Phelan-McDermid Syndrome (P-MS) is a neurodevelopmental disorder caused by a disruption in the SHANK3 gene. Over 80% of patients are diagnosed with Autism Spectrum Disorder (ASD) and display a core symptom of ASD, restricted and repetitive behaviors (RRBs)
The SHANK3B-/- mouse model recapitulates the RRBs found in patients with P-MS, and also exhibits decreases in excitatory synaptic transmission in the striatum. It is hypothesized that this causes alterations of signaling in the basal ganglia-thalamo-cortical circuitry that regulates movement and is the source of the RRBs. The aim of my work is to determine if we can normalize alterations in basal ganglia-thalamo-cortical signaling and RRBs in SHANK3B-/- mice using pharmacological approaches.
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Key: MeSH Term Keywordalpha-Tocopherol Animals Animals, Newborn Antioxidants Ascorbic Acid autism spectrum disorder Behavior, Animal Behavior tests Brain Cell Line, Transformed Disease Models, Animal electrophysiolgy Female Fibroblasts Gene Expression Regulation Humans Liver Male Mice Mice, Transgenic Oxidoreductases Acting on CH-CH Group Donors Pharmacology Serotonin Smith-Lemli-Opitz Syndrome Ubiquinone