Novel neuroactive steroids as positive allosteric modulators of NMDA receptors: mechanism, site of action, and rescue pharmacology on GRIN variants associated with neurological conditions

[1]  M. D. Hill,et al.  SAGE-718: A First-in-Class N-Methyl-d-Aspartate Receptor Positive Allosteric Modulator for the Potential Treatment of Cognitive Impairment. , 2022, Journal of medicinal chemistry.

[2]  L. Vyklický,et al.  Pregnane‐based steroids are novel positive NMDA receptor modulators that may compensate for the effect of loss‐of‐function disease‐associated GRIN mutations , 2022, British journal of pharmacology.

[3]  X. Gasull,et al.  Allosteric Modulation of NMDARs Reverses Patients' Autoantibody Effects in Mice , 2021, Neurology: Neuroimmunology & Neuroinflammation.

[4]  J. Diamond,et al.  Structure, Function, and Pharmacology of Glutamate Receptor Ion Channels , 2021, Pharmacological Reviews.

[5]  S. Traynelis,et al.  Clinical and therapeutic significance of genetic variation in the GRIN gene family encoding NMDARs , 2021, Neuropharmacology.

[6]  L. Vyklický,et al.  Pitfalls of NMDA Receptor Modulation by Neuroactive Steroids. The Effect of Positive and Negative Modulation of NMDA Receptors in an Animal Model of Schizophrenia , 2021, Biomolecules.

[7]  D. Liotta,et al.  The Negative Allosteric Modulator EU1794-4 Reduces Single-Channel Conductance and Ca2+ Permeability of GluN1/GluN2A N-Methyl-d-Aspartate Receptors , 2021, Molecular Pharmacology.

[8]  D. Liotta,et al.  Distinct GluN1 and GluN2 Structural Determinants for Subunit-Selective Positive Allosteric Modulation of N-Methyl-d-aspartate Receptors. , 2020, ACS chemical neuroscience.

[9]  Y. Izumi,et al.  Effects of CYP46A1 Inhibition on Long-Term-Depression in Hippocampal Slices ex vivo and 24S-Hydroxycholesterol Levels in Mice in vivo , 2020, Frontiers in Molecular Neuroscience.

[10]  S. Traynelis,et al.  Positive allosteric modulators that target NMDA receptors rectify loss-of-function GRIN variants associated with neurological and neuropsychiatric disorders , 2020, Neuropharmacology.

[11]  L. Vyklický,et al.  Site of Action of Brain Neurosteroid Pregnenolone Sulfate at the N-Methyl-D-Aspartate Receptor , 2020, The Journal of Neuroscience.

[12]  A. Gibb,et al.  Hodgkin–Huxley–Katz Prize Lecture: Genetic and pharmacological control of glutamate receptor channel through a highly conserved gating motif , 2020, The Journal of physiology.

[13]  Y. Bae,et al.  Early correction of synaptic long-term depression improves abnormal anxiety-like behavior in adult GluN2B-C456Y-mutant mice , 2020, PLoS biology.

[14]  D. Liotta,et al.  Biased modulators of NMDA receptors control channel opening and ion selectivity , 2019, Nature Chemical Biology.

[15]  Francis Chee Kuan Tan,et al.  Distinct roles of GRIN2A and GRIN2B variants in neurological conditions , 2019, F1000Research.

[16]  M. Quirk,et al.  Neuroactive Steroid N-Methyl-D-aspartate Receptor (NMDAR) Positive Allosteric Modulators: Synthesis, SAR and Pharmacological Activity. , 2019, Journal of medicinal chemistry.

[17]  R. Møller,et al.  Update on the genetics of the epilepsy-aphasia spectrum and role of GRIN2A mutations. , 2019, Epileptic disorders : international epilepsy journal with videotape.

[18]  I. Módy,et al.  Preferential enhancement of GluN2B-containing native NMDA receptors by the endogenous modulator 24S-hydroxycholesterol in hippocampal neurons , 2019, Neuropharmacology.

[19]  L. Wollmuth,et al.  Structure, function, and allosteric modulation of NMDA receptors , 2018, The Journal of general physiology.

[20]  D. Liotta,et al.  An NMDAR positive and negative allosteric modulator series share a binding site and are interconverted by methyl groups , 2018, eLife.

[21]  L. Vyklický,et al.  Surface Expression, Function, and Pharmacology of Disease-Associated Mutations in the Membrane Domain of the Human GluN2B Subunit , 2018, Front. Mol. Neurosci..

[22]  Hongjie Yuan,et al.  De Novo Mutations and Rare Variants Occurring in NMDA Receptors. , 2018, Current opinion in physiology.

[23]  M. Quirk,et al.  Positive Allosteric Modulation as a Potential Therapeutic Strategy in Anti-NMDA Receptor Encephalitis , 2018, The Journal of Neuroscience.

[24]  Benjamin D. Sellers,et al.  A novel NMDA receptor positive allosteric modulator that acts via the transmembrane domain , 2017, Neuropharmacology.

[25]  Christopher L. Wu,et al.  Postoperative Multimodal Analgesia Pain Management With Nonopioid Analgesics and Techniques: A Review , 2017, JAMA surgery.

[26]  Anup D. Patel,et al.  GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects , 2017, Journal of Medical Genetics.

[27]  Stephen F. Traynelis,et al.  Functional Evaluation of a De Novo GRIN2A Mutation Identified in a Patient with Profound Global Developmental Delay and Refractory Epilepsy , 2017, Molecular Pharmacology.

[28]  D. Collier,et al.  Epilepsy-associated GRIN2A mutations reduce NMDA receptor trafficking and agonist potency – molecular profiling and functional rescue , 2017, Scientific Reports.

[29]  Stephen F Traynelis,et al.  Mechanistic Insight into NMDA Receptor Dysregulation by Rare Variants in the GluN2A and GluN2B Agonist Binding Domains. , 2016, American journal of human genetics.

[30]  Scott J. Myers,et al.  Human GRIN2B variants in neurodevelopmental disorders , 2016, Journal of pharmacological sciences.

[31]  J. E. Huettner,et al.  Chimeric Glutamate Receptor Subunits Reveal the Transmembrane Domain Is Sufficient for NMDA Receptor Pore Properties but Some Positive Allosteric Modulators Require Additional Domains , 2016, The Journal of Neuroscience.

[32]  Y. Izumi,et al.  Endogenous 24S-hydroxycholesterol modulates NMDAR-mediated function in hippocampal slices. , 2016, Journal of neurophysiology.

[33]  Kenny Q. Ye,et al.  Low load for disruptive mutations in autism genes and their biased transmission , 2015, Proceedings of the National Academy of Sciences.

[34]  A. Jenkins,et al.  Ionotropic GABA and Glutamate Receptor Mutations and Human Neurologic Diseases , 2015, Molecular Pharmacology.

[35]  N. Burnashev,et al.  NMDA receptor subunit mutations in neurodevelopmental disorders. , 2015, Current opinion in pharmacology.

[36]  Hiro Furukawa,et al.  Crystal structure of a heterotetrameric NMDA receptor ion channel , 2014, Science.

[37]  Gabriel M. Belfort,et al.  The Major Brain Cholesterol Metabolite 24(S)-Hydroxycholesterol Is a Potent Allosteric Modulator of N-Methyl-d-Aspartate Receptors , 2013, The Journal of Neuroscience.

[38]  U. Stephani,et al.  Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes , 2013, Nature Genetics.

[39]  Jane S. Paulsen,et al.  Plasma 24S-hydroxycholesterol correlation with markers of Huntington disease progression , 2013, Neurobiology of Disease.

[40]  S. Traynelis,et al.  Structural Determinants of Agonist Efficacy at the Glutamate Binding Site of N-Methyl-d-Aspartate Receptors , 2013, Molecular Pharmacology.

[41]  S. Traynelis,et al.  Contribution of the M1 Transmembrane Helix and Pre-M1 Region to Positive Allosteric Modulation and Gating of N-Methyl-d-Aspartate Receptors , 2013, Molecular Pharmacology.

[42]  Bradley P. Coe,et al.  Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders , 2012, Science.

[43]  S. Traynelis,et al.  Molecular pharmacology of human NMDA receptors , 2012, Neurochemistry International.

[44]  Mira Park,et al.  Family based association of GRIN2A and GRIN2B with Korean autism spectrum disorders , 2012, Neuroscience Letters.

[45]  Bradley P. Coe,et al.  Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations , 2012, Nature.

