Deep-phenotype characterization of GRIN1 zebrafish models, a new tool to study GRIN-related disorders
Sílvia Locubiche Serra, Mireia Olivella, Flavia de Santis, Davide Rubbini, Xavier Altafaj, Javier Terriente · FENS Forum 2024
The NMDA-type family of ionotropic glutamate receptors plays critical roles in neurons and glial cells functions, such as synaptic development, plasticity, neuronal survival. Recently, de novo variants of GRIN genes -encoding GluN subunits of the NMDA receptors- have been associated with neurodevelopmental disorders, defining GRIN-related disorders (GRD), a rare developmental encephalopathy with a clinical spectrum resulting from primary defects on glutamatergic neurotransmission. The genetic heterogeneity underlying GRD aetiology might be addressed using zebrafish larvae model. In this study
ePoster · Neuroscience