Broad transcriptomic dysregulation occurs across the cerebral cortex in ASD.
Molecular Mechanisms
Orgo-Seq integrates single-cell and bulk transcriptomic data to identify cell type specific-driver genes associated with autism spectrum disorder.
Autism NPCs from both idiopathic and CNV 16p11.2 deletion patients exhibit dysregulation of proliferation and mitogenic responses.
RNA sequencing of transformed lymphoblastoid cells from siblings discordant for autism spectrum disorders reveals transcriptomic and functional alterations: Evidence for sex-specific effects.
Cell type-specific assessment of cholesterol distribution in models of neurodevelopmental disorders.
A single-cell trajectory atlas of striatal development.
Rubella virus tropism and single cell responses in human primary tissue and microglia-containing organoids.
In vivo proximity ligation reveals endogenous candidate interactors of neurexin’s intracellular domain.
Functionalizing the autism variome
The list of risk genes for ASD with associated mutations continues to grow at a substantial pace, but for many of these mutations, a basic understanding of the functional impact of the mutations on the encoded proteins is missing. In this project, Marc Vidal and Lilia Iakoucheva plan to functionally characterize a collection of ASD gene variants by assessing the effects of mutations on protein stability and protein-protein interactions. This integrative approach will enable the identification of causative variants and characterization of the functional impact of these variants in the context of brain-expressed isoforms.
Single-cell brain organoid screening identifies developmental defects in autism.
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