Mouse models of the fragile X premutation and fragile X-associated tremor/ataxia syndrome View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2014-12

AUTHORS

Robert F Berman, Ronald AM Buijsen, Karen Usdin, Elizabeth Pintado, Frank Kooy, Dalyir Pretto, Isaac N Pessah, David L Nelson, Zachary Zalewski, Nicholas Charlet-Bergeurand, Rob Willemsen, Renate K Hukema

ABSTRACT

Carriers of the fragile X premutation (FPM) have CGG trinucleotide repeat expansions of between 55 and 200 in the 5'-UTR of FMR1, compared to a CGG repeat length of between 5 and 54 for the general population. Carriers were once thought to be without symptoms, but it is now recognized that they can develop a variety of early neurological symptoms as well as being at risk for developing the late onset neurodegenerative disorder fragile X-associated tremor/ataxia syndrome (FXTAS). Several mouse models have contributed to our understanding of FPM and FXTAS, and findings from studies using these models are summarized here. This review also discusses how this information is improving our understanding of the molecular and cellular abnormalities that contribute to neurobehavioral features seen in some FPM carriers and in patients with FXTAS. Mouse models show much of the pathology seen in FPM carriers and in individuals with FXTAS, including the presence of elevated levels of Fmr1 mRNA, decreased levels of fragile X mental retardation protein, and ubiquitin-positive intranuclear inclusions. Abnormalities in dendritic spine morphology in several brain regions are associated with neurocognitive deficits in spatial and temporal memory processes, impaired motor performance, and altered anxiety. In vitro studies have identified altered dendritic and synaptic architecture associated with abnormal Ca(2+) dynamics and electrical network activity. FPM mice have been particularly useful in understanding the roles of Fmr1 mRNA, fragile X mental retardation protein, and translation of a potentially toxic polyglycine peptide in pathology. Finally, the potential for using these and emerging mouse models for preclinical development of therapies to improve neurological function in FXTAS is considered. More... »

PAGES

25

References to SciGraph publications

  • 2013-12. FMR1 CGG allele size and prevalence ascertained through newborn screening in the United States in GENOME MEDICINE
  • 2008. Isolation of Pathology-Associated Intranuclear Inclusions in THE NUCLEUS
  • 2009-10. Penetrance of FMR1 premutation associated pathologies in fragile X syndrome families in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2005-08. Telomeres and human disease: ageing, cancer and beyond in NATURE REVIEWS GENETICS
  • 2011-10. Widespread non-central nervous system organ pathology in fragile X premutation carriers with fragile X-associated tremor/ataxia syndrome and CGG knock-in mice in ACTA NEUROPATHOLOGICA
  • 2011-01. FMR1 premutation carrier frequency in patients undergoing routine population-based carrier screening: Insights into the prevalence of fragile X syndrome, fragile X-associated tremor/ataxia syndrome, and fragile X-associated primary ovarian insufficiency in the United States in GENETICS IN MEDICINE
  • 2012. Mouse Models of the Fragile X Premutation and the Fragile X Associated Tremor/Ataxia Syndrome in MODELING FRAGILE X SYNDROME
  • 2008-06. Altered brain microRNA biogenesis contributes to phenotypic deficits in a 22q11-deletion mouse model in NATURE GENETICS
  • 2010. Animal Models for FXTAS in THE FRAGILE X-ASSOCIATED TREMOR ATAXIA SYNDROME (FXTAS)
  • 2010-11. Autoimmune disease in mothers with the FMR1 premutation is associated with seizures in their children with fragile X syndrome in HUMAN GENETICS
  • 1993-07. Human and murine FMR-1: alternative splicing and translational initiation downstream of the CGG–repeat in NATURE GENETICS
  • 2001-02. Neurons derived from radial glial cells establish radial units in neocortex in NATURE
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1186/1866-1955-6-25

    DOI

    http://dx.doi.org/10.1186/1866-1955-6-25

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1021677191

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/25136376


    Indexing Status Check whether this publication has been indexed by Scopus and Web Of Science using the SN Indexing Status Tool
    Incoming Citations Browse incoming citations for this publication using opencitations.net

    JSON-LD is the canonical representation for SciGraph data.

    TIP: You can open this SciGraph record using an external JSON-LD service: JSON-LD Playground Google SDTT

