We are analyzing https://link.springer.com/chapter/10.1007/978-3-7091-0932-8_23.

Title:
Molecular and Cellular Aspects of Mental Retardation in the Fragile X Syndrome: From Gene Mutation/s to Spine Dysmorphogenesis | SpringerLink
Description:
The Fragile X syndrome (FXS) is the most frequent form of inherited mental retardation and also considered a monogenic cause of Autism Spectrum Disorder. FXS symptoms include neurodevelopmental delay, anxiety, hyperactivity, and autistic-like behavior. The disease is...
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Topics {✒️}

n-methyl-d-aspartate receptor-mediated neurotransmission phosphoinositide 3-kinase-akt-mammalian target chemically-induced long-term potentiation multi-domain ran-binding protein fragile-x-related proteins fxr1p reduced long-term potentiation spike-timing-dependent plasticity receptor-mediated signaling reduces long-term depression month download article/chapter modulates repeat-mediated neurodegeneration leverpress escape/avoidance task high-resolution x-ray drosophila mid-blastula transition fmr1 grey-zone allele long-term potentiation rna-binding protein abundant fragile-x-related proteins activity-regulated dynamic behavior attention-deficit/hyperactivity disorder metabotropic glutamate receptors activity-dependent regulation activity-dependent trafficking protein controls microtubule receptor subunit delta cerebellar tremor/ataxia syndrome altered synaptic plasticity defective gabaergic neurotransmission privacy choices/manage cookies altered mrna transport nmda receptor hypofunction elongation factor 2 open-label add n-terminal domain mglur-dependent localization sensorimotor gating abnormalities mental retardation protein mental-retardation protein age-dependent cognitive synaptic plasticity deficits device instant download g-protein signaling 4 inherited mental retardation improves behavioural performance rapamycin signaling pathway rapid spine delivery dendritic spine anomalies dendritic spine instability dendritic spine “dysgenesis” altered anxiety-related

Questions {❓}

Dissecting the behaviour of transgenic mice: Is it the mutation, the genetic background, or the environment?

