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Inositol 1,4,5-Trisphosphate Receptor Mutations Associated with Human Disease: Insights into Receptor Function and Dysfunction.

Autor: Arige V; Department of Pharmacology and Physiology, University of Rochester Medical Center, Rochester, New York, USA; email: David_Yule@urmc.rochester.edu., MacLean DM; Department of Pharmacology and Physiology, University of Rochester Medical Center, Rochester, New York, USA; email: David_Yule@urmc.rochester.edu., Yule DI; Department of Pharmacology and Physiology, University of Rochester Medical Center, Rochester, New York, USA; email: David_Yule@urmc.rochester.edu.

Publikováno v: Annual review of physiology [Annu Rev Physiol] 2024 Nov 26. Date of Electronic Publication: 2024 Nov 26.

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.

Protein phosphatase-1 inhibitor-2 promotes PP1 γ positive regulation of synaptic transmission.

Autor: Foley K; Department of Pharmacology and Physiology, University of Rochester Medical Center, Rochester, NY, United States.; Neuroscience Graduate Program, Department of Neuroscience, School of Medicine and Dentistry, University of Rochester Medical Center, Rochester, NY, United States., Altimimi H; Department of Neurology and Neurosurgery, Center for Research in Neuroscience, McGill University, Montreal, QC, Canada., Hou H; Department of Pharmacology and Physiology, University of Rochester Medical Center, Rochester, NY, United States., Zhang Y; Department of Pharmacology and Physiology, University of Rochester Medical Center, Rochester, NY, United States., McKee C; Department of Pharmacology and Physiology, University of Rochester Medical Center, Rochester, NY, United States.; Neuroscience Graduate Program, Department of Neuroscience, School of Medicine and Dentistry, University of Rochester Medical Center, Rochester, NY, United States., Papasergi-Scott MM; Department of Pharmacology and Physiology, University of Rochester Medical Center, Rochester, NY, United States., Yang H; Department of Pharmacology and Physiology, University of Rochester Medical Center, Rochester, NY, United States., Mayer A; Neuroscience Graduate Program, Department of Neuroscience, School of Medicine and Dentistry, University of Rochester Medical Center, Rochester, NY, United States., Ward N; Department of Pharmacology and Physiology, University of Rochester Medical Center, Rochester, NY, United States., MacLean DM; Department of Pharmacology and Physiology, University of Rochester Medical Center, Rochester, NY, United States., Nairn AC; Department of Psychiatry, Yale University, New Haven, CT, United States., Stellwagen D; Department of Neurology and Neurosurgery, Center for Research in Neuroscience, McGill University, Montreal, QC, Canada., Xia H; Department of Pharmacology and Physiology, University of Rochester Medical Center, Rochester, NY, United States.; Neuroscience Graduate Program, Department of Neuroscience, School of Medicine and Dentistry, University of Rochester Medical Center, Rochester, NY, United States.

Publikováno v: Frontiers in synaptic neuroscience [Front Synaptic Neurosci] 2022 Oct 06; Vol. 14, pp. 1021832. Date of Electronic Publication: 2022 Oct 06 (Print Publication: 2022).

The α2δ-1-NMDA Receptor Complex Is Critically Involved in Neuropathic Pain Development and Gabapentin Therapeutic Actions.

Autor: Chen J, Li L, Chen SR, Chen H, Xie JD, Sirrieh RE, MacLean DM, Zhang Y, Zhou MH, Jayaraman V, Pan HL

Publikováno v: Cell reports [Cell Rep] 2022 Jan 25; Vol. 38 (4), pp. 110308.