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Pathological disruption of CELF2 shuttling causes neuronal hyperactivity, learning deficits, and seizures.

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Title: Pathological disruption of CELF2 shuttling causes neuronal hyperactivity, learning deficits, and seizures.
Authors: Hua M; Department of Biochemistry and Molecular Biology and., Aghanoori MR; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada., MacPherson MJ; Department of Medical Genetics, University of Alberta, Edmonton, Alberta, Canada., Ren Y; Department of Cell Biology and Anatomy., Siripala SV; Department of Clinical Neuroscience, Cumming School of Medicine., Yang Y; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada., Or YYY; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada., Nguyen M; Department of Cell Biology and Anatomy., Duba-Kiss R; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.; Alberta Children's Hospital Research Institute.; Hotchkiss Brain Institute, Cumming School of Medicine; and., Feng D; Department of Cell Biology and Anatomy.; Hotchkiss Brain Institute, Cumming School of Medicine; and., Williams L; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada., Gafuik CJ; Alberta Children's Hospital Research Institute.; Annie Charbonneau Cancer Institute, University of Calgary, Calgary, Alberta, Canada., Wang G; Center for Neuroscience Research, School of Basic Medical Sciences, Chongqing Medical University, Chongqing, China., Quelin C; Service de Génétique Clinique, Centre de Référence «Anomalies du Développement et Syndromes Malformatifs» de l'Inter-région Ouest, CHU Rennes Hôpital Sud, Rennes, France., Keren B; Department of Genetics, La Pitié-Salpêtrière Hospital, Assistance Publique Hospital of Paris, Paris, France.; Sorbonne University, Paris, France., Schuhmann S; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany., Vasileiou G; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Department of Human Genetics, Hannover Medical School, Hannover, Germany., Bourgois A; Service de Génétique, Centre Hospitalier Universitaire de Caen, Caen, Basse-Normandie, France., Vitobello A; Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, Centre Neomics, FHU TRANSLAD, Centre de recherche Translationnelle en Médecine moléculaire - INSERM UMR1231, équipe GAD, Dijon, France., Philippe C; Laboratoire de Génétique, Hôpital de Mercy, CHR Metz-Thionville, Metz, France., Stark Z; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia., Leventer RJ; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia., McGillivray G; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Tran Mau-Them F; Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, Centre Neomics, FHU TRANSLAD, Centre de recherche Translationnelle en Médecine moléculaire - INSERM UMR1231, équipe GAD, Dijon, France., Tessarech M; Department of Medical Genetics, Angers University Hospital, Angers, France.; Mitovasc Unit, UMR CNRS 6015 INSERM 1083, University of Angers, Angers, France., Prouteau C; Service de Génétique Médicale, CHU d'Angers, Angers, France., Lakeman P; Amsterdam UMC, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands.; Amsterdam Reproduction & Development Research Institute, Amsterdam, Netherlands., Motazacker MM; Amsterdam UMC, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands., Latner DR; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama, USA., Caylor RC; Greenwood Genetic Center, Greenwood, South Carolina, USA., van Ierland Y; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands., Prijoles E; Greenwood Genetic Center, Greenwood, South Carolina, USA., Lichty A; Greenwood Genetic Center, Greenwood, South Carolina, USA., Theodorou E; Center for Genomic Medicine, Divisions of Pediatric Hematology/Oncology and Medical Genetics and Metabolism, Department of Pediatrics, Massachusetts General Hospital, Boston, Massachusetts, USA., Sweetser DA; Center for Genomic Medicine, Divisions of Pediatric Hematology/Oncology and Medical Genetics and Metabolism, Department of Pediatrics, Massachusetts General Hospital, Boston, Massachusetts, USA., Steel E; Clinical Genetics, Great Ormond Street Hospital, London, United Kingdom., Cobben J; Section of Genomics and Genetics, Imperial College London, London, United Kingdom., Dasouki MJ; AdventHealth Genomics & Personalized Health at Orlando, Department of Medical Genetics & Genomics, Orlando, Florida, USA., Calame DG; Section of Pediatric Neurology and Developmental Neurosciences, Department of Pediatrics, and.