Communications Biology (Feb 2022)

Common synaptic phenotypes arising from diverse mutations in the human NMDA receptor subunit GluN2A

  • Marwa Elmasri,
  • Daniel William Hunter,
  • Giles Winchester,
  • Ella Emine Bates,
  • Wajeeha Aziz,
  • Does Moolenaar Van Der Does,
  • Eirini Karachaliou,
  • Kenji Sakimura,
  • Andrew. Charles Penn

DOI
https://doi.org/10.1038/s42003-022-03115-3
Journal volume & issue
Vol. 5, no. 1
pp. 1 – 17

Abstract

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The cell-autonomous effect of five severe loss- or gain-of-function GluN2A (NMDA receptor) mutations is assessed on evoked NMDAR-mediated synaptic currents in CA1 pyramidal neurons in cultured mouse hippocampal slices. Data and modelling suggest that mutant-like NMDA-EPSCs can lead to abnormal temporal summation and spine calcium dynamics.