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Clinical features, functional consequences, and rescue pharmacology of missense GRID1 and GRID2 human variants.

Autor: Allen JP; Department of Pharmacology and Chemical Biology, Emory University School of Medicine, 1510 Clifton Rd., Atlanta, GA 30322, United States.; Center for Functional Evaluation of Rare Variants (CFERV), Emory University School of Medicine, 1510 Clifton Rd., Atlanta, GA 30322, United States., Garber KB; Department of Human Genetics, Emory University School of Medicine, 615 Michael St., Atlanta GA 30322, United States.; EGL Genetics, 2460 Mountain Industrial Blvd., Tucker, GA 30084, United States., Perszyk R; Department of Pharmacology and Chemical Biology, Emory University School of Medicine, 1510 Clifton Rd., Atlanta, GA 30322, United States., Khayat CT; Department of Biomedical Engineering, Georgia Institute of Technology, 313 Ferst Drive, Atlanta, GA 30332, United States., Kell SA; Department of Pharmacology and Chemical Biology, Emory University School of Medicine, 1510 Clifton Rd., Atlanta, GA 30322, United States.; Department of Chemistry, Emory University School of Medicine, 1515 Dickey Dr, Atlanta, GA 30322, United States., Kaneko M; Division of Genomic Medicine, Department of Pathology, Children's Hospital Los Angeles, 4650 Sunset Blvd, Los Angeles, CA 90027, United States.; Center for Personalized Medicine, Children's Hospital Los Angeles, 4650 Sunset Blvd, Los Angeles, CA 90027, United States., Quindipan C; Center for Personalized Medicine, Children's Hospital Los Angeles, 4650 Sunset Blvd, Los Angeles, CA 90027, United States., Saitta S; Division of Clinical Genetics, Departments of Human Genetics, OBGYN and Pediatrics, David Geffen School of Medicine at UCLA, 200 Medical Plaza, Los Angeles, CA 90095, United States., Ladda RL; Division of Human Genetics, Department of Pediatrics, Penn State College of Medicine, 600 University Dr, Hershey, PA 17033, United States., Hewson S; Department of Genetic Counselling, The Hospital for Sick Children and Department of Molecular Genetics, University of Toronto, 1 King's College Circle, Toronto, ON M5G 1X8, Canada., Inbar-Feigenberg M; Division of Clinical & Metabolic Genetics, The Hospital for Sick Children and Pediatrics, University of Toronto, 555 University Avenue, Toronto ON M5G 1X8, Canada., Prasad C; Department of Pediatrics (Section of Genetics and Metabolism), Western University and Schulich School of Medicine and Dentistry, Children's Hospital LHSC, 800 Commissioners Road East, London, ON N6A5W9, Canada., Prasad AN; Division of Pediatric Neurology, Department of Pediatrics and Clinical Neurological Sciences, Western University and Schulich School of Medicine and Dentistry, Children's Hospital LHSC, 800 Commissioners Road East, London, ON N6A5W9, Canada., Olewiler L; Department of Pediatrics, Division of Medical Genetics, University of Mississippi Medical Center, 2500 N. State St., Jackson, MS 39216, United States., Mu W; Department of Genetic Medicine, Johns Hopkins University, 600 N. Wolfe St., Baltimore MD 21287, United States., Rosenthal LS; Department of Neurology, Johns Hopkins University, 601 N. Caroline St., Baltimore MD 21287, United States., Scala M; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Università Degli Studi di Genova, Largo Paolo Daneo, 3, 16132 Genova GE, Italy.; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Pavilion 16, Via Gerolamo Gaslini, 516147 Genoa GE, Italy., Striano P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Università Degli Studi di Genova, Largo Paolo Daneo, 3, 16132 Genova GE, Italy.; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Pavilion 16, Via Gerolamo Gaslini, 516147 Genoa GE, Italy., Zara F; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Pavilion 20, Via Gerolamo Gaslini, 516147 Genoa GE, Italy., McCullock TW; Department Pharmacology and Physiology, University of Rochester Medical Center, 601 Elmwood Avenue, Rochester NY, 14642, United States., Jauss RT; Institute of Human Genetics, University of Leipzig Medical Center, Philipp-Rosenthal-Str. 55, Haus W, Leipzig 04103, Germany., Lemke JR; Institute of Human Genetics, University of Leipzig Medical Center, Philipp-Rosenthal-Str. 55, Haus W, Leipzig 04103, Germany., MacLean DM; Department Pharmacology and Physiology, University of Rochester Medical Center, 601 Elmwood Avenue, Rochester NY, 14642, United States., Zhu C; Department of Biomedical Engineering, Georgia Institute of Technology, 313 Ferst Drive, Atlanta, GA 30332, United States., Yuan H; Department of Pharmacology and Chemical Biology, Emory University School of Medicine, 1510 Clifton Rd., Atlanta, GA 30322, United States.; Center for Functional Evaluation of Rare Variants (CFERV), Emory University School of Medicine, 1510 Clifton Rd., Atlanta, GA 30322, United States., Myers SJ; Department of Pharmacology and Chemical Biology, Emory University School of Medicine, 1510 Clifton Rd., Atlanta, GA 30322, United States.; Center for Functional Evaluation of Rare Variants (CFERV), Emory University School of Medicine, 1510 Clifton Rd., Atlanta, GA 30322, United States., Traynelis SF; Department of Pharmacology and Chemical Biology, Emory University School of Medicine, 1510 Clifton Rd., Atlanta, GA 30322, United States.; Center for Functional Evaluation of Rare Variants (CFERV), Emory University School of Medicine, 1510 Clifton Rd., Atlanta, GA 30322, United States.; Emory Neurodegenerative Disease Center, 615 Michael St., Emory University School of Medicine, Atlanta, GA 30322, United States.