Schema {🗺️}

ScholarlyArticle:
      headline:Molecular and Cellular Aspects of Mental Retardation in the Fragile X Syndrome: From Gene Mutation/s to Spine Dysmorphogenesis
      pageEnd:551
      pageStart:517
      image:https://media.springernature.com/w153/springer-static/cover/book/978-3-7091-0932-8.jpg
      genre:
         Biomedical and Life Sciences
         Biomedical and Life Sciences (R0)
      isPartOf:
         name:Synaptic Plasticity
         isbn:
            978-3-7091-0932-8
            978-3-7091-0931-1
         type:Book
      publisher:
         name:Springer Vienna
         logo:
            url:https://www.springernature.com/app-sn/public/images/logo-springernature.png
            type:ImageObject
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      author:
            name:Silvia De Rubeis
            affiliation:
                  name:Katholieke Universiteit Leuven
                  address:
                     name:Center for Human Genetics, Katholieke Universiteit Leuven, Leuven, Belgium
                     type:PostalAddress
                  type:Organization
                  name:Flanders Institute for Biotechnology (VIB)
                  address:
                     name:Center for the Biology of Disease, Flanders Institute for Biotechnology (VIB), Leuven, Belgium
                     type:PostalAddress
                  type:Organization
            type:Person
            name:Esperanza Fernández
            affiliation:
                  name:Katholieke Universiteit Leuven
                  address:
                     name:Center for Human Genetics, Katholieke Universiteit Leuven, Leuven, Belgium
                     type:PostalAddress
                  type:Organization
                  name:Flanders Institute for Biotechnology (VIB)
                  address:
                     name:Center for the Biology of Disease, Flanders Institute for Biotechnology (VIB), Leuven, Belgium
                     type:PostalAddress
                  type:Organization
            type:Person
            name:Andrea Buzzi
            affiliation:
                  name:Katholieke Universiteit Leuven
                  address:
                     name:Center for Human Genetics, Katholieke Universiteit Leuven, Leuven, Belgium
                     type:PostalAddress
                  type:Organization
                  name:Flanders Institute for Biotechnology (VIB)
                  address:
                     name:Center for the Biology of Disease, Flanders Institute for Biotechnology (VIB), Leuven, Belgium
                     type:PostalAddress
                  type:Organization
            type:Person
            name:Daniele Di Marino
            affiliation:
                  name:Katholieke Universiteit Leuven
                  address:
                     name:Center for Human Genetics, Katholieke Universiteit Leuven, Leuven, Belgium
                     type:PostalAddress
                  type:Organization
                  name:Flanders Institute for Biotechnology (VIB)
                  address:
                     name:Center for the Biology of Disease, Flanders Institute for Biotechnology (VIB), Leuven, Belgium
                     type:PostalAddress
                  type:Organization
            type:Person
            name:Claudia Bagni
            affiliation:
                  name:Katholieke Universiteit Leuven
                  address:
                     name:Center for Human Genetics, Katholieke Universiteit Leuven, Leuven, Belgium
                     type:PostalAddress
                  type:Organization
                  name:Flanders Institute for Biotechnology (VIB)
                  address:
                     name:Center for the Biology of Disease, Flanders Institute for Biotechnology (VIB), Leuven, Belgium
                     type:PostalAddress
                  type:Organization
                  name:University “Tor Vergata”
                  address:
                     name:Department of Experimental Medicine and Biochemical Sciences, University “Tor Vergata”, Rome, Italy
                     type:PostalAddress
                  type:Organization
            email:[email protected]
            type:Person
      keywords:FMR1, FMRP, Fragile X, Messenger ribonucleoparticles, Spinogenesis
      description:The Fragile X syndrome (FXS) is the most frequent form of inherited mental retardation and also considered a monogenic cause of Autism Spectrum Disorder. FXS symptoms include neurodevelopmental delay, anxiety, hyperactivity, and autistic-like behavior. The disease is due to mutations or loss of the Fragile X Mental Retardation Protein (FMRP), an RNA-binding protein abundant in the brain and gonads, the two organs mainly affected in FXS patients. FMRP has multiple functions in RNA metabolism, including mRNA decay, dendritic targeting of mRNAs, and protein synthesis. In neurons lacking FMRP, a wide array of mRNAs encoding proteins involved in synaptic structure and function are altered. As a result of this complex dysregulation, in the absence of FMRP, spine morphology and functioning is impaired. Consistently, model organisms for the study of the syndrome recapitulate the phenotype observed in FXS patients, such as dendritic spine anomalies and defects in learning. Here, we review the fundamentals of genetic and clinical aspects of FXS, devoting a specific attention to ASD comorbidity and FXS-related diseases. We also review the current knowledge on FMRP functions through structural, molecular, and cellular findings. Finally, we discuss the neuroanatomical, electrophysiological, and behavioral defects caused by FMRP loss, as well as the current treatments able to partially revert some of the FXS abnormalities.
      datePublished:2012
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Book:
      name:Synaptic Plasticity
      isbn:
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         978-3-7091-0931-1
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      name:Springer Vienna
