Topic: OPHN1

Intellectual Disability-Autism spectrum disorder (ID-ASD) are complex neurodevelopmental diseases characterized by a wide spectrum of deficits in cognitive, social and adaptive functions. Among the X-linked gene associate to ASD-ID, OPHN1 encodes a Rho GTPase-activating protein (Rho-GAP) expressed in neurons and non-neuronal cells, during development and in adulthood, in brain areas with a high degree of plasticity, such as the cortex, the hippocampus, and the olfactory bulb (OB). Several evidence indicate that part of the ID-ASD pathology can be ascribed to defects in synaptic morphology and

Ophn1 gene encodes Oligophrenin-1 (OPHN1), a Rho-GAP protein highly expressed in neurons. In humans, all Ophn1 mutations cause the loss of function of OPHN1 leading to syndromic intellectual disability (ID). In neurons, OPHN1 regulates dendritic spine density and architecture, actin dynamics and AMPA receptor (AMPAR) trafficking. Interestingly, we identified for the first time OPHN1 as a novel target of sumoylation. Sumoylation is a post-translational modification essential to the modulation of several neuronal functions, including neurotransmitter release and synaptic plasticity. Altered sumo