Lejeune SALA 2021 - Understanding the neuronal and synaptic dysfunctions caused by deletions and mutations of TCF20 intellectual disability gene (DSB.AD004.363)
Area tematica
Area progettuale
Neuroscienze (DSB.AD004)Struttura responsabile del progetto di ricerca
Responsabile di progetto
CARLO SALA
Telefono: 02 64488372
E-mail: carlo.sala@in.cnr.it
Abstract
Among several gene mutations identified as high-risk factors in the pathogenesis of neurodevelopmental disorders, de novo mutations of TCF20 (transcription factor 20) were identified in large-scale exome sequencing data of intellectual disability and autism patients. However the function of TCF20 in the brain development and function remains to be clarified. In this project we plan to fully study the function of TCF20 using in vitro, including human induced pluripotent cells derived neurons, and in vivo mouse models. Our project aims to reveal new potential therapeutic targets to treat patients carrying TCF20 deletions/mutations associated to severe intellectual disability and ASD, considering the increasing evidences that implicate variants in TCF20 gene in neurodevelopmental conditions with associated features.
Data inizio attività
21/07/2021
Parole chiave
sinapsi, intellectual disability
Ultimo aggiornamento: 16/04/2025