Mechanisms and therapeutic approaches for SETD5 syndrome
Georgia Chaldaiopoulou, Isabella R Fernandes, Janaina S de Souza, Xiwei Shan, Diogo Dos Santos, Sandra Sanchez, Miguel Tenreiro, Angels Almenar-Queralt, Alysson R Muotri · FENS Forum 2024
Autism spectrum disorder (ASD) affects approximately 1 in 36 individuals, imposing lifelong challenges on patients. Yet still, effective treatments for ASD remain elusive. Rare mutations in the SETD5 (SET Domain Containing 5) gene, a chromatin regulator, have been firmly linked to ASD with high confidence. To date, reports studying the molecular role of SETD5 are limited and how exactly SETD5 haploinsufficiency leads to ASD remains unclear. Setd5-haploinsufficient mice have successfully demonstrated ASD-like behaviours, yet they fail to accurately replicate human brain development and patholog
ePoster · Neuroscience