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 …

The tubulin code and its role in controlling microtubule properties and functions

C Janke, MM Magiera - Nature Reviews Molecular Cell Biology, 2020 - nature.com
Microtubules are core components of the eukaryotic cytoskeleton with essential roles in cell
division, shaping, motility and intracellular transport. Despite their functional heterogeneity …

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 …

Anterior cingulate cortex dysfunction underlies social deficits in Shank3 mutant mice

B Guo, J Chen, Q Chen, K Ren, D Feng, H Mao… - Nature …, 2019 - nature.com
Social deficit is a core clinical feature of autism spectrum disorder (ASD) but the underlying
neural mechanisms remain largely unclear. We demonstrate that structural and functional …

Developmental timing and critical windows for the treatment of psychiatric disorders

O Marín - Nature medicine, 2016 - nature.com
There is a growing understanding that pathological genetic variation and environmental
insults during sensitive periods in brain development have long-term consequences on …

Mechanisms of long non-coding RNAs in mammalian nervous system development, plasticity, disease, and evolution

JA Briggs, EJ Wolvetang, JS Mattick, JL Rinn, G Barry - Neuron, 2015 - cell.com
Only relatively recently has it become clear that mammalian genomes encode tens of
thousands of long non-coding RNAs (lncRNAs). A striking 40% of these are expressed …

Autism spectrum disorder genetics and the search for pathological mechanisms

DS Manoli, MW State - American Journal of Psychiatry, 2021 - Am Psychiatric Assoc
Recent progress in the identification of genes and genomic regions contributing to autism
spectrum disorder (ASD) has had a broad impact on our understanding of the nature of …

Altered mGluR5-Homer scaffolds and corticostriatal connectivity in a Shank3 complete knockout model of autism

X Wang, AL Bey, BM Katz, A Badea, N Kim… - Nature …, 2016 - nature.com
Human neuroimaging studies suggest that aberrant neural connectivity underlies
behavioural deficits in autism spectrum disorders (ASDs), but the molecular and neural …

Parallel in vivo analysis of large-effect autism genes implicates cortical neurogenesis and estrogen in risk and resilience

HR Willsey, CRT Exner, Y Xu, A Everitt, N Sun, B Wang… - Neuron, 2021 - cell.com
Gene Ontology analyses of autism spectrum disorders (ASD) risk genes have repeatedly
highlighted synaptic function and transcriptional regulation as key points of convergence …

Striatal circuits as a common node for autism pathophysiology

MV Fuccillo - Frontiers in neuroscience, 2016 - frontiersin.org
Autism spectrum disorders (ASD) are characterized by two seemingly unrelated symptom
domains—deficits in social interactions and restrictive, repetitive patterns of behavioral …