Forebrain Eml1 depletion reveals early centrosomal dysfunction causing subcortical heterotopia.

ABSTRACT: Subcortical heterotopia is a cortical malformation associated with epilepsy, intellectual disability, and an excessive number of cortical neurons in the white matter. Echinoderm microtubule-associated protein like 1 (EML1) mutations lead to subcortical heterotopia, associated with abnormal radial glia positioning in the cortical wall, prior to malformation onset. This perturbed distribution of proliferative cells is likely to be a critical event for heterotopia formation; however, the underlying mechanisms remain unexplained. This study aimed to decipher the early cellular alterations leading to abnormal radial glia. In a forebrain conditional Eml1 mutant model and human patient cells, primary cilia and centrosomes are altered. Microtubule dynamics and cell cycle kinetics are also abnormal

SUBMITTER: Zaidi D 

PROVIDER: S-EPMC11450323 | biostudies-literature | 2024 Dec

REPOSITORIES: biostudies-literature