A multiplex human pluripotent stem cell platform defines molecular and functional subclasses of autism-related genes.
Molecular Mechanisms
N-terminal variant Asp14Asn of the human p70 S6 Kinase 1 enhances translational signaling causing different effects in developing and mature neuronal cells.
Identification of neural oscillations and epileptiform changes in human brain organoids.
BAF subunit switching regulates chromatin accessibility to control cell cycle exit in the developing mammalian cortex.
Distinct, dosage-sensitive requirements for the autism-associated factor CHD8 during cortical development.
Assessing how the autism risk gene ASXL3 regulates cortical neuronal fate
Stephanie Bielas plans to study an Asxl3 null mouse model to better understand the role that Asxl3-dependent deubiquitination activity plays in specifying neural progenitor cell transcriptional programs that regulate cortical neuronal fate.
Effects of early geometric confinement on the transcriptomic profile of human cerebral organoids.
Understanding and reversing large protein underproduction in fragile X–associated conditions
Mutations in the FMR1 gene, which encodes the RNA-binding protein FMRP, are the most common cause of intellectual disability and autism spectrum disorder. In the current project, Ethan Greenblatt plans to leverage the genetically and biochemically tractable Drosophila oocyte system to understand the mechanism of FMRP-dependent translation. Such knowledge will help advance the development of novel diagnostics and therapies for ASD subtypes that are caused by haploinsufficiency of FMRP or downstream targets.
PsychENCODE and beyond: Transcriptomics and epigenomics of brain development and organoids.
Maternal immune activation in mice disrupts proteostasis in the fetal brain.
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