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, Texas, USA., Isidor B; Nantes Université, CHU de Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France., Cogné B; Nantes Université, CHU de Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France., Kesler M; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.; Alberta Children's Hospital Research Institute.; Hotchkiss Brain Institute, Cumming School of Medicine; and., Rackel B; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada., Clark I; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada., Kurrasch DM; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.; Alberta Children's Hospital Research Institute.; Hotchkiss Brain Institute, Cumming School of Medicine; and., Teskey GC; Department of Cell Biology and Anatomy., Ellis J; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada., He G; Center for Neuroscience Research, School of Basic Medical Sciences, Chongqing Medical University, Chongqing, China., Ryan SD; Department of Clinical Neuroscience, Cumming School of Medicine., Mahoney DJ; Department of Biochemistry and Molecular Biology and.; Alberta Children's Hospital Research Institute.; Annie Charbonneau Cancer Institute, University of Calgary, Calgary, Alberta, Canada.; Department of Microbiology, Immunology and Infectious Diseases, Snyder Institute for Chronic Diseases, and., Innes AM; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.; Alberta Children's Hospital Research Institute., Epp JR; Department of Cell Biology and Anatomy.; Hotchkiss Brain Institute, Cumming School of Medicine; and., Yang G; Department of Biochemistry and Molecular Biology and.; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.; Alberta Children's Hospital Research Institute.; Hotchkiss Brain Institute, Cumming School of Medicine; and.; Owerko Center, University of Calgary, Calgary, Alberta, Canada.
Source: The Journal of clinical investigation [J Clin Invest] 2026 Jun 11; Vol. 136 (14). Date of Electronic Publication: 2026 Jun 11 (Print Publication: 2026).
Publication Type: Journal Article
Journal Info: Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model: eCollection Cited Medium: Internet ISSN: 1558-8238 (Electronic) Linking ISSN: 00219738 NLM ISO Abbreviation: J Clin Invest Subsets: MEDLINE
Database: MEDLINE Ultimate
FullText Text:
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PubType: Academic Journal
PubTypeId: academicJournal
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  Data: Pathological disruption of CELF2 shuttling causes neuronal hyperactivity, learning deficits, and seizures.
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  Data: <searchLink fieldCode="AU" term="%22Hua+M%22">Hua M</searchLink>; Department of Biochemistry and Molecular Biology and.<br /><searchLink fieldCode="AU" term="%22Aghanoori+MR%22">Aghanoori MR</searchLink>; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.<br /><searchLink fieldCode="AU" term="%22MacPherson+MJ%22">MacPherson MJ</searchLink>; Department of Medical Genetics, University of Alberta, Edmonton, Alberta, Canada.<br /><searchLink fieldCode="AU" term="%22Ren+Y%22">Ren Y</searchLink>; Department of Cell Biology and Anatomy.<br /><searchLink fieldCode="AU" term="%22Siripala+SV%22">Siripala SV</searchLink>; Department of Clinical Neuroscience, Cumming School of Medicine.<br /><searchLink fieldCode="AU" term="%22Yang+Y%22">Yang Y</searchLink>; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.<br /><searchLink fieldCode="AU" term="%22Or+YYY%22">Or YYY</searchLink>; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.<br /><searchLink fieldCode="AU" term="%22Nguyen+M%22">Nguyen M</searchLink>; Department of Cell Biology and Anatomy.<br /><searchLink fieldCode="AU" term="%22Duba-Kiss+R%22">Duba-Kiss R</searchLink>; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.; Alberta Children's Hospital Research Institute.; Hotchkiss Brain Institute, Cumming School of Medicine; and.<br /><searchLink fieldCode="AU" term="%22Feng+D%22">Feng D</searchLink>; Department of Cell Biology and Anatomy.; Hotchkiss Brain Institute, Cumming School of Medicine; and.