Gain-of-function p.F28S variant in RAC3 disrupts neuronal differentiation, migration and axonogenesis during cortical development, leading to neurodevelopmental disorder

Conclusion
Our results indicate that RAC3 is critical for brain development and the p.F28S variant causes morphological and functional defects in cortical neurons, likely due to the hyperactivation of PAK1.

Source: Journal of Medical Genetics - February 23, 2023 Category: Genetics & Stem Cells Authors: Nishikawa, M., Scala, M., Umair, M., Ito, H., Waqas, A., Striano, P., Zara, F., Costain, G., Capra, V., Nagata, K.-i. Tags: Neurogenetics Source Type: research