Topic: protein replacement therapy

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

Rett syndrome (RTT) is a severe neurodevelopmental disorder linked to abnormal levels of methyl CpG binding protein 2 (MeCP2), a global transcriptional regulator, known to both enhance and silence gene expression. It has been demonstrated on numerous occasions, however, that replenishing functional MeCP2 levels in the central nervous system, can ameliorate and even reverse the RTT phenotype. One such RTT treatment approach involves administering recombinantly purified MeCP2 while tethered to the cell-penetrating peptide TAT which is known to transduce fused protein cargo across cell membrane a