<br /><searchLink fieldCode="AU" term="%22Williams+L%22">Williams L</searchLink>; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.<br /><searchLink fieldCode="AU" term="%22Gafuik+CJ%22">Gafuik CJ</searchLink>; Alberta Children's Hospital Research Institute.; Annie Charbonneau Cancer Institute, University of Calgary, Calgary, Alberta, Canada.<br /><searchLink fieldCode="AU" term="%22Wang+G%22">Wang G</searchLink>; Center for Neuroscience Research, School of Basic Medical Sciences, Chongqing Medical University, Chongqing, China.<br /><searchLink fieldCode="AU" term="%22Quelin+C%22">Quelin C</searchLink>; Service de Génétique Clinique, Centre de Référence «Anomalies du Développement et Syndromes Malformatifs» de l'Inter-région Ouest, CHU Rennes Hôpital Sud, Rennes, France.<br /><searchLink fieldCode="AU" term="%22Keren+B%22">Keren B</searchLink>; Department of Genetics, La Pitié-Salpêtrière Hospital, Assistance Publique Hospital of Paris, Paris, France.; Sorbonne University, Paris, France.<br /><searchLink fieldCode="AU" term="%22Schuhmann+S%22">Schuhmann S</searchLink>; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.<br /><searchLink fieldCode="AU" term="%22Vasileiou+G%22">Vasileiou G</searchLink>; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Department of Human Genetics, Hannover Medical School, Hannover, Germany.<br /><searchLink fieldCode="AU" term="%22Bourgois+A%22">Bourgois A</searchLink>; Service de Génétique, Centre Hospitalier Universitaire de Caen, Caen, Basse-Normandie, France.<br /><searchLink fieldCode="AU" term="%22Vitobello+A%22">Vitobello A</searchLink>; Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, Centre Neomics, FHU TRANSLAD, Centre de recherche Translationnelle en Médecine moléculaire - INSERM UMR1231, équipe GAD, Dijon, France.<br /><searchLink fieldCode="AU" term="%22Philippe+C%22">Philippe C</searchLink>; Laboratoire de Génétique, Hôpital de Mercy, CHR Metz-Thionville, Metz, France.<br /><searchLink fieldCode="AU" term="%22Stark+Z%22">Stark Z</searchLink>; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Leventer+RJ%22">Leventer RJ</searchLink>; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22McGillivray+G%22">McGillivray G</searchLink>; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Tran+Mau-Them+F%22">Tran Mau-Them F</searchLink>; Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, Centre Neomics, FHU TRANSLAD, Centre de recherche Translationnelle en Médecine moléculaire - INSERM UMR1231, équipe GAD, Dijon, France.<br /><searchLink fieldCode="AU" term="%22Tessarech+M%22">Tessarech M</searchLink>; Department of Medical Genetics, Angers University Hospital, Angers, France.; Mitovasc Unit, UMR CNRS 6015 INSERM 1083, University of Angers, Angers, France.<br /><searchLink fieldCode="AU" term="%22Prouteau+C%22">Prouteau C</searchLink>; Service de Génétique Médicale, CHU d'Angers, Angers, France.<br /><searchLink fieldCode="AU" term="%22Lakeman+P%22">Lakeman P</searchLink>; Amsterdam UMC, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands.; Amsterdam Reproduction & Development Research Institute, Amsterdam, Netherlands.<br /><searchLink fieldCode="AU" term="%22Motazacker+MM%22">Motazacker MM</searchLink>; Amsterdam UMC, Department of Human Genetics, University of Amsterdam, Amsterdam, Netherlands.<br /><searchLink fieldCode="AU" term="%22Latner+DR%22">Latner DR</searchLink>; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama, USA.<br /><searchLink fieldCode="AU" term="%22Caylor+RC%22">Caylor RC</searchLink>; Greenwood Genetic Center, Greenwood, South Carolina, USA.<br /><searchLink fieldCode="AU" term="%22van+Ierland+Y%22">van Ierland Y</searchLink>; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands.<br /><searchLink fieldCode="AU" term="%22Prijoles+E%22">Prijoles E</searchLink>; Greenwood Genetic Center, Greenwood, South Carolina, USA.<br /><searchLink fieldCode="AU" term="%22Lichty+A%22">Lichty A</searchLink>; Greenwood Genetic Center, Greenwood, South Carolina, USA.<br /><searchLink fieldCode="AU" term="%22Theodorou+E%22">Theodorou E</searchLink>; Center for Genomic Medicine, Divisions of Pediatric Hematology/Oncology and Medical Genetics and Metabolism, Department of Pediatrics, Massachusetts General Hospital, Boston, Massachusetts, USA.<br /><searchLink fieldCode="AU" term="%22Sweetser+DA%22">Sweetser DA</searchLink>; Center for Genomic Medicine, Divisions of Pediatric Hematology/Oncology and Medical Genetics and Metabolism, Department of Pediatrics, Massachusetts General Hospital, Boston, Massachusetts, USA.