Unraveling mTORopathies: mTOR hyperactivation induces mutation-specific functional phenotypes in human neuronal networks
Marie Le Bihan, Ka Man Wu, Nicky Scheefhals, Eleonora Aronica, Nael Nadif Kasri, Dirk Schubert · FENS Forum 2024
The mTOR pathway is a pivotal cellular signaling pathway that impacts neuronal differentiation and function. Genetic disruptions leading to hyperactivation of the mTOR pathway, termed mTORopathies, represent rare genetic and systemic disorders that are associated with altered brain development and epilepsy. However, the precise mechanisms by which disrupted mTOR signaling affects neuronal network development and signaling remain poorly understood. Human induced pluripotent stem cells (iPSCs) and CRISPR/Cas9 genome editing, allowed the generation of a panel of isogenic iPSC lines carrying mutat
ePoster · Neuroscience