Lonnie P. Wollmuth

The paper introduces Gene Portals, a framework that integrates clinical, functional, and structural data for rare disease variant classification, demonstrating its utility across five gene-specific portals.

This study shows that loss of NMDA receptor function in zebrafish leads to reduced KCC2 expression and increased neurons in the forebrain during post-embryonic neurogenesis.

This study shows CNIH-2 enhances AMPAR tetramerization more than TARP γ-2, aiding in receptor maturation and surface expression.

The paper evaluates the functional effects of disease-associated NMDA receptor variants using an integrated assay combining charge transfer and Ca2+ influx measurements.

The paper investigates the conservation and expression of synaptotagmin isoforms in zebrafish retina, identifying their roles in Ca2+-dependent exocytosis.

This study develops a zebrafish model with CRISPR-mediated NMDAR gene lesions to investigate NMDAR function in early nervous system development and behavior.

The paper investigates the mechanism by which NMDA receptors transition through pre-opening states to achieve efficient synaptic activity.

The paper shows that lupus auto-antibodies modulate NMDA receptors and cause spatial memory deficits, with GluN2A subunits being more sensitive to these antibodies.

The paper identifies a conserved glycine in NMDA receptors that influences slow deactivation and high Ca2+ permeability through structural changes caused by disease-associated mutations.