Accepted_test
Knockout or Deletion of the UBE2A Gene Leads to Disruption of the Rho/ROCK Signaling Pathway and Impaired Migration of Neural Cells Differentiated from iPSCs
Nascimento syndrome is a rare form of X-linked intellectual disability. First described by Rafaella Nascimento in 2006, it is characterised by delayed intellectual and cognitive development. The syndrome is associated with loss-of-function mutations in the UBE2A gene, which encodes the ubiquitin-conjugating enzyme E2A. However, the functions of UBE2A in neurogenesis are poorly understood. This study aims to establish relevant cellular models with the UBE2A gene dosage changes and the Nascimento syndrome patient cell line to reveal the association of UBE2A with Nascimento syndrome and its impact on neural development using cellular technologies and omics analysis.