ePoster · Neuroscience
Elona Ndoj, Luca La Via, Matteo Bertoli, Alessandro Barbon · FENS Forum 2024
CYFIP2, a component of the WAVE regulatory complex, plays a crucial role in regulating actin dynamics and synaptic function. Through genetic analysis of patients diagnosed with Early Infantile Epileptic Encephalopathy (EIEE), novel mutations in the CYFIP2 gene were identified. Functional studies revealed altered synaptic plasticity and neuronal excitability associated with these mutations. Furthermore, behavioral assays in animal models harboring CYFIP2 mutations demonstrated phenotypes consistent with epileptic encephalopathy. These findings underscore the significance of CYFIP2 in neuronal d
ePoster · Neuroscience
Christine Roemer, Katarzyna Ludwik, Nicolai von Kuegelgen, David Peran Hayes, Samantha Mendosa, Marina Chekulaeva · FENS Forum 2024
Amyotrophic lateral sclerosis (ALS) is an incurable disease of the motoric nervous system characterized by loss of function and degeneration of upper and lower motoneurons. Models resembling clinics are required to study pathomechanisms and validate therapeutic options in ALS. Here, we reprogrammed fibroblasts from ALS patient carrying a mutation in Fused in Sarcoma (FUS) gene into induced pluripotent stem cells (iPSCs). An isogenic iPSC line was generated to serve as a control. Doxycycline-inducible NIL-cassette was introduced for motoneuron differentiation. Motoneurons were analyzed for
ePoster · Neuroscience
Jin-Yuan Wang, Jeanne Chan, Kasandra McCormack, Allen C. Eaves, Sharon A. Louis, Erin Knock · FENS Forum 2024
Current advances allow for efficient generation of neuron, astrocyte and microglia cultures from human pluripotent stem cells (hPSCs). However, monocultures lack physiologically important glia-neuron interactions. We created a protocol to co-culture neurons with astrocytes and microglia to assess the impact of glia on neuronal morphology and recovery under injury conditions. We generated hPSC-derived forebrain neurons, astrocytes and microglia using the STEMdiff™ Forebrain Neuron, Astrocyte and Microglia culture systems, respectively. We maintained neuron-astrocyte co-cultures for one week usi