SFARI | SFARI Research Highlights

Cell-type-specific effects of loss of autophagy in the striatum

David Sulzer and colleagues used conditional knockout mice of Atg7, a protein involved in autophagy, to study the effects of loss of autophagy on the structure and function of striatal spiny projection neurons, as well as on behaviors relevant to ASD.

Genetic mutations linked to Kleefstra syndrome converge on similar neuronal hyperactivity phenotypes

Nael Nadif Kasri and colleagues used micro-electrode array assays to demonstrate common neuronal network phenotypes associated with genes underlying Kleefstra spectrum syndrome.

Autism spectrum disorder risk assessment through quantification of sperm mosaicism

Joseph Gleeson and colleagues used deep whole-genome sequencing and genotyping of sperm DNA to stratify ASD risk in offspring due to de novo mutation.

Neural encoding of social signals in mice

Ofer Yizhar and colleagues described the altered dynamics of social representation in neurons of the medial prefrontal cortex of Cntnap2-null mice, a model of autism spectrum disorder.

Neuroimmune mechanisms in autism mouse models

Gloria Choi, Jun Huh and colleagues showed that postnatal administration of IL-17a can rescue some of the anatomical and behavioral deficits observed in a maternal immune activation (MIA) mouse model of autism spectrum disorder.

Noise hypersensitivity in PTCHD1-associated ASD

Michael Halassa, Guoping Feng and colleagues identified a combinatorial strategy to reverse noise hypersensitivity in Ptchd1 knockout mice, while Stephen Scherer, James Ellis and colleagues separately explored the genetic and functional complexity of PTCHD1 in humans.

Autism spectrum disorder and attention deficit hyperactivity disorder have a similar profile of rare mutations

Mark Daly and colleagues used an exome sequencing data set of ASD and ADHD to identify a similar profile of rare protein-truncating variants in each disorder.

T-lymphocytes target astrocytes in the postmortem autism brain

A study from Matthew Anderson and colleagues identified an excess of T-lymphocytes in the postmortem ASD brain, which are prominently associated with astrocytes.