatory synapses in the brains of
individuals with autism spectrum disorder (ASD), with a putative link to aberrant mTOR …

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 …

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 …

The indispensable roles of microglia and astrocytes during brain development

K Reemst, SC Noctor, PJ Lucassen… - Frontiers in human …, 2016 - frontiersin.org
Glia are essential for brain functioning during development and in the adult brain. Here, we
discuss the various roles of both microglia and astrocytes, and their interactions during brain …

Hippocampal GABAergic inhibitory interneurons

KA Pelkey, R Chittajallu, MT Craig… - Physiological …, 2017 - journals.physiology.org
In the hippocampus GABAergic local circuit inhibitory interneurons represent only~ 10–15%
of the total neuronal population; however, their remarkable anatomical and physiological …

Automated detection of autism spectrum disorder using a convolutional neural network

Z Sherkatghanad, M Akhondzadeh, S Salari… - Frontiers in …, 2020 - frontiersin.org
Background: Convolutional neural networks (CNN) have enabled significant progress in
speech recognition, image classification, automotive software engineering, and …

[HTML][HTML] Loss of mTOR-dependent macroautophagy causes autistic-like synaptic pruning deficits

G Tang, K Gudsnuk, SH Kuo, ML Cotrina, G Rosoklija… - Neuron, 2014 - cell.com
Developmental alterations of excitatory synapses are implicated in autism spectrum
disorders (ASDs). Here, we report increased dendritic spine density with reduced …

Deficient autophagy in microglia impairs synaptic pruning and causes social behavioral defects

HJ Kim, MH Cho, WH Shim, JK Kim, EY Jeon… - Molecular …, 2017 - nature.com
Autism spectrum disorders (ASDs) are neurodevelopmental disorders caused by various
genetic and environmental factors that result in synaptic abnormalities. ASD development is …