Pathogenic SYNGAP1 Mutations Impair Cognitive Development by Disrupting Maturation of Dendritic Spine Synapses

Clement, James P., Aceti, Massimiliano, Creson, Thomas K., Ozkan, Emin D., Shi, Yulin, Reish, Nicholas J., Almonte, Antoine G., Miller, Brooke H. +4 more·2012·Cell

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  3. Novel variants of SYNGAP1 associated epileptic encephalopathy: two cases report and literature review
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  4. A consequence of immature breathing induces persistent changes in hippocampal synaptic plasticity and behavior: a role of prooxidant state and NMDA receptor imbalance
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  5. Analysis of retrospective natural history data collected from patients with SYNGAP1-related disorders: a preliminary examination of the Citizen database
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  6. De novo frameshift mutation in SYNGAP1 resulting in autosomal dominant mental retardation type 5 and autism spectrum disorder: a case report
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  7. Genetics of Autism Spectrum Disorder underscores the role of altered spontaneous neuronal activity as a catalyst for the neurodevelopmental anomalies
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  8. A clinical case of SYNGAP1, с2214_2217delTGAG de novo gene mutations in a girl with epilepsy, mental retardation, autism, and movement disorders
    Mariya Yu. Bobylova, Mikhail Borisovich Mironov, A.V. Kulikov, М. В. Казакова, Богачева, Yu.A. Tankevich, L. Yu. Glukhova, Е. И. Барлетова, M. O. Abramov, К. Yu. Мukhin et al. · 2014 · Neurology neuropsychiatry Psychosomatics
  9. A clinical case of SYNGAP1-associated encephalopathy in a girl with epilepsy, intellectual disability, and autism
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  10. Nature and Nurture Converge in the Nucleus to Regulate Activity-Dependent Neuronal Development
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  12. SYNGAP1: The Gene and Syndrome
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  13. Metabolic Association Between the Gut–Brain Axis in Autism Spectrum Disorders
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  14. Demystifying neuroscience laboratory techniques used to investigate single-gene disorders
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  15. SYNGAP1 mutation in a pediatric patient with autism spectrum disorder and intellectual disability
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  16. Specific Functions of ERK/MAPK Signaling in Brain Development and Neurocognition
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  17. GABAergic signaling promotes early-life seizures in epileptic SYNGAP1 +/- mice
    Brennan J. Sullivan, Pavel A. Kipnis, Simon G. Ammanuel, Shilpa D. Kadam · 2020 · bioRxiv (Cold Spring Harbor Laboratory)
  18. Reversing GABA polarity corrects synaptic physiology and behavioural deficits in young adolescent Syngap1+/- mice
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  19. Synaptic Disorders
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  20. Hyperexcitability and translational phenotypes in a preclinical model of SYNGAP1 mutations
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  21. Behavioural and neurodevelopmental characteristics of SYNGAP1
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  22. Epigenetic Modulation to perturb the SYNGAP1 Intellectual Disability (ID) that ameliorates synaptic and behavioural deficits
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  23. Syngap1 regulates the synaptic drive and membrane excitability of Parvalbumin-positive interneurons in mouse auditory cortex
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  24. Syngap1 regulates the synaptic drive and membrane excitability of Parvalbumin-positive interneurons in mouse auditory cortex
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  25. Intrabody-guided synapse proteomics defines pyramidal neuron input architecture and uncovers early remodeling in a mouse model of Alzheimer’s disease
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  27. Synaptic networks shape clinical phenotypes in neurodevelopmental disorders: An integrative clinical, genetic and biological perspective
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  28. Concordant transcriptional and morphological remodeling revealed by in vivo Perturb-CLEAR
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  29. A CLINICAL CASE OF SYNGAP1 GENE MUTATION IN A GIRL WITH EPILEPSY, MENTAL RETARDATION, AUTISM, AND MOTOR DISORDERS
    Mariya Yu. Bobylova, M. B. Mironov, M. O. Abramov, Anatoly Kulikov, М. В. Казакова, L. Yu. Glukhova, Е. И. Барлетова, К. Yu. Мukhin · 2015 · Russian Journal of Child Neurology
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    São Paulo · 2013
  31. Changes in Synaptic Protein Content and Signaling in a Mouse Model of Fragile X Syndrome
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    Luke A. D. Bury · 2015 · OhioLink ETD Center (Ohio Library and Information Network)
  33. Characteristics of cellular and synaptic function in rodent forebrain neurons with altered SynGAP expression
    Lindsay A. M. Mizen · 2018 · ERA
  34. An analysis of genetic variants associated with autism spectrum disorder
    Daniel B. Callaghan · 2018 · cIRcle (University of British Columbia)
  35. Translational regulation of Syngap1 by FMRP modulates NMDAR mediated signalling
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  36. Genetic Mutations Associated with Autism Disrupt Higher Visual Cortical Area Development and Function in Mice
    Townsend, Leah · 2019 · Carolina Digital Repository (University of North Carolina at Chapel Hill)
  37. Splicing of the SynGAP Carboxyl-Terminus Enables Isoform-Specific Tuning of NMDA Receptor Signaling Linked to Cognitive Function
    Murat Kılınç, Thomas K. Creson, Camilo Rojas, Sabyasachi Maity, Aliza A. Le, Julie C. Lauterborn, Brent Wilkinson, Nicolas G. Hartel, Nicholas Alexander Graham, Adrian M. Reich et al. · 2020 · bioRxiv (Cold Spring Harbor Laboratory)
  38. Age and neuroinflammation are important components of the mechanism of cognitive and neurobehavioral deficits in sickle cell disease
    Raven A. Hardy, Noor Abi Rached, Jayre A. Jones, David R. Archer, Hyacinth I. Hyacinth · 2020 · bioRxiv (Cold Spring Harbor Laboratory)
  39. Syngap1 Dynamically Regulates the Fine-Scale Reorganization of Cortical Circuits in Response to Sensory Experience
    Nerea Llamosas, Thomas Vaissière, Camilo Rojas, Sheldon D. Michaelson, Courtney A. Miller, Gavin Rumbaugh · 2020 · bioRxiv (Cold Spring Harbor Laboratory)
  40. Protein-protein Interactions Provide a Platform for G-protein-coupled Receptors to Exert Physiological and Pathological Functions in Central Nervous System: Therapeutic Potential?
