TUBA1A mutations in cerebral cortical dysplasia

The cerebral cortex is essential for higher cognitive functions, and its structural and functional integrity relies on the precise regulation of microtubule proteins in neuronal proliferation, differentiation, axonal and dendritic growth, migration, and connectivity. The TUBA1A gene, encoding alpha-tubulin, is highly expressed during fetal brain development and is crucial for cortical maturation. Research has linked mutations in the TUBA1A gene to malformations of cortical development (MCDs), but the specific types of MCDs caused by these mutations and the underlying molecular mechanisms are not fully understood. This review compiles current research findings on the development of the cerebral cortex, the role of microtubules in cortical development, and existing studies on the TUBA1A gene. It aims to elucidate how TUBA1A regulates microtubules to influence brain development, providing key insights into the gene's role in neural development.