    [
      {
        "@context": "https://springernature.github.io/scigraph/jsonld/sgcontext.json", 
        "about": [
          {
            "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/1109", 
            "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
            "name": "Neurosciences", 
            "type": "DefinedTerm"
          }, 
          {
            "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/11", 
            "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
            "name": "Medical and Health Sciences", 
            "type": "DefinedTerm"
          }
        ], 
        "author": [
          {
            "affiliation": {
              "alternateName": "University of California, Davis", 
              "id": "https://www.grid.ac/institutes/grid.27860.3b", 
              "name": [
                "Department of Neurological Surgery, Room 502C, UC Davis, 1515 Newton Court, 95618, Davis, CA, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Berman", 
            "givenName": "Robert F", 
            "id": "sg:person.0623340447.86", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0623340447.86"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Erasmus University Medical Center", 
              "id": "https://www.grid.ac/institutes/grid.5645.2", 
              "name": [
                "Department Clinical Genetics, Erasmus MC, Rotterdam, Netherlands"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Buijsen", 
            "givenName": "Ronald AM", 
            "id": "sg:person.01262135712.44", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01262135712.44"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "National Institute of Diabetes and Digestive and Kidney Diseases", 
              "id": "https://www.grid.ac/institutes/grid.419635.c", 
              "name": [
                "NIDDK, National Institutes of Health, Bethesda, MD, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Usdin", 
            "givenName": "Karen", 
            "id": "sg:person.0716166105.39", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0716166105.39"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "University of Seville", 
              "id": "https://www.grid.ac/institutes/grid.9224.d", 
              "name": [
                "University of Seville, School of Medicine, Seville, Spain"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Pintado", 
            "givenName": "Elizabeth", 
            "id": "sg:person.01137302273.11", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01137302273.11"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "University of Antwerp", 
              "id": "https://www.grid.ac/institutes/grid.5284.b", 
              "name": [
                "Department of Medical Genetics, University of Antwerp, Antwerp, Belgium"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Kooy", 
            "givenName": "Frank", 
            "id": "sg:person.01257573777.59", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01257573777.59"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "University of California, Davis", 
              "id": "https://www.grid.ac/institutes/grid.27860.3b", 
              "name": [
                "UC Davis M.I.N.D. Institute, Sacramento, CA, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Pretto", 
            "givenName": "Dalyir", 
            "id": "sg:person.011323127347.22", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.011323127347.22"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "University of California, Davis", 
              "id": "https://www.grid.ac/institutes/grid.27860.3b", 
              "name": [
                "Department Molecular Biosciences, UC Davis, Davis, CA, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Pessah", 
            "givenName": "Isaac N", 
            "id": "sg:person.0755701527.11", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0755701527.11"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Baylor College of Medicine", 
              "id": "https://www.grid.ac/institutes/grid.39382.33", 
              "name": [
                "Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Nelson", 
            "givenName": "David L", 
            "id": "sg:person.0646722553.41", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0646722553.41"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Baylor College of Medicine", 
              "id": "https://www.grid.ac/institutes/grid.39382.33", 
              "name": [
                "Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Zalewski", 
            "givenName": "Zachary", 
            "id": "sg:person.0764455006.25", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0764455006.25"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Institute of Genetics and Molecular and Cellular Biology", 
              "id": "https://www.grid.ac/institutes/grid.420255.4", 
              "name": [
                "Department of Translational Medicine, IGBMC, Illkirch, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Charlet-Bergeurand", 
            "givenName": "Nicholas", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Erasmus University Medical Center", 
              "id": "https://www.grid.ac/institutes/grid.5645.2", 
              "name": [
                "Department Clinical Genetics, Erasmus MC, Rotterdam, Netherlands"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Willemsen", 
            "givenName": "Rob", 
            "id": "sg:person.01031667437.50", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01031667437.50"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Erasmus University Medical Center", 
              "id": "https://www.grid.ac/institutes/grid.5645.2", 
              "name": [
                "Department Clinical Genetics, Erasmus MC, Rotterdam, Netherlands"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Hukema", 
            "givenName": "Renate K", 
            "id": "sg:person.01246225123.37", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01246225123.37"
            ], 
            "type": "Person"
          }
        ], 
        "citation": [
          {
            "id": "https://doi.org/10.1111/gbb.12061", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1001297274"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1093/hmg/ddp479", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1001320803"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1093/hmg/ddp479", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1001320803"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/s0896-6273(03)00533-6", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1001418916"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/ajmg.10500", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1002523528"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1128/mcb.01676-12", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1002622065"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.neuron.2013.03.026", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1002625980"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/mds.21493", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1002654483"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1186/gm401", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1003237426", 
              "https://doi.org/10.1186/gm401"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1111/j.1471-4159.2012.07936.x", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1003585391"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/ajmg.1320410306", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1004006242"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/ajmg.1320410306", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1004006242"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/s1474-4422(13)70125-x", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1004321855"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng.138", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1004555914", 
              "https://doi.org/10.1038/ng.138"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1001/jamaneurol.2013.2934", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1004853175"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nrg1656", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1005939469", 
              "https://doi.org/10.1038/nrg1656"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nrg1656", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1005939469", 
              "https://doi.org/10.1038/nrg1656"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1093/hmg/ddp182", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1007260723"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1093/hmg/ddp182", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1007260723"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1073/pnas.0712197105", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1007700367"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1371/journal.pgen.1002681", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1007968643"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1084/jem.20070823", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1008045185"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1097/gim.0b013e3181fa9fad", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1008353748", 
              "https://doi.org/10.1097/gim.0b013e3181fa9fad"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1097/gim.0b013e3181fa9fad", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1008353748", 
              "https://doi.org/10.1097/gim.0b013e3181fa9fad"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1371/journal.pone.0058296", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1008412008"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/ajmg.b.30183", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1009941845"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/ajmg.b.30183", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1009941845"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1111/j.1399-0004.2011.01723.x", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1009944924"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1093/hmg/5.1.95", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1010443636"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.febslet.2005.04.004", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1010692240"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1073/pnas.90.6.2375", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1011065292"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/ajmg.a.32342", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1011743799"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.brainres.2009.12.077", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1013099163"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1093/hmg/10.14.1449", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1013554493"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/mds.23646", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1014097063"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1073/pnas.1013343108", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1014312501"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/ajmg.b.20030", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1014465012"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1136/jmg.2003.012518", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1014762822"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.nbd.2011.01.008", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1014819184"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1093/hmg/9.8.1145", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1015749781"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.celrep.2013.02.004", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1015807359"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.brainres.2008.11.075", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1016081427"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/humu.22177", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1016531107"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.gene.2007.02.026", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1016798403"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1097/00004703-200604002-00012", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1018341774"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1097/00004703-200604002-00012", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1018341774"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1093/hmg/ddg114", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1019701951"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1074/jbc.m513511200", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1019831522"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.nlm.2011.12.006", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1020427269"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.2217/fnl.09.44", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1020915606"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1523/jneurosci.0828-08.2008", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1021456084"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1093/brain/awh650", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1022182101"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1093/brain/awh650", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1022182101"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1093/hmg/dds118", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1022847934"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1093/hmg/ddu032", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1023055074"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1093/brain/awh683", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1023401972"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1523/jneurosci.2899-04.2005", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1023749909"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1073/pnas.1101219108", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1024418227"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1352/0895-8017(2004)109<154:aiiwtf>2.0.co;2", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1024635463"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1111/j.1471-4159.2008.05747.x", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1025009110"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1093/brain/awf184", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1027777625"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/1096-8628(20010115)98:2<161::aid-ajmg1025>3.0.co;2-b", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1028103859"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1093/hmg/dds525", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1028285210"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1093/hmg/ddr327", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1029151849"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/hipo.22043", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1029224432"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/ajmg.a.36241", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1029280994"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng0793-244", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1029400780", 
