标题
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders
作者
关键词
-
出版物
Nature Communications
Volume 10, Issue 1, Pages -
出版商
Springer Science and Business Media LLC
发表日期
2019-07-12
DOI
10.1038/s41467-019-10910-w
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- The antidepressant tianeptine reverts synaptic AMPA receptor defects caused by deficiency of CDKL5
- (2018) Marco Tramarin et al. HUMAN MOLECULAR GENETICS
- De novo variants in neurodevelopmental disorders with epilepsy
- (2018) Henrike O. Heyne et al. NATURE GENETICS
- An interactome perturbation framework prioritizes damaging missense mutations for developmental disorders
- (2018) Siwei Chen et al. NATURE GENETICS
- Monogenic disorders that mimic the phenotype of Rett syndrome
- (2018) Siddharth Srivastava et al. NEUROGENETICS
- Functional changes of AMPA responses in human induced pluripotent stem cell–derived neural progenitors in fragile X syndrome
- (2018) Venkat Swaroop Achuta et al. Science Signaling
- Postsynaptic RIM1 modulates synaptic function by facilitating membrane delivery of recycling NMDARs in hippocampal neurons
- (2018) Jiejie Wang et al. Nature Communications
- Functional changes of AMPA responses in human induced pluripotent stem cell–derived neural progenitors in fragile X syndrome
- (2018) Venkat Swaroop Achuta et al. Science Signaling
- Mechanisms of Channel Block in Calcium-Permeable AMPA Receptors
- (2018) Edward C. Twomey et al. NEURON
- ILAE classification of the epilepsies: Position paper of the ILAE Commission for Classification and Terminology
- (2017) Ingrid E. Scheffer et al. EPILEPSIA
- A point mutation in the ion conduction pore of AMPA receptor GRIA3 causes dramatically perturbed sleep patterns as well as intellectual disability
- (2017) Benjamin Davies et al. HUMAN MOLECULAR GENETICS
- Channel opening and gating mechanism in AMPA-subtype glutamate receptors
- (2017) Edward C. Twomey et al. NATURE
- Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains
- (2017) Madeleine R Geisheker et al. NATURE NEUROSCIENCE
- Mechanism of partial agonism in AMPA-type glutamate receptors
- (2017) Hector Salazar et al. Nature Communications
- Autism-like behaviours and enhanced memory formation and synaptic plasticity in Lrfn2/SALM1-deficient mice
- (2017) Naoko Morimura et al. Nature Communications
- AMPA-receptor specific biogenesis complexes control synaptic transmission and intellectual ability
- (2017) Aline Brechet et al. Nature Communications
- An autism spectrum disorder-related de novo mutation hotspot discovered in the GEF1 domain of Trio
- (2017) Anastasiia Sadybekov et al. Nature Communications
- The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome
- (2017) Silvia Vidal et al. Scientific Reports
- Analysis of protein-coding genetic variation in 60,706 humans
- (2016) Monkol Lek et al. NATURE
- Elucidation of AMPA receptor-stargazin complexes by cryo-electron microscopy
- (2016) E. C. Twomey et al. SCIENCE
- De novo genic mutations among a Chinese autism spectrum disorder cohort
- (2016) Tianyun Wang et al. Nature Communications
- Misregulation of Alternative Splicing in a Mouse Model of Rett Syndrome
- (2016) Ronghui Li et al. PLoS Genetics
- Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss
- (2015) Akemi J. Tanaka et al. AMERICAN JOURNAL OF HUMAN GENETICS
- MECP2 disorders: from the clinic to mice and back
- (2015) Laura Marie Lombardi et al. JOURNAL OF CLINICAL INVESTIGATION
- Genetic studies in intellectual disability and related disorders
- (2015) Lisenka E. L. M. Vissers et al. NATURE REVIEWS GENETICS
- GRID2 mutations span from congenital to mild adult-onset cerebellar ataxia
- (2015) M. Coutelier et al. NEUROLOGY
- Structural mechanism of glutamate receptor activation and desensitization
- (2014) Joel R. Meyerson et al. NATURE
- GROMACS 4.5: a high-throughput and highly parallel open source molecular simulation toolkit
- (2013) Sander Pronk et al. BIOINFORMATICS
- Structure and gating of tetrameric glutamate receptors
- (2013) Alexander I. Sobolevsky JOURNAL OF PHYSIOLOGY-LONDON
- Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes
- (2013) Johannes R Lemke et al. NATURE GENETICS
- GRIN2A mutations cause epilepsy-aphasia spectrum disorders
- (2013) Gemma L Carvill et al. NATURE GENETICS
- Partial deletion of GLRB and GRIA2 in a patient with intellectual disability
- (2012) Karl Hackmann et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome
- (2012) Gijs W E Santen et al. NATURE GENETICS
- 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
- Dynamics and allosteric potential of the AMPA receptor N-terminal domain
- (2011) Madhav Sukumaran et al. EMBO JOURNAL
- Ca2+permeable AMPA receptors switch allegiances: mechanisms and consequences
- (2011) Siqiong June Liu et al. JOURNAL OF PHYSIOLOGY-LONDON
- Predicting sites of ADAR editing in double-stranded RNA
- (2011) Julie M. Eggington et al. Nature Communications
- Features and development ofCoot
- (2010) P. Emsley et al. ACTA CRYSTALLOGRAPHICA SECTION D-BIOLOGICAL CRYSTALLOGRAPHY
- Rett syndrome: Revised diagnostic criteria and nomenclature
- (2010) Jeffrey L. Neul et al. ANNALS OF NEUROLOGY
- ADAR2-dependent RNA editing of GluR2 is involved in thiamine deficiency-induced alteration of calcium dynamics
- (2010) Shuchen Lee et al. Molecular Neurodegeneration
- 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
- DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources
- (2009) Helen V. Firth et al. AMERICAN JOURNAL OF HUMAN GENETICS
- X-ray structure, symmetry and mechanism of an AMPA-subtype glutamate receptor
- (2009) Alexander I. Sobolevsky et al. NATURE
- Ca2+ Permeable AMPA Receptor Induced Long-Term Potentiation Requires PI3/MAP Kinases but Not Ca/CaM-Dependent Kinase II
- (2009) Suhail Asrar et al. PLoS One
- P-LINCS: A Parallel Linear Constraint Solver for Molecular Simulation
- (2007) Berk Hess Journal of Chemical Theory and Computation
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