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

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 acro...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Am J Hum Genet
Main Authors: Swanger, Sharon A., Chen, Wenjuan, Wells, Gordon, Burger, Pieter B., Tankovic, Anel, Bhattacharya, Subhrajit, Strong, Katie L., Hu, Chun, Kusumoto, Hirofumi, Zhang, Jing, Adams, David R., Millichap, John J., Petrovski, Slavé, Traynelis, Stephen F., Yuan, Hongjie
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2016
Assuntos:
Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5142120/
https://ncbi.nlm.nih.gov/pubmed/27839871
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2016.10.002
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados