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Topic: actin dynamics

ePoster
3 ePosters

In Neuroscience

CYFIP2 Arg87Cys mutation: Unraveling its role in early infantile epileptic encephalopathy

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

Long-term potentiation (LTP) can have an early phase constituting a transient increase in synaptic strength, and a late phase sustaining this increase. The synaptic tagging and capture hypothesis states that the late phase occurs if the stimulus leads to a transient ‘synaptic tag’ along with plasticity-related protein (PRP) synthesis. If both are present, the post synaptic density (PSD) remodels, giving rise to long-lasting changes in the synaptic weight. With computational modelling, we test the hypothesis that actin dynamics in interaction with spine geometry acts as a synaptic tag.Actin dyn

ePoster · Neuroscience

Sumoylation tunes actin dynamics in dendritic spines by unlocking the autoinhibitory interaction between the BAR and GAP domains of OPHN1

Alessia Seccia, Marta Busnelli, Cristina Guglielmetti, Marco Erreni, Marie Pronot, Fabrizia Claudia Guarnieri, Ninoska Polona Diestra, Marta Prieto, Chiara Scacchi, Gwenola Poupon, Silvia Bassani, Davide Pozzi, Matteo Fossati, Maria Passafaro, Federico Forneris, Stèphane Martin, Michela Matteoli, Alessandra Folci · FENS Forum 2024

Ophn1 gene encodes Oligophrenin-1 (OPHN1), a Rho-GAP protein highly expressed in neurons. In humans, all Ophn1 mutations cause the loss of function of OPHN1 leading to syndromic intellectual disability (ID). In neurons, OPHN1 regulates dendritic spine density and architecture, actin dynamics and AMPA receptor (AMPAR) trafficking. Interestingly, we identified for the first time OPHN1 as a novel target of sumoylation. Sumoylation is a post-translational modification essential to the modulation of several neuronal functions, including neurotransmitter release and synaptic plasticity. Altered sumo

ePoster · Neuroscience