Konark Mukherjee, Ph.D.

Investigating the role of MAGUK in neurodevelopment

Why are mutations like CASK and SAP102 linked to neurodevelopmental disorders? 
Konark Mukherjee studies the role of MAGUK (Membrane Associated Guanylate Kinase) proteins in neurodevelopment. Neurodevelopment proceeds through a series of events culminating into formation of a productive neuronal network. One of the key final steps in neurodevelopment is refinement of transient connections, such as strengthening and weakening or elimination of transient synapses, which depends on their individual activity. These highly plastic changes in transient synapses require activity-dependent signaling. Proteins involved in synaptic plasticity are obvious effector molecules involved in synaptic pruning or refinement.

MAGUKs are a class of multi-domain scaffolding proteins present in both pre- and post synaptic compartment. They play crucial role in various forms of synaptic plasticity. Mutations in MAGUKs like CASK and SAP102 are often linked with neurodevelopmental disorders like X-linked intellectual disabilities. The goal of Mukherjee laboratory is to investigate the role of MAGUKs like CASK in neurodevelopment. The Mukherjee Lab uses both mouse and fly models of CASK knockout for this purpose. Besides animal work, the major thrust of the laboratory is to develop cell biological assays (biochemical, imaging and electrophysiological techniques) to identify the molecular function and signaling pathways of CASK and other MAGUKs.