              "https://doi.org/10.1038/ng0793-244"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1074/jbc.m101219200", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1029622357"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.neuron.2007.07.021", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1029951739"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1006/geno.2002.6849", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1030283977"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1093/nar/gkr100", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1030490558"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1074/jbc.m112.441055", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1030775632"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/35055553", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1030923084", 
              "https://doi.org/10.1038/35055553"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/35055553", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1030923084", 
              "https://doi.org/10.1038/35055553"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.3389/fnins.2013.00191", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1031140818"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.2310/jim.0b013e3181af59d6", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1031197612"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/mrdd.20005", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1031278776"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.neuron.2007.07.020", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1032635484"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.neurobiolaging.2013.11.009", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1032867500"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ejhg.2009.51", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1033329817", 
              "https://doi.org/10.1038/ejhg.2009.51"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s00401-011-0860-9", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1033439431", 
              "https://doi.org/10.1007/s00401-011-0860-9"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s00439-010-0882-8", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1033926895", 
              "https://doi.org/10.1007/s00439-010-0882-8"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s00439-010-0882-8", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1033926895", 
              "https://doi.org/10.1007/s00439-010-0882-8"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s00439-010-0882-8", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1033926895", 
              "https://doi.org/10.1007/s00439-010-0882-8"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1037/0735-7044.122.3.710", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1034593371"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.nbd.2006.06.005", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1034652055"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1371/journal.pgen.1002018", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1034719319"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1037/a0017616", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1034811970"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.bbr.2005.03.007", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1034981059"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.bbr.2005.03.007", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1034981059"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1093/hmg/ddq432", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1035400191"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1093/nar/24.22.4407", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1037364757"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1172/jci43578", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1037714413"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1111/j.1528-1167.2012.03486.x", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1038889497"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1369/0022155412441002", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1038983449"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1369/0022155412441002", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1038983449"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/hipo.20464", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1039255083"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1093/hmg/ddr101", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1039267992"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1093/hmg/ddq166", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1040071649"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1093/hmg/ddq166", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1040071649"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1042/bj20091960", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1041264766"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1042/bj20091960", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1041264766"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1042/bj20091960", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1041264766"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.neuron.2012.05.029", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1042615723"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/978-1-4419-5805-1_8", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1042817902", 
              "https://doi.org/10.1007/978-1-4419-5805-1_8"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1093/hmg/ddp497", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1043004030"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.yexcr.2006.10.002", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1043272167"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1038/emboj.2009.196", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1044373244"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.jpsychires.2013.08.014", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1045320945"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1093/nar/gkm1136", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1045760975"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/978-1-59745-406-3_13", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1045853526", 
              "https://doi.org/10.1007/978-1-59745-406-3_13"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/978-1-59745-406-3_13", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1045853526", 
              "https://doi.org/10.1007/978-1-59745-406-3_13"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.brainres.2013.08.052", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1046075531"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1093/hmg/10.16.1693", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1046121454"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.bbr.2011.03.039", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1046419044"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1523/jneurosci.4815-07.2008", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1047185244"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/ajmg.b.30910", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1047748423"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1038/emboj.2010.21", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1048205553"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1038/emboj.2010.21", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1048205553"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/s0959-437x(02)00299-x", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1049919989"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.tins.2004.04.009", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1049990931"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1093/hmg/ddi394", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1050154758"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/0092-8674(91)90397-h", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1050395340"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.3389/fnins.2013.00001", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1050988772"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1128/mcb.21.20.6927-6938.2001", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1051946521"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1037/0894-4105.22.1.48", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1052125318"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.pneurobio.2011.10.006", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1052172646"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.brainres.2012.06.052", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1052377717"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/978-3-642-21649-7_14", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1052865369", 
              "https://doi.org/10.1007/978-3-642-21649-7_14"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1126/science.252.5009.1179", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1062542083"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1212/wnl.57.1.127", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1064379717"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1212/wnl.57.1.127", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1064379717"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1212/wnl.57.1.127", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1064379717"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.2174/138161208786264151", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1069166696"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.4161/rna.19760", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1072309958"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.4238/2012.march.1.4", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1072390992"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://app.dimensions.ai/details/publication/pub.1074859852", 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://app.dimensions.ai/details/publication/pub.1075189249", 
            "type": "CreativeWork"
          }
        ], 
        "datePublished": "2014-12", 
        "datePublishedReg": "2014-12-01", 
        "description": "Carriers of the fragile X premutation (FPM) have CGG trinucleotide repeat expansions of between 55 and 200 in the 5'-UTR of FMR1, compared to a CGG repeat length of between 5 and 54 for the general population. Carriers were once thought to be without symptoms, but it is now recognized that they can develop a variety of early neurological symptoms as well as being at risk for developing the late onset neurodegenerative disorder fragile X-associated tremor/ataxia syndrome (FXTAS). Several mouse models have contributed to our understanding of FPM and FXTAS, and findings from studies using these models are summarized here. This review also discusses how this information is improving our understanding of the molecular and cellular abnormalities that contribute to neurobehavioral features seen in some FPM carriers and in patients with FXTAS. Mouse models show much of the pathology seen in FPM carriers and in individuals with FXTAS, including the presence of elevated levels of Fmr1 mRNA, decreased levels of fragile X mental retardation protein, and ubiquitin-positive intranuclear inclusions. Abnormalities in dendritic spine morphology in several brain regions are associated with neurocognitive deficits in spatial and temporal memory processes, impaired motor performance, and altered anxiety. In vitro studies have identified altered dendritic and synaptic architecture associated with abnormal Ca(2+) dynamics and electrical network activity. FPM mice have been particularly useful in understanding the roles of Fmr1 mRNA, fragile X mental retardation protein, and translation of a potentially toxic polyglycine peptide in pathology. Finally, the potential for using these and emerging mouse models for preclinical development of therapies to improve neurological function in FXTAS is considered. ", 
        "genre": "research_article", 
        "id": "sg:pub.10.1186/1866-1955-6-25", 
        "inLanguage": [
          "en"
        ], 
        "isAccessibleForFree": true, 
        "isFundedItemOf": [
          {
            "id": "sg:grant.2563410", 
            "type": "MonetaryGrant"
          }, 
          {
            "id": "sg:grant.2436271", 
            "type": "MonetaryGrant"
          }, 
          {
            "id": "sg:grant.2504180", 
            "type": "MonetaryGrant"
          }, 
          {
            "id": "sg:grant.3804139", 
            "type": "MonetaryGrant"
          }, 
          {
            "id": "sg:grant.2561389", 
            "type": "MonetaryGrant"
          }, 
          {
            "id": "sg:grant.2439258", 
            "type": "MonetaryGrant"
          }, 
          {
            "id": "sg:grant.2724952", 
            "type": "MonetaryGrant"
          }
        ], 
        "isPartOf": [
          {
            "id": "sg:journal.1040543", 
            "issn": [
              "1866-1947", 
              "1866-1955"
            ], 
            "name": "Journal of Neurodevelopmental Disorders", 
            "type": "Periodical"
          }, 
          {
            "issueNumber": "1", 
            "type": "PublicationIssue"
          }, 
          {
            "type": "PublicationVolume", 
            "volumeNumber": "6"
          }
        ], 
        "name": "Mouse models of the fragile X premutation and fragile X-associated tremor/ataxia syndrome", 
        "pagination": "25", 
        "productId": [
          {
            "name": "readcube_id", 
            "type": "PropertyValue", 
            "value": [
              "6747a0b1543d7aa694e5995c9f21c32b807e5cfe5fb68abe3df0f50fa69396ec"
            ]
          }, 
          {
            "name": "pubmed_id", 
            "type": "PropertyValue", 
            "value": [
              "25136376"
            ]
          }, 
          {
            "name": "nlm_unique_id", 
            "type": "PropertyValue", 
            "value": [
              "101483832"
            ]
          }, 
          {
            "name": "doi", 
            "type": "PropertyValue", 
            "value": [
              "10.1186/1866-1955-6-25"
            ]
          }, 
          {
            "name": "dimensions_id", 
            "type": "PropertyValue", 
            "value": [
              "pub.1021677191"
            ]
          }
        ], 
        "sameAs": [
          "https://doi.org/10.1186/1866-1955-6-25", 
          "https://app.dimensions.ai/details/publication/pub.1021677191"
        ], 
        "sdDataset": "articles", 
        "sdDatePublished": "2019-04-11T01:07", 
        "sdLicense": "https://scigraph.springernature.com/explorer/license/", 
        "sdPublisher": {
          "name": "Springer Nature - SN SciGraph project", 
          "type": "Organization"
        }, 
        "sdSource": "s3://com-uberresearch-data-dimensions-target-20181106-alternative/cleanup/v134/2549eaecd7973599484d7c17b260dba0a4ecb94b/merge/v9/a6c9fde33151104705d4d7ff012ea9563521a3ce/jats-lookup/v90/0000000001_0000000264/records_8697_00000512.jsonl", 
        "type": "ScholarlyArticle", 
        "url": "http://link.springer.com/10.1186%2F1866-1955-6-25"
      }
    ]
     

