SFARI | SFARI Research Highlights

Shank3 mutation R1117X affects interneuron function

Alex Kwan and colleagues used in vivo calcium imaging to show that a mutation in Shank3 associated with schizophrenia affects the activity of inhibitory neurons in the cortex, ultimately leading to enhanced activity of excitatory neurons and altered behavior in mice.

C. elegans screen for ASD risk gene–associated phenotypes

Catharine Rankin, Kurt Haas, Paul Pavlidis and colleagues used machine vision to find that mutations linked to ASD risk genes are associated with changes in habituation of response probability in C. elegans

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.