Publikováno v: Human molecular genetics [Hum Mol Genet] 2024 Feb 01; Vol. 33 (4), pp. 355-373.

NMDA receptor channel gating control by the pre-M1 helix.

Autor: McDaniel MJ; Department of Pharmacology, Rollins Research Center, Emory University, Atlanta, GA., Ogden KK; Department of Pharmacology, Rollins Research Center, Emory University, Atlanta, GA., Kell SA; Department of Pharmacology, Rollins Research Center, Emory University, Atlanta, GA.; Department of Chemistry, Emory University, Atlanta, GA., Burger PB; Department of Chemistry, Emory University, Atlanta, GA., Liotta DC; Department of Chemistry, Emory University, Atlanta, GA., Traynelis SF; Department of Pharmacology, Rollins Research Center, Emory University, Atlanta, GA.

Publikováno v: The Journal of general physiology [J Gen Physiol] 2020 Apr 06; Vol. 152 (4).

Di-aryl Sulfonamide Motif Adds π-Stacking Bulk in Negative Allosteric Modulators of the NMDA Receptor.

Autor: Summer SL; Department of Chemistry, Emory University, Atlanta, Georgia 30322, United States., Kell SA; Department of Chemistry, Emory University, Atlanta, Georgia 30322, United States.; Department of Pharmacology, Emory University School of Medicine, Atlanta, Georgia 30322, United States., Zhu Z; Department of Pharmacology, Emory University School of Medicine, Atlanta, Georgia 30322, United States., Moore R; Department of Chemistry, Emory University, Atlanta, Georgia 30322, United States., Liotta DC; Department of Chemistry, Emory University, Atlanta, Georgia 30322, United States., Myers SJ; NeurOp Inc., 58 Edgewood Avenue, Atlanta, Georgia 30303, United States.; Department of Pharmacology, Emory University School of Medicine, Atlanta, Georgia 30322, United States., Koszalka GW; NeurOp Inc., 58 Edgewood Avenue, Atlanta, Georgia 30303, United States., Traynelis SF; Department of Pharmacology, Emory University School of Medicine, Atlanta, Georgia 30322, United States., Menaldino DS; Department of Chemistry, Emory University, Atlanta, Georgia 30322, United States.

Publikováno v: ACS medicinal chemistry letters [ACS Med Chem Lett] 2019 Jan 04; Vol. 10 (3), pp. 248-254. Date of Electronic Publication: 2019 Jan 04 (Print Publication: 2019).

A structurally derived model of subunit-dependent NMDA receptor function.

Autor: Gibb AJ; Department of Neuroscience, Physiology and Pharmacology, University College London, Gower Street, London, WC1E 6BT, UK., Ogden KK; Department of Pharmacology, Emory University School of Medicine, Rollins Research Center, 1510 Clifton Road, Atlanta, GA, 30322, USA., McDaniel MJ; Department of Pharmacology, Emory University School of Medicine, Rollins Research Center, 1510 Clifton Road, Atlanta, GA, 30322, USA., Vance KM; Department of Pharmacology, Emory University School of Medicine, Rollins Research Center, 1510 Clifton Road, Atlanta, GA, 30322, USA., Kell SA; Department of Chemistry, Emory University School, 1515 Dickey Drive, Atlanta, GA, 30322, USA., Butch C; Department of Chemistry, Emory University School, 1515 Dickey Drive, Atlanta, GA, 30322, USA., Burger P; Department of Chemistry, Emory University School, 1515 Dickey Drive, Atlanta, GA, 30322, USA., Liotta DC; Department of Chemistry, Emory University School, 1515 Dickey Drive, Atlanta, GA, 30322, USA., Traynelis SF; Department of Pharmacology, Emory University School of Medicine, Rollins Research Center, 1510 Clifton Road, Atlanta, GA, 30322, USA.

Publikováno v: The Journal of physiology [J Physiol] 2018 Sep; Vol. 596 (17), pp. 4057-4089. Date of Electronic Publication: 2018 Aug 01.