NIH R01 · 2024
The Contribution of Microglial MEF2C to Brain Development
Summary/Abstract Intellectual disability and autism spectrum disorders are devastating disorders thought to arise from a combination of synaptic dysfunction and altered neural progenitor modulation for which there are no effective treatments. Mutations or deletions in one allele of myocyte enhancer factor 2C (MEF2C) result in MEF2C Haploinsufficiency Syndrome (MHS), a disorder characterized by a severe phenotype with intellectual disability, repetitive motor behaviors, and difficulties with communication and social interaction on the autism spectrum. We have found that MEF2C is highly expressed in human microglia during neurodevelopment and have identified MEF2C as a core transcription…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.