l-Serine dietary supplementation is associated with clinical improvement of loss-of-function GRIN2B-related pediatric encephalopathy
Published 2019 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
l-Serine dietary supplementation is associated with clinical improvement of loss-of-function GRIN2B-related pediatric encephalopathy
Authors
Keywords
-
Journal
Science Signaling
Volume 12, Issue 586, Pages eaaw0936
Publisher
American Association for the Advancement of Science (AAAS)
Online
2019-06-19
DOI
10.1126/scisignal.aaw0936
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Surface Expression, Function, and Pharmacology of Disease-Associated Mutations in the Membrane Domain of the Human GluN2B Subunit
- (2018) Vojtech Vyklicky et al. Frontiers in Molecular Neuroscience
- Metazoan evolution of glutamate receptors reveals unreported phylogenetic groups and divergent lineage-specific events
- (2018) David Ramos-Vicente et al. eLife
- GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects
- (2017) Konrad Platzer et al. JOURNAL OF MEDICAL GENETICS
- Whole exome sequencing of Rett syndrome-like patients reveals the mutational diversity of the clinical phenotype
- (2016) Mario Lucariello et al. HUMAN GENETICS
- A Molecular Determinant of Subtype-Specific Desensitization in Ionotropic Glutamate Receptors
- (2016) Matthew Alsaloum et al. JOURNAL OF NEUROSCIENCE
- Human GRIN2B variants in neurodevelopmental disorders
- (2016) Chun Hu et al. JOURNAL OF PHARMACOLOGICAL SCIENCES
- Annotation of the human cerebrospinal fluid lipidome using high resolution mass spectrometry and a dedicated data processing workflow
- (2016) Alexandre Seyer et al. Metabolomics
- Excitatory synapses are stronger in the hippocampus of Rett syndrome mice due to altered synaptic trafficking of AMPA-type glutamate receptors
- (2016) Wei Li et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- The Rise and Fall of the d -Serine-Mediated Gliotransmission Hypothesis
- (2016) Herman Wolosker et al. TRENDS IN NEUROSCIENCES
- Glutamate Synapses in Human Cognitive Disorders
- (2015) Lenora Volk et al. Annual Review of Neuroscience
- PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels
- (2015) Yongwook Choi et al. BIOINFORMATICS
- NMDA receptor subunit mutations in neurodevelopmental disorders
- (2015) Nail Burnashev et al. CURRENT OPINION IN PHARMACOLOGY
- d-Serine in the aging hippocampus
- (2015) Jean-Marie Billard JOURNAL OF PHARMACEUTICAL AND BIOMEDICAL ANALYSIS
- Behavioral and cognitive effects of the N-methyl-d-aspartate receptor co-agonist d-serine in healthy humans: Initial findings
- (2015) Raz Levin et al. JOURNAL OF PSYCHIATRIC RESEARCH
- The ImageJ ecosystem: An open platform for biomedical image analysis
- (2015) Johannes Schindelin et al. MOLECULAR REPRODUCTION AND DEVELOPMENT
- Controlling NMDA Receptor Subunit Composition Using Ectopic Retention Signals
- (2014) D. Stroebel et al. JOURNAL OF NEUROSCIENCE
- The Analysis of Eight Transcriptomes from All Poriferan Classes Reveals Surprising Genetic Complexity in Sponges
- (2014) Ana Riesgo et al. MOLECULAR BIOLOGY AND EVOLUTION
- MutationTaster2: mutation prediction for the deep-sequencing age
- (2014) Jana Marie Schwarz et al. NATURE METHODS
- Crystal structure of a heterotetrameric NMDA receptor ion channel
- (2014) E. Karakas et al. SCIENCE
- DYRK1A-mediated phosphorylation of GluN2A at Ser1048 regulates the surface expression and channel activity of GluN1/GluN2A receptors
- (2014) Cristina Grau et al. Frontiers in Cellular Neuroscience
- Human post-mortem synapse proteome integrity screening for proteomic studies of postsynaptic complexes
- (2014) Àlex Bayés et al. Molecular Brain
- GRIN2Bmutations in west syndrome and intellectual disability with focal epilepsy
- (2013) Johannes R. Lemke et al. ANNALS OF NEUROLOGY
- GROMACS 4.5: a high-throughput and highly parallel open source molecular simulation toolkit
- (2013) Sander Pronk et al. BIOINFORMATICS
- The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine
- (2013) Peter D. Stenson et al. HUMAN GENETICS
- An update on serine deficiency disorders
- (2013) S. N. van der Crabben et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Triheteromeric NMDA Receptors at Hippocampal Synapses
