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

American Journal of Human Genetics

Volumn 99, Issue 6, 2016, Pages 1261-1280

  Swanger, Sharon A ^a   Chen, Wenjuan ^a,f   Wells, Gordon ^b,g   Burger, Pieter B ^b   Tankovic, Anel ^a   Bhattacharya, Subhrajit ^a   Strong, Katie L ^a,b   Hu, Chun ^a   Kusumoto, Hirofumi ^a   Zhang, Jing ^a   Adams, David R ^c   Millichap, John J ^d   Petrovski, Slavé ^e   Traynelis, Stephen F ^a   Yuan, Hongjie ^a  

^a EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b EMORY UNIVERSITY   (United States)

^c NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^d NORTHWESTERN UNIVERSITY   (United States)

^e UNIVERSITY OF MELBOURNE   (Australia)

^f CENTRAL SOUTH UNIVERSITY   (China)

^g STELLENBOSCH UNIVERSITY   (South Africa)

Author keywords

[No Author keywords available]

Indexed keywords

BETA LACTAMASE; GLUTAMIC ACID; N METHYL DEXTRO ASPARTIC ACID RECEPTOR 2A; N METHYL DEXTRO ASPARTIC ACID RECEPTOR 2B; N METHYL DEXTRO ASPARTIC ACID RECEPTOR STIMULATING AGENT; N METHYL DEXTRO ASPARTIC ACID RECEPTOR; N-METHYL D-ASPARTATE RECEPTOR SUBTYPE 2A; NR2B NMDA RECEPTOR; PROTEIN BINDING;

AMINO TERMINAL SEQUENCE; ARTICLE; BIOGENESIS; BIOTINYLATION; CARBOXY TERMINAL SEQUENCE; CHANNEL GATING; DEVELOPMENTAL DISORDER; EMBRYO; GAIN OF FUNCTION MUTATION; GENETIC VARIATION; HUMAN; HUMAN CELL; INTELLECTUAL IMPAIRMENT; INTRACTABLE EPILEPSY; LOSS OF FUNCTION MUTATION; MAJOR CLINICAL STUDY; MENTAL DISEASE; MISSENSE MUTATION; MUSCLE HYPOTONIA; NEUROLOGIC DISEASE; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN FUNCTION; PROTEIN LOCALIZATION; PROTEIN STRUCTURE; RECEPTOR BINDING; SCHIZOPHRENIA; AGONISTS; CHEMISTRY; EPILEPSY; EXOME; GENETICS; METABOLISM; MOLECULAR MODEL; NERVE CELL; PROTEIN TRANSPORT; SEIZURE;

EPILEPSY; EXOME; GLUTAMIC ACID; HUMANS; INTELLECTUAL DISABILITY; MODELS, MOLECULAR; MUTATION, MISSENSE; NEURONS; PROTEIN BINDING; PROTEIN DOMAINS; PROTEIN TRANSPORT; RECEPTORS, N-METHYL-D-ASPARTATE; SEIZURES;

EID: 85004092977     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2016.10.002     Document Type: Article

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