Mechanistic Insight into NMDA Receptor Dysregulation by Rare Variants in the GluN2A and GluN2B Agonist Binding Domains.

@article{Swanger2016MechanisticII,
  title={Mechanistic Insight into NMDA Receptor Dysregulation by Rare Variants in the GluN2A and GluN2B Agonist Binding Domains.},
  author={Sharon A Swanger and Wenjuan Chen and Gordon A Wells and Pieter B. Burger and Anel Tankovic and Subhrajit Bhattacharya and Katie L Strong and C. Y. Hu and Hirofumi Kusumoto and Jing Zhang and David R Adams and John J Millichap and Slav{\'e} Petrovski and Stephen F Traynelis and Hongjie Yuan},
  journal={American journal of human genetics},
  year={2016},
  volume={99 6},
  pages={1261-1280}
}
Epilepsy and intellectual disability are associated with rare variants in the GluN2A and GluN2B (encoded by GRIN2A and GRIN2B) subunits of the N-methyl-D-aspartate receptor (NMDAR), a ligand-gated ion channel with essential roles in brain development and function. By assessing genetic variation across GluN2 domains, we determined that the agonist binding domain, transmembrane domain, and the linker regions between these domains were particularly intolerant to functional variation. Notably, the… CONTINUE READING
Recent Discussions
This paper has been referenced on Twitter 9 times over the past 90 days. VIEW TWEETS

Citations

Publications citing this paper.
Showing 1-10 of 16 extracted citations

Similar Papers

Loading similar papers…