ArticleMolecular pharmacology2017
Functional Evaluation of a De Novo
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Article in Molecular pharmacology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 55 papers.
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55citing papers in PubMed
7.7field-weighted citation impact, top 3% of its field
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Who cites it
55 citing papers in PubMed, 79 citations in OpenAlex.
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- AMCF-RDP: a self-attention-based multi-source and cascade framework for the identification of drug-protein relationships.Molecular diversity · 2026Article
- A mitochondrial-neuroinflammation-D-serine connection in epilepsy.Proceedings of the National Academy of Sciences of the United States of America · 2026Article
- Inhibition of GluN2B-containing N-methyl-D-aspartate receptors by radiprodil.Brain : a journal of neurology · 2026Article
- Cryo-EM snapshots of NMDA receptor activation illuminate sequential rearrangements.Science advances · 2025Article
- Disruption ofThe Journal of neuroscience : the official journal of the Society for Neuroscience · 2025Article
- Ligand distances as key predictors of pathogenicity and function in NMDA receptors.Human molecular genetics · 2025Article
- Critical contributions of neuronal subtypes to pediatric drug-resistant focal dysplasia.Frontiers in cell and developmental biology · 2025Article
- Clinical phenotype and functional influence of GRIN2A variants in epilepsy-aphasia syndrome.Epilepsia open · 2024Article
- Disease-Associated Variants in GRIN1, GRIN2A and GRIN2B genes: Insights into NMDA Receptor Structure, Function, and Pathophysiology.Physiological research · 2024Review
- Rescuing tri-heteromeric NMDA receptor function: the potential of pregnenolone-sulfate in loss-of-function GRIN2B variants.Cellular and molecular life sciences : CMLS · 2024Article
- De novo GRIN variants in M3 helix associated with neurological disorders control channel gating of NMDA receptor.Cellular and molecular life sciences : CMLS · 2024Article
- Differential functional consequences of GRIN2A mutations associated with schizophrenia and neurodevelopmental disorders.Scientific reports · 2024Article
- Adapting the endoplasmic reticulum proteostasis rescues epilepsy-associated NMDA receptor variants.Acta pharmacologica Sinica · 2024Article
- A Frameshift Variant of GluN2A Identified in an Epilepsy Patient Results in NMDA Receptor Mistargeting.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2024Article
- Clinical and functional consequences of GRIA variants in patients with neurological diseases.Cellular and molecular life sciences : CMLS · 2023Article
- Classification of missense variants in the N-methyl-d-aspartate receptor GRIN gene family as gain- or loss-of-function.Human molecular genetics · 2023Article
- Binding and Dynamics Demonstrate the Destabilization of Ligand Binding for the S688Y Mutation in the NMDA Receptor GluN1 Subunit.Molecules (Basel, Switzerland) · 2023Article
- Functional effects of disease-associated variants reveal that the S1-M1 linker of the NMDA receptor critically controls channel opening.Cellular and molecular life sciences : CMLS · 2023Article
- Two gates mediate NMDA receptor activity and are under subunit-specific regulation.Nature communications · 2023Article
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 2 countries.
Wenjuan ChenDepartment of Pharmacology, Rollins Research Center, School of Medicine, Emory University, Atlanta, Georgia (W.C., A.T., H.K., S.F.T., H.Y.); Department of Neurology, Xiangya Hospital, Central South University, Changsha, People's Republic of China (W.C.); Department of Chemistry, Emory University, Atlanta, Georgia (P.B.B.); Center for Functional Evaluation of Rare Variants (CFERV), Rollins Research Center, School of Medicine, Emory University, Atlanta, Georgia (S.F.T., H.Y.).
Anel TankovicDepartment of Pharmacology, Rollins Research Center, School of Medicine, Emory University, Atlanta, Georgia (W.C., A.T., H.K., S.F.T., H.Y.); Department of Neurology, Xiangya Hospital, Central South University, Changsha, People's Republic of China (W.C.); Department of Chemistry, Emory University, Atlanta, Georgia (P.B.B.); Center for Functional Evaluation of Rare Variants (CFERV), Rollins Research Center, School of Medicine, Emory University, Atlanta, Georgia (S.F.T., H.Y.).
