SFARI | Topic: Molecular Mechanisms

The human-specific BOLA2 duplication modifies iron homeostasis and anemia predisposition in chromosome 16p11.2 autism individuals.

Genome-wide DNA methylation profiling identifies convergent molecular signatures associated with idiopathic and syndromic autism in post-mortem human brain tissue.

Building phenotypic maps based on neuronal activity and transcriptional profiles in human cell models of syndromic forms of ASD

Nael Nadif Kasri will assess differences in neuronal network activity and transcriptional profiles in neural cells derived from induced pluripotent stem cells from individuals with syndromic forms of ASD, building a phenotypic map based on network activity and cellular profiles. These phenotypic maps will aid in the dissection of the underlying cellular and molecular mechanisms involved in distinct forms of ASD.

Transcriptional regulation during brain development and in autism

Genomic and transcriptomic studies implicate fetal cerebral cortex transcriptional dysregulation in ASD, but the implicated regulatory elements, their target genes and their role in development remain unclear. Flora Vaccarino will use cortical organoids derived from individuals with ASD to investigate whether transcriptional dysregulation of specific cell types during early development represents a convergent pathophysiology in ASD.

In the line-up: Deleted genes associated with DiGeorge/22q11.2 deletion syndrome: Are they all suspects?

Ketamine disinhibits dendrites and enhances calcium signals in prefrontal dendritic spines.

Histone 4 lysine 20 methylation: A case for neurodevelopmental disease.

Mitochondrial dysfunction leads to cortical under-connectivity and cognitive impairment.

Human gut microbiota from autism spectrum disorder promote behavioral symptoms in mice.

Brain organoids: Advances, applications and challenges.