NIH R01 · 2025
Unique Role of ASPM in Development of Large and Folded Cerebral Cortex
PROJECT SUMMARY/ABSTRACT Neurodevelopmental disorders affecting the large and folded (gyrencephalic) human cerebral cortex require disease mechanisms that are robust in humans but insignificant in mice. For example, loss of ASPM (assembly factor for spindle microtubules) in humans causes severe microcephaly with 50-75% reduction in cortical volume, simplified gyri, epilepsy, and intellectual disability. In contrast, Aspm KO mice show <10% reduction. ASPM encodes a conserved centrosomal protein that regulates progenitor proliferation, delamination, and differentiation. Thus, it is unclear how loss of a neurodevelopmental gene such as ASPM causes remarkably severe phenotypes in the large,…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.