[46]  S. Russek,et al.  A steroid modulatory domain in NR2A collaborates with NR1 exon‐5 to control NMDAR modulation by pregnenolone sulfate and protons , 2011, Journal of neurochemistry.

[47]  Edouard Henrion,et al.  A Population Genetic Approach to Mapping Neurological Disorder Genes Using Deep Resequencing , 2011, PLoS genetics.

[48]  R. Balice-Gordon,et al.  Clinical experience and laboratory investigations in patients with anti-NMDAR encephalitis , 2011, The Lancet Neurology.

[49]  C. Vite,et al.  Cholesterol Oxidation Products Are Sensitive and Specific Blood-Based Biomarkers for Niemann-Pick C1 Disease , 2010, Science Translational Medicine.

[50]  L. Wollmuth,et al.  Specific Sites within the Ligand-Binding Domain and Ion Channel Linkers Modulate NMDA Receptor Gating , 2010, The Journal of Neuroscience.

[51]  R. Dingledine,et al.  Glutamate Receptor Ion Channels: Structure, Regulation, and Function , 2010, Pharmacological Reviews.

[52]  Xiaoyu Peng,et al.  Cellular and Synaptic Mechanisms of Anti-NMDA Receptor Encephalitis , 2010, The Journal of Neuroscience.

[53]  E. Gouaux,et al.  X-ray structure, symmetry and mechanism of an AMPA-subtype glutamate receptor , 2009, Nature.

[54]  E. Benarroch,et al.  Neurosteroids: Endogenous modulators of neuronal excitability and plasticity , 2007, Neurology.

[55]  B. Dubrovsky Neurosteroids, neuroactive steroids, and symptoms of affective disorders , 2006, Pharmacology Biochemistry and Behavior.

[56]  M. Bullock,et al.  The effect of the selective NMDA receptor antagonist traxoprodil in the treatment of traumatic brain injury. , 2005, Journal of neurotrauma.

[57]  S. Dravid,et al.  Conserved Structural and Functional Control of N-Methyl-d-aspartate Receptor Gating by Transmembrane Domain M3* , 2005, Journal of Biological Chemistry.

[58]  L. Vyklický,et al.  Molecular Mechanism of Pregnenolone Sulfate Action at NR1/NR2B Receptors , 2004, The Journal of Neuroscience.

[59]  D. Standaert,et al.  Rationale for and use of NMDA receptor antagonists in Parkinson's disease. , 2004, Pharmacology & therapeutics.

[60]  J. Kornhuber,et al.  Memantine in moderate-to-severe Alzheimer's disease. , 2003, The New England journal of medicine.

[61]  K. S. Jones,et al.  The NMDA Receptor M3 Segment Is a Conserved Transduction Element Coupling Ligand Binding to Channel Opening , 2002, The Journal of Neuroscience.

[62]  D. Farb,et al.  Inhibition of the NMDA response by pregnenolone sulphate reveals subtype selective modulation of NMDA receptors by sulphated steroids , 2002, British journal of pharmacology.

[63]  G. Rumbaugh,et al.  Distinct effect of pregnenolone sulfate on NMDA receptor subtypes , 2001, Neuropharmacology.

[64]  D. Lütjohann,et al.  Oxysterols in the circulation of patients with the Smith-Lemli-Opitz syndrome: abnormal levels of 24S- and 27-hydroxycholesterol. , 2001, Journal of lipid research.

[65]  M. Le Moal,et al.  Neurosteroids in learning and memory processes. , 2001, International review of neurobiology.

[66]  John H Krystal,et al.  Antidepressant effects of ketamine in depressed patients , 2000, Biological Psychiatry.

[67]  Stephen F. Traynelis,et al.  Getting the most out of noise in the central nervous system , 1998, Trends in Neurosciences.

[68]  S. Nakanishi,et al.  Differential expression of five N‐methyl‐D‐aspartate receptor subunit mRNAs in the cerebellum of developing and adult rats , 1994, The Journal of comparative neurology.

[69]  S. Paul NEUROACTIVE STEROIDS , 1992, Pediatric Research.

[70]  H. Okayama,et al.  High-efficiency transformation of mammalian cells by plasmid DNA , 1987 .

[71]  S. Holm A Simple Sequentially Rejective Multiple Test Procedure , 1979 .