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

Masashi NishikawaMarcello ScalaMuhammad UmairHidenori ItoAhmed WaqasPasquale StrianoFederico ZaraGregory CostainValeria CapraKoh-Ichi Nagata

Published in: Journal of medical genetics (2022)

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.

Keyphrases

spinal cord
cerebral ischemia
multiple sclerosis
resting state
brain injury
subarachnoid hemorrhage