SEMA-gene modulation as a strategy to identify druggable targets for the treatment of CHARGE syndrome
Federica Amoruso, Federica La Rocca, Alyssa Paganoni, Roberto Oleari, Riccardo Cristofani, Pamela Santonicola, Elia Di Schiavi, Anna Cariboni · FENS Forum 2024
CHARGE syndrome (CS) is a rare genetic disease, mainly due to mutations in the chromatin remodeler gene CHD7 and characterized by multiple neuronal dysfunctions and malformations of neural-crest derived organs, for which no pharmacological treatments are available. CS high phenotypic variability could be explained by mutations in genes with an epistatic relationship to CHD7, that may alter the expressivity of disease traits. In this context, recent evidence revealed that genes encoding semaphorins (SEMA) and their receptors might be good candidates as CHD7 genetic interactors. Thus, we generat
ePoster · Neuroscience