- (2013) K. R. Tovar et al. JOURNAL OF NEUROSCIENCE
- MEGA6: Molecular Evolutionary Genetics Analysis Version 6.0
- (2013) Koichiro Tamura et al. MOLECULAR BIOLOGY AND EVOLUTION
- NMDA receptor subunit diversity: impact on receptor properties, synaptic plasticity and disease
- (2013) Pierre Paoletti et al. NATURE REVIEWS NEUROSCIENCE
- ClinVar: public archive of relationships among sequence variation and human phenotype
- (2013) Melissa J. Landrum et al. NUCLEIC ACIDS RESEARCH
- Mechanisms of glycine release, which build up synaptic and extrasynaptic glycine levels: The role of synaptic and non-synaptic glycine transporters
- (2012) Laszlo G. Harsing et al. BRAIN RESEARCH BULLETIN
- Synaptic and Extrasynaptic NMDA Receptors Are Gated by Different Endogenous Coagonists
- (2012) Thomas Papouin et al. CELL
- Membrane Protein Simulations Using AMBER Force Field and Berger Lipid Parameters
- (2012) Arnau Cordomí et al. Journal of Chemical Theory and Computation
- Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations
- (2012) Brian J. O’Roak et al. NATURE
- Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability
- (2012) Joep de Ligt et al. NEW ENGLAND JOURNAL OF MEDICINE
- Predicting the Functional Effect of Amino Acid Substitutions and Indels
- (2012) Yongwook Choi et al. PLoS One
- MrBayes 3.2: Efficient Bayesian Phylogenetic Inference and Model Choice Across a Large Model Space
- (2012) Fredrik Ronquist et al. SYSTEMATIC BIOLOGY
- Excess of De Novo Deleterious Mutations in Genes Associated with Glutamatergic Systems in Nonsyndromic Intellectual Disability
- (2011) Fadi F. Hamdan et al. AMERICAN JOURNAL OF HUMAN GENETICS
- A sensitive and simple ultra-high-performance-liquid chromatography–tandem mass spectrometry based method for the quantification of d-amino acids in body fluids
- (2011) Wouter F. Visser et al. JOURNAL OF CHROMATOGRAPHY A
- Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations
- (2011) Brian J O'Roak et al. NATURE GENETICS
- Brain-specificPhgdhDeletion Reveals a Pivotal Role for l-Serine Biosynthesis in Controlling the Level of d-Serine, anN-methyl-d-aspartate Receptor Co-agonist, in Adult Brain
- (2010) Jung Hoon Yang et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Long-Term Potentiation-Dependent Spine Enlargement Requires Synaptic Ca2+-Permeable AMPA Receptors Recruited by CaM-Kinase I
- (2010) D. A. Fortin et al. JOURNAL OF NEUROSCIENCE
- Structural Determinants of D-Cycloserine Efficacy at the NR1/NR2C NMDA Receptors
- (2010) S. M. Dravid et al. JOURNAL OF NEUROSCIENCE
- Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes
- (2010) Sabine Endele et al. NATURE GENETICS
- Glutamate Receptor Ion Channels: Structure, Regulation, and Function
- (2010) S. F. Traynelis et al. PHARMACOLOGICAL REVIEWS
- Fast and accurate short read alignment with Burrows-Wheeler transform
- (2009) H. Li et al. BIOINFORMATICS
- Jalview Version 2--a multiple sequence alignment editor and analysis workbench
- (2009) A. M. Waterhouse et al. BIOINFORMATICS
- Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
- (2009) Prateek Kumar et al. Nature Protocols
- Reduced serine racemase expression contributes to age-related deficits in hippocampal cognitive function
- (2009) F.R. Turpin et al. NEUROBIOLOGY OF AGING
- Dendritic spine pathologies in hippocampal pyramidal neurons from Rett syndrome brain and after expression of Rett-associated MECP2 mutations
- (2009) Christopher A. Chapleau et al. NEUROBIOLOGY OF DISEASE
- SCWRL and MolIDE: computer programs for side-chain conformation prediction and homology modeling
- (2008) Qiang Wang et al. Nature Protocols
- Modulation of glycine potency in rat recombinant NMDA receptors containing chimeric NR2A/2D subunits expressed inXenopus laevisoocytes
- (2007) Philip E. Chen et al. JOURNAL OF PHYSIOLOGY-LONDON
Add your recorded webinar
Do you already have a recorded webinar? Grow your audience and get more views by easily listing your recording on Peeref.
Upload NowBecome a Peeref-certified reviewer
The Peeref Institute provides free reviewer training that teaches the core competencies of the academic peer review process.
Get Started