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. 


The following timeline graph is generated from all co-authored publications.

Featured publications are shown below:

  1. Antioxidant supplementation ameliorates molecular deficits in Smith-Lemli-Opitz syndrome. Korade Z, Xu L, Harrison FE, Ahsen R, Hart SE, Folkes OM, Mirnics K, Porter NA (2014) Biol Psychiatry 75(3): 215-22
    › Primary publication · 23896203 (PubMed) · PMC3874268 (PubMed Central)
  2. Behavioral and serotonergic response changes in the Dhcr7-HET mouse model of Smith-Lemli-Opitz syndrome. Korade Z, Folkes OM, Harrison FE (2013) Pharmacol Biochem Behav : 101-8
    › Primary publication · 23541496 (PubMed)