    Download the RDF metadata as:  json-ld nt turtle xml License info

    HOW TO GET THIS DATA PROGRAMMATICALLY:

    JSON-LD is a popular format for linked data which is fully compatible with JSON.

    curl -H 'Accept: application/ld+json' 'https://scigraph.springernature.com/pub.10.1186/1866-1955-6-25'

    N-Triples is a line-based linked data format ideal for batch operations.

    curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1186/1866-1955-6-25'

    Turtle is a human-readable linked data format.

    curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1186/1866-1955-6-25'

    RDF/XML is a standard XML format for linked data.

    curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1186/1866-1955-6-25'


     

    This table displays all metadata directly associated to this object as RDF triples.

    543 TRIPLES      21 PREDICATES      147 URIs      21 LITERALS      9 BLANK NODES

    Subject Predicate Object
    1 sg:pub.10.1186/1866-1955-6-25 schema:about anzsrc-for:11
    2 anzsrc-for:1109
    3 schema:author N0e1778b1371c4cff85451ff139666b9f
    4 schema:citation sg:pub.10.1007/978-1-4419-5805-1_8
    5 sg:pub.10.1007/978-1-59745-406-3_13
    6 sg:pub.10.1007/978-3-642-21649-7_14
    7 sg:pub.10.1007/s00401-011-0860-9
    8 sg:pub.10.1007/s00439-010-0882-8
    9 sg:pub.10.1038/35055553
    10 sg:pub.10.1038/ejhg.2009.51
    11 sg:pub.10.1038/ng.138
    12 sg:pub.10.1038/ng0793-244
    13 sg:pub.10.1038/nrg1656
    14 sg:pub.10.1097/gim.0b013e3181fa9fad
    15 sg:pub.10.1186/gm401
    16 https://app.dimensions.ai/details/publication/pub.1074859852
    17 https://app.dimensions.ai/details/publication/pub.1075189249
    18 https://doi.org/10.1001/jamaneurol.2013.2934
    19 https://doi.org/10.1002/1096-8628(20010115)98:2<161::aid-ajmg1025>3.0.co;2-b
    20 https://doi.org/10.1002/ajmg.10500
    21 https://doi.org/10.1002/ajmg.1320410306
    22 https://doi.org/10.1002/ajmg.a.32342
    23 https://doi.org/10.1002/ajmg.a.36241
    24 https://doi.org/10.1002/ajmg.b.20030
    25 https://doi.org/10.1002/ajmg.b.30183
    26 https://doi.org/10.1002/ajmg.b.30910
    27 https://doi.org/10.1002/hipo.20464
    28 https://doi.org/10.1002/hipo.22043
    29 https://doi.org/10.1002/humu.22177
    30 https://doi.org/10.1002/mds.21493
    31 https://doi.org/10.1002/mds.23646
    32 https://doi.org/10.1002/mrdd.20005
    33 https://doi.org/10.1006/geno.2002.6849
    34 https://doi.org/10.1016/0092-8674(91)90397-h
    35 https://doi.org/10.1016/j.bbr.2005.03.007
    36 https://doi.org/10.1016/j.bbr.2011.03.039
    37 https://doi.org/10.1016/j.brainres.2008.11.075
    38 https://doi.org/10.1016/j.brainres.2009.12.077
    39 https://doi.org/10.1016/j.brainres.2012.06.052
    40 https://doi.org/10.1016/j.brainres.2013.08.052
    41 https://doi.org/10.1016/j.celrep.2013.02.004
    42 https://doi.org/10.1016/j.febslet.2005.04.004
    43 https://doi.org/10.1016/j.gene.2007.02.026
    44 https://doi.org/10.1016/j.jpsychires.2013.08.014
    45 https://doi.org/10.1016/j.nbd.2006.06.005
    46 https://doi.org/10.1016/j.nbd.2011.01.008
    47 https://doi.org/10.1016/j.neurobiolaging.2013.11.009
    48 https://doi.org/10.1016/j.neuron.2007.07.020
    49 https://doi.org/10.1016/j.neuron.2007.07.021
    50 https://doi.org/10.1016/j.neuron.2012.05.029
    51 https://doi.org/10.1016/j.neuron.2013.03.026
    52 https://doi.org/10.1016/j.nlm.2011.12.006
    53 https://doi.org/10.1016/j.pneurobio.2011.10.006
    54 https://doi.org/10.1016/j.tins.2004.04.009
    55 https://doi.org/10.1016/j.yexcr.2006.10.002
    56 https://doi.org/10.1016/s0896-6273(03)00533-6
    57 https://doi.org/10.1016/s0959-437x(02)00299-x
    58 https://doi.org/10.1016/s1474-4422(13)70125-x
    59 https://doi.org/10.1037/0735-7044.122.3.710
    60 https://doi.org/10.1037/0894-4105.22.1.48
    61 https://doi.org/10.1037/a0017616
    62 https://doi.org/10.1038/emboj.2009.196
    63 https://doi.org/10.1038/emboj.2010.21
    64 https://doi.org/10.1042/bj20091960
    65 https://doi.org/10.1073/pnas.0712197105
    66 https://doi.org/10.1073/pnas.1013343108
    67 https://doi.org/10.1073/pnas.1101219108
    68 https://doi.org/10.1073/pnas.90.6.2375
    69 https://doi.org/10.1074/jbc.m101219200
    70 https://doi.org/10.1074/jbc.m112.441055
    71 https://doi.org/10.1074/jbc.m513511200
    72 https://doi.org/10.1084/jem.20070823
    73 https://doi.org/10.1093/brain/awf184
    74 https://doi.org/10.1093/brain/awh650
    75 https://doi.org/10.1093/brain/awh683
    76 https://doi.org/10.1093/hmg/10.14.1449
    77 https://doi.org/10.1093/hmg/10.16.1693
    78 https://doi.org/10.1093/hmg/5.1.95
    79 https://doi.org/10.1093/hmg/9.8.1145
    80 https://doi.org/10.1093/hmg/ddg114
    81 https://doi.org/10.1093/hmg/ddi394
    82 https://doi.org/10.1093/hmg/ddp182
    83 https://doi.org/10.1093/hmg/ddp479
    84 https://doi.org/10.1093/hmg/ddp497
    85 https://doi.org/10.1093/hmg/ddq166
    86 https://doi.org/10.1093/hmg/ddq432
    87 https://doi.org/10.1093/hmg/ddr101
    88 https://doi.org/10.1093/hmg/ddr327
    89 https://doi.org/10.1093/hmg/dds118
    90 https://doi.org/10.1093/hmg/dds525
    91 https://doi.org/10.1093/hmg/ddu032
    92 https://doi.org/10.1093/nar/24.22.4407
    93 https://doi.org/10.1093/nar/gkm1136
    94 https://doi.org/10.1093/nar/gkr100
    95 https://doi.org/10.1097/00004703-200604002-00012
    96 https://doi.org/10.1111/gbb.12061
    97 https://doi.org/10.1111/j.1399-0004.2011.01723.x
    98 https://doi.org/10.1111/j.1471-4159.2008.05747.x
    99 https://doi.org/10.1111/j.1471-4159.2012.07936.x
    100 https://doi.org/10.1111/j.1528-1167.2012.03486.x
    101 https://doi.org/10.1126/science.252.5009.1179
    102 https://doi.org/10.1128/mcb.01676-12
    103 https://doi.org/10.1128/mcb.21.20.6927-6938.2001
    104 https://doi.org/10.1136/jmg.2003.012518
    105 https://doi.org/10.1172/jci43578
    106 https://doi.org/10.1212/wnl.57.1.127
    107 https://doi.org/10.1352/0895-8017(2004)109<154:aiiwtf>2.0.co;2
    108 https://doi.org/10.1369/0022155412441002
    109 https://doi.org/10.1371/journal.pgen.1002018
    110 https://doi.org/10.1371/journal.pgen.1002681
    111 https://doi.org/10.1371/journal.pone.0058296
    112 https://doi.org/10.1523/jneurosci.0828-08.2008
    113 https://doi.org/10.1523/jneurosci.2899-04.2005
    114 https://doi.org/10.1523/jneurosci.4815-07.2008
    115 https://doi.org/10.2174/138161208786264151
    116 https://doi.org/10.2217/fnl.09.44
    117 https://doi.org/10.2310/jim.0b013e3181af59d6
    118 https://doi.org/10.3389/fnins.2013.00001
    119 https://doi.org/10.3389/fnins.2013.00191
    120 https://doi.org/10.4161/rna.19760
    121 https://doi.org/10.4238/2012.march.1.4
    122 schema:datePublished 2014-12
    123 schema:datePublishedReg 2014-12-01