    Terence K.Y. Lai · 2019 · TSpace (University of Toronto)
  41. SYNGAP1 and Its Related Epileptic Syndromes
    Maria Teresa Garozzo, Daniela Caruso, Flavia Mendola, Alessandra Di Nora, Katia Romano, Roberta Leonardi, Raffaele Falsaperla, Antonio Zanghì, Andrea D. Praticò · 2021 · Journal of Pediatric Neurology
  42. c-Jun NH2-terminal kinase signaling controls cellular mechanisms of guided cortical interneuron migration
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  43. When neurons mature too early
    2012 · Nature
  44. Excessive Cap-dependent Translation as a Molecular Mechanism Underlying ASD
    Eric Klann · 2014 · Defense Technical Information Center (DTIC)
  45. Faculty Opinions recommendation of Rapid dispersion of SynGAP from synaptic spines triggers AMPA receptor insertion and spine enlargement during LTP.
    Johannes Wilhelm Hell · 2015 · Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature
  46. Functional Roles of Syngap1 in Early Embryonic Development of Zebrafish
    Bing Zou · 2014
  47. Adult Camk2a Gene Reinstatement Restores the Learning and Plasticity Deficits of Camk2a Knockout Mice
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  48. Interneuron-targeted disruption of SYNGAP1 alters sensory representations in neocortex and impairs sensory learning
    Meiling Zhao, Sung Eun Kwon · 2022 · bioRxiv (Cold Spring Harbor Laboratory)
  49. Epigenomic tomography for probing spatially-defined molecular state in the brain
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  50. Elucidating the molecular pathology of DEPDC5 mutation induced mTOR-hyperactivation associated with epilepsy and autism spectrum disorder
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  51. A Consequence of Immature Breathing induces Persistent Changes in Hippocampal Synaptic Plasticity and Behavior: A Role of Pro-Oxidant State and NMDA Receptor Imbalance
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  62. Additional file 6 of Enhanced hippocampal LTP but normal NMDA receptor and AMPA receptor function in a rat model of CDKL5 deficiency disorder
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  63. Additional file 5 of Enhanced hippocampal LTP but normal NMDA receptor and AMPA receptor function in a rat model of CDKL5 deficiency disorder
    Laura Simões de Oliveira, Heather O’Leary, Nawaz, Sarfaraz, Rita M. Loureiro, Elizabeth C. Davenport, Paul S. Baxter, Susana R. Louros, Owen Dando, Perkins, Emma, Julien Peltier et al. · 2024 · Figshare
  64. Additional file 1 of Enhanced hippocampal LTP but normal NMDA receptor and AMPA receptor function in a rat model of CDKL5 deficiency disorder
    Laura Simões de Oliveira, Heather O’Leary, Nawaz, Sarfaraz, Rita M. Loureiro, Elizabeth C. Davenport, Paul S. Baxter, Susana R. Louros, Owen Dando, Perkins, Emma, Julien Peltier et al. · 2024 · Figshare
  65. Additional file 2 of Enhanced hippocampal LTP but normal NMDA receptor and AMPA receptor function in a rat model of CDKL5 deficiency disorder
    Laura Simões de Oliveira, Heather O’Leary, Nawaz, Sarfaraz, Rita M. Loureiro, Elizabeth C. Davenport, Paul S. Baxter, Susana R. Louros, Owen Dando, Perkins, Emma, Julien Peltier et al. · 2024 · Figshare
  66. Additional file 4 of Enhanced hippocampal LTP but normal NMDA receptor and AMPA receptor function in a rat model of CDKL5 deficiency disorder
    Laura Simões de Oliveira, Heather O’Leary, Nawaz, Sarfaraz, Rita M. Loureiro, Elizabeth C. Davenport, Paul S. Baxter, Susana R. Louros, Owen Dando, Perkins, Emma, Julien Peltier et al. · 2024 · Figshare
  67. Additional file 3 of Enhanced hippocampal LTP but normal NMDA receptor and AMPA receptor function in a rat model of CDKL5 deficiency disorder
    Laura Simões de Oliveira, Heather O’Leary, Nawaz, Sarfaraz, Rita M. Loureiro, Elizabeth C. Davenport, Paul S. Baxter, Susana R. Louros, Owen Dando, Perkins, Emma, Julien Peltier et al. · 2024 · Figshare
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