Investigation of protein replacement therapy for Rett Syndrome using directly reprogrammed neurons
Hannes Steinkellner, Anna M. Huber, Victoria Sarne, Alexander V. Beribisky, Sophia Derdak, Silvia Madritsch, John Christodoulou, Sigismund Huck, Bronwen Connor, Winfried Neuhaus, Franco Laccone · FENS Forum 2024
Rett Syndrome (RTT) is a severe neurodevelopmental disorder primarily affecting females. The disease is mainly caused by pathogenic variants in the X-linked MECP2 gene, which encodes for the global transcriptional regulator MeCP2, important for neuronal maturation and maintenance. So far, no cure is currently available. Recently, cell penetrating peptides (CPPs) attracted a special interest in the use of protein replacement therapy by facilitating the transport of proteins across cell membranes and the blood-brain barrier (BBB).In this study, we generated a neuronal cell model by direct reprog
ePoster · Neuroscience