Activity-dependent neuronal signalling and autism spectrum disorder

DH Ebert, ME Greenberg - Nature, 2013 - nature.com
Neuronal activity induces the post-translational modification of synaptic molecules, promotes
localized protein synthesis within dendrites and activates gene transcription, thereby …

Synaptic, transcriptional and chromatin genes disrupted in autism

S De Rubeis, X He, AP Goldberg, CS Poultney… - Nature, 2014 - nature.com
The genetic architecture of autism spectrum disorder involves the interplay of common and
rare variants and their impact on hundreds of genes. Using exome sequencing, here we …

Lessons learned from studying syndromic autism spectrum disorders

Y Sztainberg, HY Zoghbi - Nature neuroscience, 2016 - nature.com
Syndromic autism spectrum disorders represent a group of childhood neurological
conditions, typically associated with chromosomal abnormalities or mutations in a single …

Progress toward treatments for synaptic defects in autism

R Delorme, E Ey, R Toro, M Leboyer, C Gillberg… - Nature medicine, 2013 - nature.com
Autism spectrum disorder (ASD) encompasses a range of disorders that are characterized
by social and communication deficits and repetitive behaviors. For the majority of affected …

Autism genes converge on asynchronous development of shared neuron classes

B Paulsen, S Velasco, AJ Kedaigle, M Pigoni… - Nature, 2022 - nature.com
Genetic risk for autism spectrum disorder (ASD) is associated with hundreds of genes
spanning a wide range of biological functions,,,,–. The alterations in the human brain …

Autism: highly heritable but not inherited

AL Beaudet - Nature Medicine, 2007 - nature.com
Autism: highly heritable but not inherited | Nature Medicine Skip to main content Thank you for
visiting nature.com. You are using a browser version with limited support for CSS. To obtain the …

Genetic modules for autism

B LaFlamme - Nature Genetics, 2015 - nature.com
Autism spectrum disorder (ASD) is genetically heterogeneous, with most ASD-associated
variants accounting for very few cases. Michael Snyder and colleagues used a systems …

Two-year-olds with autism orient to non-social contingencies rather than biological motion

A Klin, DJ Lin, P Gorrindo, G Ramsay, W Jones - Nature, 2009 - nature.com
Typically developing human infants preferentially attend to biological motion within the first
days of life. This ability is highly conserved across species, and is believed to be critical for …

Genome-wide changes in lncRNA, splicing, and regional gene expression patterns in autism

NN Parikshak, V Swarup, TG Belgard, M Irimia… - Nature, 2016 - nature.com
Autism spectrum disorder (ASD) involves substantial genetic contributions. These
contributions are profoundly heterogeneous but may converge on common pathways that …

Autism gene Ube3a and seizures impair sociability by repressing VTA Cbln1

V Krishnan, DC Stoppel, Y Nong, MA Johnson… - Nature, 2017 - nature.com
Abstract Maternally inherited 15q11-13 chromosomal triplications cause a frequent and
highly penetrant type of autism linked to increased gene dosages of UBE3A, which encodes …