Pieter B BurgerDepartment of Pharmacology, Rollins Research Center, School of Medicine, Emory University, Atlanta, Georgia (W.C., A.T., H.K., S.F.T., H.Y.); Department of Neurology, Xiangya Hospital, Central South University, Changsha, People's Republic of China (W.C.); Department of Chemistry, Emory University, Atlanta, Georgia (P.B.B.); Center for Functional Evaluation of Rare Variants (CFERV), Rollins Research Center, School of Medicine, Emory University, Atlanta, Georgia (S.F.T., H.Y.).
Hirofumi KusumotoDepartment of Pharmacology, Rollins Research Center, School of Medicine, Emory University, Atlanta, Georgia (W.C., A.T., H.K., S.F.T., H.Y.); Department of Neurology, Xiangya Hospital, Central South University, Changsha, People's Republic of China (W.C.); Department of Chemistry, Emory University, Atlanta, Georgia (P.B.B.); Center for Functional Evaluation of Rare Variants (CFERV), Rollins Research Center, School of Medicine, Emory University, Atlanta, Georgia (S.F.T., H.Y.).
Stephen F TraynelisDepartment of Pharmacology, Rollins Research Center, School of Medicine, Emory University, Atlanta, Georgia (W.C., A.T., H.K., S.F.T., H.Y.); Department of Neurology, Xiangya Hospital, Central South University, Changsha, People's Republic of China (W.C.); Department of Chemistry, Emory University, Atlanta, Georgia (P.B.B.); Center for Functional Evaluation of Rare Variants (CFERV), Rollins Research Center, School of Medicine, Emory University, Atlanta, Georgia (S.F.T., H.Y.) strayne@emory.edu hyuan@emory.edu.
Hongjie YuanDepartment of Pharmacology, Rollins Research Center, School of Medicine, Emory University, Atlanta, Georgia (W.C., A.T., H.K., S.F.T., H.Y.); Department of Neurology, Xiangya Hospital, Central South University, Changsha, People's Republic of China (W.C.); Department of Chemistry, Emory University, Atlanta, Georgia (P.B.B.); Center for Functional Evaluation of Rare Variants (CFERV), Rollins Research Center, School of Medicine, Emory University, Atlanta, Georgia (S.F.T., H.Y.) strayne@emory.edu hyuan@emory.edu.
Emory University · USXiangya Hospital Central South University · CNCentral South University · CN
Funding
Atlanta Clinical and Translational Science Institute (ACTSI) RenewalUL1TR000454 · NCATS · EMORY UNIVERSITY · PI STEPHENS, DAVID S · 2012 to 2016
$25.8MControl of Glutamate Receptor FunctionR01NS036654 · NINDS · EMORY UNIVERSITY · PI TRAYNELIS, STEPHEN F · 1998 to 2018
$3.7MMechanism of Action of Novel Subunit-Selective NMDA Receptor ModulatorsR01NS065371 · NINDS · EMORY UNIVERSITY · PI TRAYNELIS, STEPHEN F · 2009 to 2018
$3.4MNMDAR Mutations & Neurodevelopmental Disorder: from Mechanism to Targeted TherapyR01HD082373 · NICHD · EMORY UNIVERSITY · PI YUAN, HONGJIE · 2015 to 2025
$3.3MFunctional effects of ion channel mutations found via exome sequencingR24NS092989 · NINDS · EMORY UNIVERSITY · PI TRAYNELIS, STEPHEN F · 2016 to 2019
$1.1MNCATS NIH HHS UL1 TR000454NICHD NIH HHS R01 HD082373NINDS NIH HHS R01 NS036654NINDS NIH HHS R01 NS065371NINDS NIH HHS R24 NS092989
Abstract
The N-methyl-d-aspartate receptor (NMDAR), a ligand-gated ionotropic glutamate receptor, plays important roles in normal brain development and a wide range of neurologic disorders, including epilepsy. Here, we evaluate for the first time the functional properties of a de novo
Indexed as
Amino Acid SequenceConserved SequenceDevelopmental DisabilitiesEpilepsyHEK293 CellsHumansModels, MolecularMutant ProteinsMutation, MissenseProtein SubunitsReceptors, N-Methyl-D-AspartateSynapsesTime FactorsMutant ProteinsProtein SubunitsReceptors, N-Methyl-D-Aspartate
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