    124 schema:description Carriers of the fragile X premutation (FPM) have CGG trinucleotide repeat expansions of between 55 and 200 in the 5'-UTR of FMR1, compared to a CGG repeat length of between 5 and 54 for the general population. Carriers were once thought to be without symptoms, but it is now recognized that they can develop a variety of early neurological symptoms as well as being at risk for developing the late onset neurodegenerative disorder fragile X-associated tremor/ataxia syndrome (FXTAS). Several mouse models have contributed to our understanding of FPM and FXTAS, and findings from studies using these models are summarized here. This review also discusses how this information is improving our understanding of the molecular and cellular abnormalities that contribute to neurobehavioral features seen in some FPM carriers and in patients with FXTAS. Mouse models show much of the pathology seen in FPM carriers and in individuals with FXTAS, including the presence of elevated levels of Fmr1 mRNA, decreased levels of fragile X mental retardation protein, and ubiquitin-positive intranuclear inclusions. Abnormalities in dendritic spine morphology in several brain regions are associated with neurocognitive deficits in spatial and temporal memory processes, impaired motor performance, and altered anxiety. In vitro studies have identified altered dendritic and synaptic architecture associated with abnormal Ca(2+) dynamics and electrical network activity. FPM mice have been particularly useful in understanding the roles of Fmr1 mRNA, fragile X mental retardation protein, and translation of a potentially toxic polyglycine peptide in pathology. Finally, the potential for using these and emerging mouse models for preclinical development of therapies to improve neurological function in FXTAS is considered.
    125 schema:genre research_article
    126 schema:inLanguage en
    127 schema:isAccessibleForFree true
    128 schema:isPartOf N434bdf6dc3d14d8b80482ffb915cc989
    129 N5cf9968ee2144ffd9395a1e5161c914d
    130 sg:journal.1040543
    131 schema:name Mouse models of the fragile X premutation and fragile X-associated tremor/ataxia syndrome
    132 schema:pagination 25
    133 schema:productId N438687f416574f57ac9b45e55cddef6a
    134 N44b3fada80334f659d8535e59d4d9bbb
    135 N62bc6856534a43c09c55032627fc1ec5
    136 N73dad756d18e4e8884ff01a32ba7c768
    137 Nc941899330484f0ab2e29191ee44c56b
    138 schema:sameAs https://app.dimensions.ai/details/publication/pub.1021677191
    139 https://doi.org/10.1186/1866-1955-6-25
    140 schema:sdDatePublished 2019-04-11T01:07
    141 schema:sdLicense https://scigraph.springernature.com/explorer/license/
    142 schema:sdPublisher Na53ae691e8b5423fba6776026dd1199f
    143 schema:url http://link.springer.com/10.1186%2F1866-1955-6-25
    144 sgo:license sg:explorer/license/
    145 sgo:sdDataset articles
    146 rdf:type schema:ScholarlyArticle
    147 N06e78add8dde41c08f7d062113327e85 rdf:first sg:person.0646722553.41
    148 rdf:rest N11b34ccce5b4487eb328ce071f2f45e9
    149 N0e1778b1371c4cff85451ff139666b9f rdf:first sg:person.0623340447.86
    150 rdf:rest N54c9acc128254deb9994789661d0546d
    151 N11b34ccce5b4487eb328ce071f2f45e9 rdf:first sg:person.0764455006.25
    152 rdf:rest N6efdb5486457496d8eec3ad72326fef4
    153 N206bf92dcdc343ffb977514e3399b164 rdf:first sg:person.01257573777.59
    154 rdf:rest N470393a991fe4e4e8692a8b96c563fc4
    155 N434bdf6dc3d14d8b80482ffb915cc989 schema:issueNumber 1
    156 rdf:type schema:PublicationIssue
    157 N438687f416574f57ac9b45e55cddef6a schema:name readcube_id
    158 schema:value 6747a0b1543d7aa694e5995c9f21c32b807e5cfe5fb68abe3df0f50fa69396ec
    159 rdf:type schema:PropertyValue
    160 N44b3fada80334f659d8535e59d4d9bbb schema:name dimensions_id
    161 schema:value pub.1021677191
    162 rdf:type schema:PropertyValue
    163 N470393a991fe4e4e8692a8b96c563fc4 rdf:first sg:person.011323127347.22
    164 rdf:rest Nd3aca333cbda48cc94d380ad71cd42a5
    165 N52b67a36d08645e190767586ebb55e2d rdf:first sg:person.0716166105.39
    166 rdf:rest N5fac1f764d284e93b98138606af1d896
    167 N54c9acc128254deb9994789661d0546d rdf:first sg:person.01262135712.44
    168 rdf:rest N52b67a36d08645e190767586ebb55e2d
    169 N5cf9968ee2144ffd9395a1e5161c914d schema:volumeNumber 6
    170 rdf:type schema:PublicationVolume
    171 N5fac1f764d284e93b98138606af1d896 rdf:first sg:person.01137302273.11
    172 rdf:rest N206bf92dcdc343ffb977514e3399b164
    173 N62bc6856534a43c09c55032627fc1ec5 schema:name doi
    174 schema:value 10.1186/1866-1955-6-25
    175 rdf:type schema:PropertyValue
    176 N6efdb5486457496d8eec3ad72326fef4 rdf:first N9ff2e6b178f14e57a196251b0ede619f
    177 rdf:rest N95b39652ac6c4cc38a41efc190d4f01d
    178 N73dad756d18e4e8884ff01a32ba7c768 schema:name pubmed_id
    179 schema:value 25136376
    180 rdf:type schema:PropertyValue
    181 N95b39652ac6c4cc38a41efc190d4f01d rdf:first sg:person.01031667437.50
    182 rdf:rest Na4506a0b7d01410880cec410a4afb309
    183 N9ff2e6b178f14e57a196251b0ede619f schema:affiliation https://www.grid.ac/institutes/grid.420255.4
    184 schema:familyName Charlet-Bergeurand
    185 schema:givenName Nicholas
    186 rdf:type schema:Person
    187 Na4506a0b7d01410880cec410a4afb309 rdf:first sg:person.01246225123.37
    188 rdf:rest rdf:nil
    189 Na53ae691e8b5423fba6776026dd1199f schema:name Springer Nature - SN SciGraph project
    190 rdf:type schema:Organization
    191 Nc941899330484f0ab2e29191ee44c56b schema:name nlm_unique_id
    192 schema:value 101483832
    193 rdf:type schema:PropertyValue
    194 Nd3aca333cbda48cc94d380ad71cd42a5 rdf:first sg:person.0755701527.11
    195 rdf:rest N06e78add8dde41c08f7d062113327e85
    196 anzsrc-for:11 schema:inDefinedTermSet anzsrc-for:
    197 schema:name Medical and Health Sciences
    198 rdf:type schema:DefinedTerm
    199 anzsrc-for:1109 schema:inDefinedTermSet anzsrc-for:
    200 schema:name Neurosciences
    201 rdf:type schema:DefinedTerm
    202 sg:grant.2436271 http://pending.schema.org/fundedItem sg:pub.10.1186/1866-1955-6-25
    203 rdf:type schema:MonetaryGrant
    204 sg:grant.2439258 http://pending.schema.org/fundedItem sg:pub.10.1186/1866-1955-6-25
    205 rdf:type schema:MonetaryGrant
    206 sg:grant.2504180 http://pending.schema.org/fundedItem sg:pub.10.1186/1866-1955-6-25
    207 rdf:type schema:MonetaryGrant
    208 sg:grant.2561389 http://pending.schema.org/fundedItem sg:pub.10.1186/1866-1955-6-25
    209 rdf:type schema:MonetaryGrant
    210 sg:grant.2563410 http://pending.schema.org/fundedItem sg:pub.10.1186/1866-1955-6-25
    211 rdf:type schema:MonetaryGrant
    212 sg:grant.2724952 http://pending.schema.org/fundedItem sg:pub.10.1186/1866-1955-6-25
    213 rdf:type schema:MonetaryGrant
    214 sg:grant.3804139 http://pending.schema.org/fundedItem sg:pub.10.1186/1866-1955-6-25
    215 rdf:type schema:MonetaryGrant
    216 sg:journal.1040543 schema:issn 1866-1947
    217 1866-1955
    218 schema:name Journal of Neurodevelopmental Disorders
    219 rdf:type schema:Periodical
    220 sg:person.01031667437.50 schema:affiliation https://www.grid.ac/institutes/grid.5645.2
    221 schema:familyName Willemsen
    222 schema:givenName Rob
    223 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01031667437.50
    224 rdf:type schema:Person
    225 sg:person.011323127347.22 schema:affiliation https://www.grid.ac/institutes/grid.27860.3b
    226 schema:familyName Pretto
    227 schema:givenName Dalyir
    228 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.011323127347.22
    229 rdf:type schema:Person
    230 sg:person.01137302273.11 schema:affiliation https://www.grid.ac/institutes/grid.9224.d
    231 schema:familyName Pintado
    232 schema:givenName Elizabeth
    233 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01137302273.11
    234 rdf:type schema:Person
    235 sg:person.01246225123.37 schema:affiliation https://www.grid.ac/institutes/grid.5645.2
    236 schema:familyName Hukema
    237 schema:givenName Renate K
    238 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01246225123.37
    239 rdf:type schema:Person
    240 sg:person.01257573777.59 schema:affiliation https://www.grid.ac/institutes/grid.5284.b
    241 schema:familyName Kooy
    242 schema:givenName Frank
    243 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01257573777.59
