Penn Lab


Glutamate Receptor Ion Channels and Synapse Dysfunction

Glutamate receptor ion channels (iGluRs) are essential for relaying and storing information at excitatory synapses in the vertebrate nervous system. Vesicular release of glutamate excites postsynaptic nerve cells by activating three major types of iGluRs: AMPA, Kainate and NMDA receptors. An increasing number of polymorphisms and disease-linked mutations in human iGluR genes are being reported or deposited in public databases. Our lab is interested in understanding how these genetic changes in iGluRs influence synaptic transmission and the action of therapeutics.

Recent preprints 

Elmasri et al. (2020) Common synaptic phenotypes arising from diverse mutations in the human NMDA receptor subunit GluN2A. bioRxiv.