Investigating the cellular and molecular mechanisms of MAST1 mutations in cortical malformation
Agnes Dwi Ariyanti, Meng-Han Tsai, Penny Ou, Haw-Yuan Cheng, Jin-Wu Tsai · FENS Forum 2024
Development of the cerebral cortex involves many phases, including neural stem cell proliferation, neuronal migration, and differentiation. Defects in these phases lead to malformations in cortical development (MCDs). For example, disruption in neuronal migration causes lissencephaly, a form of MCD characterized by a smooth brain surface. Mutations in a number of genes, such as PAFAH1B1 (aka LIS1), DCX, TUBA1A, ARX, and DYNC1H1, are common causes behind lissencephaly. Many of those genes are involved in microtubule assembly and stabilization during neuronal migration. Recently, mutations in MA
ePoster · Neuroscience