Conference – Dr. Marc Lussier, Tuesday, December 17 at 09:00 a.m.

PROTEO is pleased to invite you on Tuesday, December 17 at 09:00 a.m. to the presentation by Dr. Marc Lussier (Université du Québec à Montréal) invited by Dr. Steve Jean (Université de Sherbrooke) in the Pavillon de l’Institut de Recherche sur le Cancer de l`Université de Sherbrooke (IRCUS) in room Z8-1049/50.

“ Variants de l’ubiquitine-ligase RNF13 et encéphalopathie épileptique développementale : Exploration des mécanismes moléculaires et des répercussions neuronales.”

The ubiquitin-proteasome system plays an essential role in controlling many cellular mechanisms. The system is responsible for maintaining cellular functions, including controlling protein degradation, facilitating membrane trafficking and regulating the influx of materials into cells. The ubiquitin ligase RING finger 13 (RNF13) is an enzyme that belongs to the mammalian PA-TM-RING family. There are significant gaps in knowledge about the role of these enzymes in mammals. Intriguingly, RNF13 is now associated with developmental epileptic encephalopathy (DEE73), a rare neurological disease caused by autosomal dominant mutations that result in developmental delays, intellectual disabilities and seizures. In my presentation, I will reveal the results of our recent work conducted by my research group to improve our understanding of the molecular abnormalities associated with DEE73. I will also discuss our experimental strategy, which involved theoretical protein modelling using AlphaFold to identify RNF13-associated protein complexes.

Can’t attend the conference in person?