Topic: Phelan-McDermid syndrome

Synaptic dysfunction is a key feature of SHANK-associated disorders such as autism spectrum disorder, schizophrenia, and Phelan-McDermid syndrome. Since detailed knowledge of their effect on synaptic nanostructure remains limited, we investigated such alterations in ex11|SH3 SHANK3-KO mice combining expansion (ExM) and STED microscopy. This enabled high-resolution imaging of mosaic-like arrangements formed by synaptic proteins. We found distinct shape-profiles as fingerprints of the murine postsynaptic scaffold across brain regions and genotypes, as well as alterations in the spatial and molec

Autism spectrum disorders (ASDs) are a range of neurodevelopmental disorders affecting social communication and behavior. Brain network dysfunctions are supported as a neurobiological basis for ASDs. Thus, functional connectivity (FC) studies are pivotal for unraveling autism-related large-scale network dynamics. Although functional imaging studies during development can be instrumental for autism diagnosis, longitudinal studies of FC consolidation over development to adulthood are missing in mice. SHANK3 is a postsynaptic scaffolding protein of excitatory synapses. Its deletion or mutation is

Autism Spectrum Disorders (ASD) are a range of neurodevelopmental disorders, characterized by behavioral and neuronal anomalies. Phelan-McDermid Syndrome (PMS) constitutes a specific neurodevelopmental disorder exhibiting ASD-like behaviors, caused by mutations or deletions of SHANK3 gene. Mice lacking the SHANK3 gene are widely considered a reliable model to study PMS, since they show autism-like behaviors and sensory deficits, such as aberrant whisker-dependent texture discrimination and local hyperactivation of the barrel-field cortex. These local alterations mirror dysfunctions of the enti