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         url:https://www.springernature.com/app-sn/public/images/logo-springernature.png
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      name:Katholieke Universiteit Leuven
      address:
         name:Center for Human Genetics, Katholieke Universiteit Leuven, Leuven, Belgium
         type:PostalAddress
      name:Flanders Institute for Biotechnology (VIB)
      address:
         name:Center for the Biology of Disease, Flanders Institute for Biotechnology (VIB), Leuven, Belgium
         type:PostalAddress
      name:Katholieke Universiteit Leuven
      address:
         name:Center for Human Genetics, Katholieke Universiteit Leuven, Leuven, Belgium
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      name:Flanders Institute for Biotechnology (VIB)
      address:
         name:Center for the Biology of Disease, Flanders Institute for Biotechnology (VIB), Leuven, Belgium
         type:PostalAddress
      name:Katholieke Universiteit Leuven
      address:
         name:Center for Human Genetics, Katholieke Universiteit Leuven, Leuven, Belgium
         type:PostalAddress
      name:Flanders Institute for Biotechnology (VIB)
      address:
         name:Center for the Biology of Disease, Flanders Institute for Biotechnology (VIB), Leuven, Belgium
         type:PostalAddress
      name:Katholieke Universiteit Leuven
      address:
         name:Center for Human Genetics, Katholieke Universiteit Leuven, Leuven, Belgium
         type:PostalAddress
      name:Flanders Institute for Biotechnology (VIB)
      address:
         name:Center for the Biology of Disease, Flanders Institute for Biotechnology (VIB), Leuven, Belgium
         type:PostalAddress
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      address:
         name:Department of Experimental Medicine and Biochemical Sciences, University “Tor Vergata”, Rome, Italy
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Person:
      name:Silvia De Rubeis
      affiliation:
            name:Katholieke Universiteit Leuven
            address:
               name:Center for Human Genetics, Katholieke Universiteit Leuven, Leuven, Belgium
               type:PostalAddress
            type:Organization
            name:Flanders Institute for Biotechnology (VIB)
            address:
               name:Center for the Biology of Disease, Flanders Institute for Biotechnology (VIB), Leuven, Belgium
               type:PostalAddress
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      name:Esperanza Fernández
      affiliation:
            name:Katholieke Universiteit Leuven
            address:
               name:Center for Human Genetics, Katholieke Universiteit Leuven, Leuven, Belgium
               type:PostalAddress
            type:Organization
            name:Flanders Institute for Biotechnology (VIB)
            address:
               name:Center for the Biology of Disease, Flanders Institute for Biotechnology (VIB), Leuven, Belgium
               type:PostalAddress
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      name:Andrea Buzzi
      affiliation:
            name:Katholieke Universiteit Leuven
            address:
               name:Center for Human Genetics, Katholieke Universiteit Leuven, Leuven, Belgium
               type:PostalAddress
            type:Organization
            name:Flanders Institute for Biotechnology (VIB)
            address:
               name:Center for the Biology of Disease, Flanders Institute for Biotechnology (VIB), Leuven, Belgium
               type:PostalAddress
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      name:Daniele Di Marino
      affiliation:
            name:Katholieke Universiteit Leuven
            address:
               name:Center for Human Genetics, Katholieke Universiteit Leuven, Leuven, Belgium
               type:PostalAddress
            type:Organization
            name:Flanders Institute for Biotechnology (VIB)
            address:
               name:Center for the Biology of Disease, Flanders Institute for Biotechnology (VIB), Leuven, Belgium
               type:PostalAddress
            type:Organization
      name:Claudia Bagni
      affiliation:
            name:Katholieke Universiteit Leuven
            address:
               name:Center for Human Genetics, Katholieke Universiteit Leuven, Leuven, Belgium
               type:PostalAddress
            type:Organization
            name:Flanders Institute for Biotechnology (VIB)
            address:
               name:Center for the Biology of Disease, Flanders Institute for Biotechnology (VIB), Leuven, Belgium
               type:PostalAddress
            type:Organization
            name:University “Tor Vergata”
            address:
               name:Department of Experimental Medicine and Biochemical Sciences, University “Tor Vergata”, Rome, Italy
               type:PostalAddress
            type:Organization
      email:[email protected]
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      name:Center for Human Genetics, Katholieke Universiteit Leuven, Leuven, Belgium
      name:Center for the Biology of Disease, Flanders Institute for Biotechnology (VIB), Leuven, Belgium
      name:Center for Human Genetics, Katholieke Universiteit Leuven, Leuven, Belgium
      name:Center for the Biology of Disease, Flanders Institute for Biotechnology (VIB), Leuven, Belgium
      name:Center for Human Genetics, Katholieke Universiteit Leuven, Leuven, Belgium
      name:Center for the Biology of Disease, Flanders Institute for Biotechnology (VIB), Leuven, Belgium
      name:Center for Human Genetics, Katholieke Universiteit Leuven, Leuven, Belgium
      name:Center for the Biology of Disease, Flanders Institute for Biotechnology (VIB), Leuven, Belgium
      name:Center for Human Genetics, Katholieke Universiteit Leuven, Leuven, Belgium
      name:Center for the Biology of Disease, Flanders Institute for Biotechnology (VIB), Leuven, Belgium
      name:Department of Experimental Medicine and Biochemical Sciences, University “Tor Vergata”, Rome, Italy
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