SFARI | Topic: Molecular Mechanisms

Evaluating molecular changes in the brain of Chd8 mutant mice as a function of age

Mark Zylka plans to evaluate the extent to which molecular phenotypes worsen with age in Chd8^V986*/+heterozygous mice, which harbor a loss-of-function autism-linked mutation. Results from this study are expected to highlight the importance of expanding the age range over which autism model mice are evaluated, with the ultimate aim of better understanding neuropathological changes in older individuals with ASD.

16p11.2 microdeletion imparts transcriptional alterations in human iPSC-derived models of early neural development.

Microexons: At the nexus of nervous system development, behaviour and autism spectrum disorder.

Cas9 gene therapy for Angelman syndrome traps Ube3a-ATS long non-coding RNA.

A configurable model of the synaptic proteome reveals the molecular mechanisms of disease co-morbidity.

High-throughput single-cell functional elucidation of neurodevelopmental disease-associated genes reveals convergent mechanisms altering neuronal differentiation.

Neural stem cells direct axon guidance via their radial fiber scaffold.

Exponential-family embedding with application to cell developmental trajectories for single-cell RNA-seq data.

De novo missense variants disrupting protein-protein interactions affect risk for autism through gene co-expression and protein networks in neuronal cell types.

Inflammation of the embryonic choroid plexus barrier following maternal immune activation.