    244 rdf:type schema:Person
    245 sg:person.01262135712.44 schema:affiliation https://www.grid.ac/institutes/grid.5645.2
    246 schema:familyName Buijsen
    247 schema:givenName Ronald AM
    248 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01262135712.44
    249 rdf:type schema:Person
    250 sg:person.0623340447.86 schema:affiliation https://www.grid.ac/institutes/grid.27860.3b
    251 schema:familyName Berman
    252 schema:givenName Robert F
    253 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0623340447.86
    254 rdf:type schema:Person
    255 sg:person.0646722553.41 schema:affiliation https://www.grid.ac/institutes/grid.39382.33
    256 schema:familyName Nelson
    257 schema:givenName David L
    258 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0646722553.41
    259 rdf:type schema:Person
    260 sg:person.0716166105.39 schema:affiliation https://www.grid.ac/institutes/grid.419635.c
    261 schema:familyName Usdin
    262 schema:givenName Karen
    263 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0716166105.39
    264 rdf:type schema:Person
    265 sg:person.0755701527.11 schema:affiliation https://www.grid.ac/institutes/grid.27860.3b
    266 schema:familyName Pessah
    267 schema:givenName Isaac N
    268 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0755701527.11
    269 rdf:type schema:Person
    270 sg:person.0764455006.25 schema:affiliation https://www.grid.ac/institutes/grid.39382.33
    271 schema:familyName Zalewski
    272 schema:givenName Zachary
    273 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0764455006.25
    274 rdf:type schema:Person
    275 sg:pub.10.1007/978-1-4419-5805-1_8 schema:sameAs https://app.dimensions.ai/details/publication/pub.1042817902
    276 https://doi.org/10.1007/978-1-4419-5805-1_8
    277 rdf:type schema:CreativeWork
    278 sg:pub.10.1007/978-1-59745-406-3_13 schema:sameAs https://app.dimensions.ai/details/publication/pub.1045853526
    279 https://doi.org/10.1007/978-1-59745-406-3_13
    280 rdf:type schema:CreativeWork
    281 sg:pub.10.1007/978-3-642-21649-7_14 schema:sameAs https://app.dimensions.ai/details/publication/pub.1052865369
    282 https://doi.org/10.1007/978-3-642-21649-7_14
    283 rdf:type schema:CreativeWork
    284 sg:pub.10.1007/s00401-011-0860-9 schema:sameAs https://app.dimensions.ai/details/publication/pub.1033439431
    285 https://doi.org/10.1007/s00401-011-0860-9
    286 rdf:type schema:CreativeWork
    287 sg:pub.10.1007/s00439-010-0882-8 schema:sameAs https://app.dimensions.ai/details/publication/pub.1033926895
    288 https://doi.org/10.1007/s00439-010-0882-8
    289 rdf:type schema:CreativeWork
    290 sg:pub.10.1038/35055553 schema:sameAs https://app.dimensions.ai/details/publication/pub.1030923084
    291 https://doi.org/10.1038/35055553
    292 rdf:type schema:CreativeWork
    293 sg:pub.10.1038/ejhg.2009.51 schema:sameAs https://app.dimensions.ai/details/publication/pub.1033329817
    294 https://doi.org/10.1038/ejhg.2009.51
    295 rdf:type schema:CreativeWork
    296 sg:pub.10.1038/ng.138 schema:sameAs https://app.dimensions.ai/details/publication/pub.1004555914
    297 https://doi.org/10.1038/ng.138
    298 rdf:type schema:CreativeWork
    299 sg:pub.10.1038/ng0793-244 schema:sameAs https://app.dimensions.ai/details/publication/pub.1029400780
    300 https://doi.org/10.1038/ng0793-244
    301 rdf:type schema:CreativeWork
    302 sg:pub.10.1038/nrg1656 schema:sameAs https://app.dimensions.ai/details/publication/pub.1005939469
    303 https://doi.org/10.1038/nrg1656
    304 rdf:type schema:CreativeWork
    305 sg:pub.10.1097/gim.0b013e3181fa9fad schema:sameAs https://app.dimensions.ai/details/publication/pub.1008353748
    306 https://doi.org/10.1097/gim.0b013e3181fa9fad
    307 rdf:type schema:CreativeWork
    308 sg:pub.10.1186/gm401 schema:sameAs https://app.dimensions.ai/details/publication/pub.1003237426
    309 https://doi.org/10.1186/gm401
    310 rdf:type schema:CreativeWork
    311 https://app.dimensions.ai/details/publication/pub.1074859852 schema:CreativeWork
    312 https://app.dimensions.ai/details/publication/pub.1075189249 schema:CreativeWork
    313 https://doi.org/10.1001/jamaneurol.2013.2934 schema:sameAs https://app.dimensions.ai/details/publication/pub.1004853175
    314 rdf:type schema:CreativeWork
    315 https://doi.org/10.1002/1096-8628(20010115)98:2<161::aid-ajmg1025>3.0.co;2-b schema:sameAs https://app.dimensions.ai/details/publication/pub.1028103859
    316 rdf:type schema:CreativeWork
    317 https://doi.org/10.1002/ajmg.10500 schema:sameAs https://app.dimensions.ai/details/publication/pub.1002523528
    318 rdf:type schema:CreativeWork
    319 https://doi.org/10.1002/ajmg.1320410306 schema:sameAs https://app.dimensions.ai/details/publication/pub.1004006242
    320 rdf:type schema:CreativeWork
    321 https://doi.org/10.1002/ajmg.a.32342 schema:sameAs https://app.dimensions.ai/details/publication/pub.1011743799
    322 rdf:type schema:CreativeWork
    323 https://doi.org/10.1002/ajmg.a.36241 schema:sameAs https://app.dimensions.ai/details/publication/pub.1029280994
    324 rdf:type schema:CreativeWork
    325 https://doi.org/10.1002/ajmg.b.20030 schema:sameAs https://app.dimensions.ai/details/publication/pub.1014465012
    326 rdf:type schema:CreativeWork
    327 https://doi.org/10.1002/ajmg.b.30183 schema:sameAs https://app.dimensions.ai/details/publication/pub.1009941845
    328 rdf:type schema:CreativeWork
    329 https://doi.org/10.1002/ajmg.b.30910 schema:sameAs https://app.dimensions.ai/details/publication/pub.1047748423
    330 rdf:type schema:CreativeWork
    331 https://doi.org/10.1002/hipo.20464 schema:sameAs https://app.dimensions.ai/details/publication/pub.1039255083
    332 rdf:type schema:CreativeWork
    333 https://doi.org/10.1002/hipo.22043 schema:sameAs https://app.dimensions.ai/details/publication/pub.1029224432
    334 rdf:type schema:CreativeWork
    335 https://doi.org/10.1002/humu.22177 schema:sameAs https://app.dimensions.ai/details/publication/pub.1016531107
    336 rdf:type schema:CreativeWork
    337 https://doi.org/10.1002/mds.21493 schema:sameAs https://app.dimensions.ai/details/publication/pub.1002654483
    338 rdf:type schema:CreativeWork
    339 https://doi.org/10.1002/mds.23646 schema:sameAs https://app.dimensions.ai/details/publication/pub.1014097063
    340 rdf:type schema:CreativeWork
    341 https://doi.org/10.1002/mrdd.20005 schema:sameAs https://app.dimensions.ai/details/publication/pub.1031278776
    342 rdf:type schema:CreativeWork
    343 https://doi.org/10.1006/geno.2002.6849 schema:sameAs https://app.dimensions.ai/details/publication/pub.1030283977
    344 rdf:type schema:CreativeWork
    345 https://doi.org/10.1016/0092-8674(91)90397-h schema:sameAs https://app.dimensions.ai/details/publication/pub.1050395340
    346 rdf:type schema:CreativeWork
    347 https://doi.org/10.1016/j.bbr.2005.03.007 schema:sameAs https://app.dimensions.ai/details/publication/pub.1034981059
    348 rdf:type schema:CreativeWork
    349 https://doi.org/10.1016/j.bbr.2011.03.039 schema:sameAs https://app.dimensions.ai/details/publication/pub.1046419044
    350 rdf:type schema:CreativeWork
    351 https://doi.org/10.1016/j.brainres.2008.11.075 schema:sameAs https://app.dimensions.ai/details/publication/pub.1016081427
    352 rdf:type schema:CreativeWork
    353 https://doi.org/10.1016/j.brainres.2009.12.077 schema:sameAs https://app.dimensions.ai/details/publication/pub.1013099163
    354 rdf:type schema:CreativeWork
