Dysregulation of mTOR signalling is a converging mechanism in lissencephaly.

ABSTRACT: Cerebral cortex development in humans is a highly complex and orchestrated process that is under tight genetic regulation. Rare mutations that alter gene expression or function can disrupt the structure of the cerebral cortex, resulting in a range of neurological conditions¹. Lissencephaly ('smooth brain') spectrum disorders comprise a group of rare, genetically heterogeneous congenital brain malformations commonly associated with epilepsy and intellectual disability². However, the molecular mechanisms underlying disease pathogenesis remain unknown. Here we establish hypoactivity of the mTOR pathway as a clinically relevant molecular mechanism in lissencephaly spectrum disorders. We characterized two types of cerebral organoid derived from individuals with genetically

SUBMITTER: Zhang C 

PROVIDER: S-EPMC11798849 | biostudies-literature | 2025 Feb

REPOSITORIES: biostudies-literature