    355 https://doi.org/10.1016/j.brainres.2012.06.052 schema:sameAs https://app.dimensions.ai/details/publication/pub.1052377717
    356 rdf:type schema:CreativeWork
    357 https://doi.org/10.1016/j.brainres.2013.08.052 schema:sameAs https://app.dimensions.ai/details/publication/pub.1046075531
    358 rdf:type schema:CreativeWork
    359 https://doi.org/10.1016/j.celrep.2013.02.004 schema:sameAs https://app.dimensions.ai/details/publication/pub.1015807359
    360 rdf:type schema:CreativeWork
    361 https://doi.org/10.1016/j.febslet.2005.04.004 schema:sameAs https://app.dimensions.ai/details/publication/pub.1010692240
    362 rdf:type schema:CreativeWork
    363 https://doi.org/10.1016/j.gene.2007.02.026 schema:sameAs https://app.dimensions.ai/details/publication/pub.1016798403
    364 rdf:type schema:CreativeWork
    365 https://doi.org/10.1016/j.jpsychires.2013.08.014 schema:sameAs https://app.dimensions.ai/details/publication/pub.1045320945
    366 rdf:type schema:CreativeWork
    367 https://doi.org/10.1016/j.nbd.2006.06.005 schema:sameAs https://app.dimensions.ai/details/publication/pub.1034652055
    368 rdf:type schema:CreativeWork
    369 https://doi.org/10.1016/j.nbd.2011.01.008 schema:sameAs https://app.dimensions.ai/details/publication/pub.1014819184
    370 rdf:type schema:CreativeWork
    371 https://doi.org/10.1016/j.neurobiolaging.2013.11.009 schema:sameAs https://app.dimensions.ai/details/publication/pub.1032867500
    372 rdf:type schema:CreativeWork
    373 https://doi.org/10.1016/j.neuron.2007.07.020 schema:sameAs https://app.dimensions.ai/details/publication/pub.1032635484
    374 rdf:type schema:CreativeWork
    375 https://doi.org/10.1016/j.neuron.2007.07.021 schema:sameAs https://app.dimensions.ai/details/publication/pub.1029951739
    376 rdf:type schema:CreativeWork
    377 https://doi.org/10.1016/j.neuron.2012.05.029 schema:sameAs https://app.dimensions.ai/details/publication/pub.1042615723
    378 rdf:type schema:CreativeWork
    379 https://doi.org/10.1016/j.neuron.2013.03.026 schema:sameAs https://app.dimensions.ai/details/publication/pub.1002625980
    380 rdf:type schema:CreativeWork
    381 https://doi.org/10.1016/j.nlm.2011.12.006 schema:sameAs https://app.dimensions.ai/details/publication/pub.1020427269
    382 rdf:type schema:CreativeWork
    383 https://doi.org/10.1016/j.pneurobio.2011.10.006 schema:sameAs https://app.dimensions.ai/details/publication/pub.1052172646
    384 rdf:type schema:CreativeWork
    385 https://doi.org/10.1016/j.tins.2004.04.009 schema:sameAs https://app.dimensions.ai/details/publication/pub.1049990931
    386 rdf:type schema:CreativeWork
    387 https://doi.org/10.1016/j.yexcr.2006.10.002 schema:sameAs https://app.dimensions.ai/details/publication/pub.1043272167
    388 rdf:type schema:CreativeWork
    389 https://doi.org/10.1016/s0896-6273(03)00533-6 schema:sameAs https://app.dimensions.ai/details/publication/pub.1001418916
    390 rdf:type schema:CreativeWork
    391 https://doi.org/10.1016/s0959-437x(02)00299-x schema:sameAs https://app.dimensions.ai/details/publication/pub.1049919989
    392 rdf:type schema:CreativeWork
    393 https://doi.org/10.1016/s1474-4422(13)70125-x schema:sameAs https://app.dimensions.ai/details/publication/pub.1004321855
    394 rdf:type schema:CreativeWork
    395 https://doi.org/10.1037/0735-7044.122.3.710 schema:sameAs https://app.dimensions.ai/details/publication/pub.1034593371
    396 rdf:type schema:CreativeWork
    397 https://doi.org/10.1037/0894-4105.22.1.48 schema:sameAs https://app.dimensions.ai/details/publication/pub.1052125318
    398 rdf:type schema:CreativeWork
    399 https://doi.org/10.1037/a0017616 schema:sameAs https://app.dimensions.ai/details/publication/pub.1034811970
    400 rdf:type schema:CreativeWork
    401 https://doi.org/10.1038/emboj.2009.196 schema:sameAs https://app.dimensions.ai/details/publication/pub.1044373244
    402 rdf:type schema:CreativeWork
    403 https://doi.org/10.1038/emboj.2010.21 schema:sameAs https://app.dimensions.ai/details/publication/pub.1048205553
    404 rdf:type schema:CreativeWork
    405 https://doi.org/10.1042/bj20091960 schema:sameAs https://app.dimensions.ai/details/publication/pub.1041264766
    406 rdf:type schema:CreativeWork
    407 https://doi.org/10.1073/pnas.0712197105 schema:sameAs https://app.dimensions.ai/details/publication/pub.1007700367
    408 rdf:type schema:CreativeWork
    409 https://doi.org/10.1073/pnas.1013343108 schema:sameAs https://app.dimensions.ai/details/publication/pub.1014312501
    410 rdf:type schema:CreativeWork
    411 https://doi.org/10.1073/pnas.1101219108 schema:sameAs https://app.dimensions.ai/details/publication/pub.1024418227
    412 rdf:type schema:CreativeWork
    413 https://doi.org/10.1073/pnas.90.6.2375 schema:sameAs https://app.dimensions.ai/details/publication/pub.1011065292
    414 rdf:type schema:CreativeWork
    415 https://doi.org/10.1074/jbc.m101219200 schema:sameAs https://app.dimensions.ai/details/publication/pub.1029622357
    416 rdf:type schema:CreativeWork
    417 https://doi.org/10.1074/jbc.m112.441055 schema:sameAs https://app.dimensions.ai/details/publication/pub.1030775632
    418 rdf:type schema:CreativeWork
    419 https://doi.org/10.1074/jbc.m513511200 schema:sameAs https://app.dimensions.ai/details/publication/pub.1019831522
    420 rdf:type schema:CreativeWork
    421 https://doi.org/10.1084/jem.20070823 schema:sameAs https://app.dimensions.ai/details/publication/pub.1008045185
    422 rdf:type schema:CreativeWork
    423 https://doi.org/10.1093/brain/awf184 schema:sameAs https://app.dimensions.ai/details/publication/pub.1027777625
    424 rdf:type schema:CreativeWork
    425 https://doi.org/10.1093/brain/awh650 schema:sameAs https://app.dimensions.ai/details/publication/pub.1022182101
    426 rdf:type schema:CreativeWork
    427 https://doi.org/10.1093/brain/awh683 schema:sameAs https://app.dimensions.ai/details/publication/pub.1023401972
    428 rdf:type schema:CreativeWork
    429 https://doi.org/10.1093/hmg/10.14.1449 schema:sameAs https://app.dimensions.ai/details/publication/pub.1013554493
    430 rdf:type schema:CreativeWork
    431 https://doi.org/10.1093/hmg/10.16.1693 schema:sameAs https://app.dimensions.ai/details/publication/pub.1046121454
    432 rdf:type schema:CreativeWork
    433 https://doi.org/10.1093/hmg/5.1.95 schema:sameAs https://app.dimensions.ai/details/publication/pub.1010443636
    434 rdf:type schema:CreativeWork
    435 https://doi.org/10.1093/hmg/9.8.1145 schema:sameAs https://app.dimensions.ai/details/publication/pub.1015749781
    436 rdf:type schema:CreativeWork
    437 https://doi.org/10.1093/hmg/ddg114 schema:sameAs https://app.dimensions.ai/details/publication/pub.1019701951
    438 rdf:type schema:CreativeWork
    439 https://doi.org/10.1093/hmg/ddi394 schema:sameAs https://app.dimensions.ai/details/publication/pub.1050154758
    440 rdf:type schema:CreativeWork
    441 https://doi.org/10.1093/hmg/ddp182 schema:sameAs https://app.dimensions.ai/details/publication/pub.1007260723
    442 rdf:type schema:CreativeWork
    443 https://doi.org/10.1093/hmg/ddp479 schema:sameAs https://app.dimensions.ai/details/publication/pub.1001320803
    444 rdf:type schema:CreativeWork
    445 https://doi.org/10.1093/hmg/ddp497 schema:sameAs https://app.dimensions.ai/details/publication/pub.1043004030
    446 rdf:type schema:CreativeWork
    447 https://doi.org/10.1093/hmg/ddq166 schema:sameAs https://app.dimensions.ai/details/publication/pub.1040071649
    448 rdf:type schema:CreativeWork
    449 https://doi.org/10.1093/hmg/ddq432 schema:sameAs https://app.dimensions.ai/details/publication/pub.1035400191
    450 rdf:type schema:CreativeWork
    451 https://doi.org/10.1093/hmg/ddr101 schema:sameAs https://app.dimensions.ai/details/publication/pub.1039267992
    452 rdf:type schema:CreativeWork
    453 https://doi.org/10.1093/hmg/ddr327 schema:sameAs https://app.dimensions.ai/details/publication/pub.1029151849
    454 rdf:type schema:CreativeWork
    455 https://doi.org/10.1093/hmg/dds118 schema:sameAs https://app.dimensions.ai/details/publication/pub.1022847934
    456 rdf:type schema:CreativeWork
    457 https://doi.org/10.1093/hmg/dds525 schema:sameAs https://app.dimensions.ai/details/publication/pub.1028285210
    458 rdf:type schema:CreativeWork
    459 https://doi.org/10.1093/hmg/ddu032 schema:sameAs https://app.dimensions.ai/details/publication/pub.1023055074
    460 rdf:type schema:CreativeWork
    461 https://doi.org/10.1093/nar/24.22.4407 schema:sameAs https://app.dimensions.ai/details/publication/pub.1037364757
    462 rdf:type schema:CreativeWork
    463 https://doi.org/10.1093/nar/gkm1136 schema:sameAs https://app.dimensions.ai/details/publication/pub.1045760975
    464 rdf:type schema:CreativeWork
    465 https://doi.org/10.1093/nar/gkr100 schema:sameAs https://app.dimensions.ai/details/publication/pub.1030490558
    466 rdf:type schema:CreativeWork
    467 https://doi.org/10.1097/00004703-200604002-00012 schema:sameAs https://app.dimensions.ai/details/publication/pub.1018341774
    468 rdf:type schema:CreativeWork
    469 https://doi.org/10.1111/gbb.12061 schema:sameAs https://app.dimensions.ai/details/publication/pub.1001297274
    470 rdf:type schema:CreativeWork
    471 https://doi.org/10.1111/j.1399-0004.2011.01723.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1009944924
    472 rdf:type schema:CreativeWork
    473 https://doi.org/10.1111/j.1471-4159.2008.05747.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1025009110
    474 rdf:type schema:CreativeWork
    475 https://doi.org/10.1111/j.1471-4159.2012.07936.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1003585391
    476 rdf:type schema:CreativeWork
    477 https://doi.org/10.1111/j.1528-1167.2012.03486.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1038889497
    478 rdf:type schema:CreativeWork
    479 https://doi.org/10.1126/science.252.5009.1179 schema:sameAs https://app.dimensions.ai/details/publication/pub.1062542083
    480 rdf:type schema:CreativeWork
    481 https://doi.org/10.1128/mcb.01676-12 schema:sameAs https://app.dimensions.ai/details/publication/pub.1002622065
    482 rdf:type schema:CreativeWork
    483 https://doi.org/10.1128/mcb.21.20.6927-6938.2001 schema:sameAs https://app.dimensions.ai/details/publication/pub.1051946521
    484 rdf:type schema:CreativeWork
    485 https://doi.org/10.1136/jmg.2003.012518 schema:sameAs https://app.dimensions.ai/details/publication/pub.1014762822
    486 rdf:type schema:CreativeWork
    487 https://doi.org/10.1172/jci43578 schema:sameAs https://app.dimensions.ai/details/publication/pub.1037714413
    488 rdf:type schema:CreativeWork
    489 https://doi.org/10.1212/wnl.57.1.127 schema:sameAs https://app.dimensions.ai/details/publication/pub.1064379717
    490 rdf:type schema:CreativeWork
    491 https://doi.org/10.1352/0895-8017(2004)109<154:aiiwtf>2.0.co;2 schema:sameAs https://app.dimensions.ai/details/publication/pub.1024635463
    492 rdf:type schema:CreativeWork
    493 https://doi.org/10.1369/0022155412441002 schema:sameAs https://app.dimensions.ai/details/publication/pub.1038983449
    494 rdf:type schema:CreativeWork
    495 https://doi.org/10.1371/journal.pgen.1002018 schema:sameAs https://app.dimensions.ai/details/publication/pub.1034719319
    496 rdf:type schema:CreativeWork
    497 https://doi.org/10.1371/journal.pgen.1002681 schema:sameAs https://app.dimensions.ai/details/publication/pub.1007968643
    498 rdf:type schema:CreativeWork
    499 https://doi.org/10.1371/journal.pone.0058296 schema:sameAs https://app.dimensions.ai/details/publication/pub.1008412008
    500 rdf:type schema:CreativeWork
    501 https://doi.org/10.1523/jneurosci.0828-08.2008 schema:sameAs https://app.dimensions.ai/details/publication/pub.1021456084
    502 rdf:type schema:CreativeWork
    503 https://doi.org/10.1523/jneurosci.2899-04.2005 schema:sameAs https://app.dimensions.ai/details/publication/pub.1023749909
    504 rdf:type schema:CreativeWork
    505 https://doi.org/10.1523/jneurosci.4815-07.2008 schema:sameAs https://app.dimensions.ai/details/publication/pub.1047185244
    506 rdf:type schema:CreativeWork
    507 https://doi.org/10.2174/138161208786264151 schema:sameAs https://app.dimensions.ai/details/publication/pub.1069166696
    508 rdf:type schema:CreativeWork
    509 https://doi.org/10.2217/fnl.09.44 schema:sameAs https://app.dimensions.ai/details/publication/pub.1020915606
    510 rdf:type schema:CreativeWork
    511 https://doi.org/10.2310/jim.0b013e3181af59d6 schema:sameAs https://app.dimensions.ai/details/publication/pub.1031197612
    512 rdf:type schema:CreativeWork
    513 https://doi.org/10.3389/fnins.2013.00001 schema:sameAs https://app.dimensions.ai/details/publication/pub.1050988772
    514 rdf:type schema:CreativeWork
    515 https://doi.org/10.3389/fnins.2013.00191 schema:sameAs https://app.dimensions.ai/details/publication/pub.1031140818
    516 rdf:type schema:CreativeWork
    517 https://doi.org/10.4161/rna.19760 schema:sameAs https://app.dimensions.ai/details/publication/pub.1072309958
    518 rdf:type schema:CreativeWork
    519 https://doi.org/10.4238/2012.march.1.4 schema:sameAs https://app.dimensions.ai/details/publication/pub.1072390992
    520 rdf:type schema:CreativeWork
    521 https://www.grid.ac/institutes/grid.27860.3b schema:alternateName University of California, Davis
    522 schema:name Department Molecular Biosciences, UC Davis, Davis, CA, USA
    523 Department of Neurological Surgery, Room 502C, UC Davis, 1515 Newton Court, 95618, Davis, CA, USA
    524 UC Davis M.I.N.D. Institute, Sacramento, CA, USA
    525 rdf:type schema:Organization
    526 https://www.grid.ac/institutes/grid.39382.33 schema:alternateName Baylor College of Medicine
    527 schema:name Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
    528 rdf:type schema:Organization
    529 https://www.grid.ac/institutes/grid.419635.c schema:alternateName National Institute of Diabetes and Digestive and Kidney Diseases
    530 schema:name NIDDK, National Institutes of Health, Bethesda, MD, USA
    531 rdf:type schema:Organization
    532 https://www.grid.ac/institutes/grid.420255.4 schema:alternateName Institute of Genetics and Molecular and Cellular Biology
    533 schema:name Department of Translational Medicine, IGBMC, Illkirch, France
    534 rdf:type schema:Organization
    535 https://www.grid.ac/institutes/grid.5284.b schema:alternateName University of Antwerp
    536 schema:name Department of Medical Genetics, University of Antwerp, Antwerp, Belgium
    537 rdf:type schema:Organization
    538 https://www.grid.ac/institutes/grid.5645.2 schema:alternateName Erasmus University Medical Center
    539 schema:name Department Clinical Genetics, Erasmus MC, Rotterdam, Netherlands
    540 rdf:type schema:Organization
    541 https://www.grid.ac/institutes/grid.9224.d schema:alternateName University of Seville
    542 schema:name University of Seville, School of Medicine, Seville, Spain
    543 rdf:type schema:Organization
     




    Preview window. Press ESC to close (or click here)


    ...