<br /><searchLink fieldCode="AU" term="%22Steel+E%22">Steel E</searchLink>; Clinical Genetics, Great Ormond Street Hospital, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Cobben+J%22">Cobben J</searchLink>; Section of Genomics and Genetics, Imperial College London, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Dasouki+MJ%22">Dasouki MJ</searchLink>; AdventHealth Genomics & Personalized Health at Orlando, Department of Medical Genetics & Genomics, Orlando, Florida, USA.<br /><searchLink fieldCode="AU" term="%22Calame+DG%22">Calame DG</searchLink>; Section of Pediatric Neurology and Developmental Neurosciences, Department of Pediatrics, and.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, Texas, USA.<br /><searchLink fieldCode="AU" term="%22Isidor+B%22">Isidor B</searchLink>; Nantes Université, CHU de Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Cogné+B%22">Cogné B</searchLink>; Nantes Université, CHU de Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Kesler+M%22">Kesler M</searchLink>; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.; Alberta Children's Hospital Research Institute.; Hotchkiss Brain Institute, Cumming School of Medicine; and.<br /><searchLink fieldCode="AU" term="%22Rackel+B%22">Rackel B</searchLink>; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.<br /><searchLink fieldCode="AU" term="%22Clark+I%22">Clark I</searchLink>; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.<br /><searchLink fieldCode="AU" term="%22Kurrasch+DM%22">Kurrasch DM</searchLink>; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.; Alberta Children's Hospital Research Institute.; Hotchkiss Brain Institute, Cumming School of Medicine; and.<br /><searchLink fieldCode="AU" term="%22Teskey+GC%22">Teskey GC</searchLink>; Department of Cell Biology and Anatomy.<br /><searchLink fieldCode="AU" term="%22Ellis+J%22">Ellis J</searchLink>; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22He+G%22">He G</searchLink>; Center for Neuroscience Research, School of Basic Medical Sciences, Chongqing Medical University, Chongqing, China.<br /><searchLink fieldCode="AU" term="%22Ryan+SD%22">Ryan SD</searchLink>; Department of Clinical Neuroscience, Cumming School of Medicine.<br /><searchLink fieldCode="AU" term="%22Mahoney+DJ%22">Mahoney DJ</searchLink>; Department of Biochemistry and Molecular Biology and.; Alberta Children's Hospital Research Institute.; Annie Charbonneau Cancer Institute, University of Calgary, Calgary, Alberta, Canada.; Department of Microbiology, Immunology and Infectious Diseases, Snyder Institute for Chronic Diseases, and.<br /><searchLink fieldCode="AU" term="%22Innes+AM%22">Innes AM</searchLink>; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.; Alberta Children's Hospital Research Institute.<br /><searchLink fieldCode="AU" term="%22Epp+JR%22">Epp JR</searchLink>; Department of Cell Biology and Anatomy.; Hotchkiss Brain Institute, Cumming School of Medicine; and.<br /><searchLink fieldCode="AU" term="%22Yang+G%22">Yang G</searchLink>; Department of Biochemistry and Molecular Biology and.; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.; Alberta Children's Hospital Research Institute.; Hotchkiss Brain Institute, Cumming School of Medicine; and.; Owerko Center, University of Calgary, Calgary, Alberta, Canada.
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  Data: <searchLink fieldCode="JN" term="%227802877%22">The Journal of clinical investigation</searchLink> [J Clin Invest] 2026 Jun 11; Vol. 136 (14). <i>Date of Electronic Publication: </i>2026 Jun 11 (<i>Print Publication: </i>2026).
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            NameFull: He G
      – PersonEntity:
          Name:
            NameFull: Ryan SD
      – PersonEntity:
          Name:
            NameFull: Mahoney DJ
      – PersonEntity:
          Name:
            NameFull: Innes AM
      – PersonEntity:
          Name:
            NameFull: Epp JR
      – PersonEntity:
          Name:
            NameFull: Yang G
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 11
              M: 06
              Text: 2026 Jun 11
              Type: published
              Y: 2026
          Identifiers:
            – Type: issn-electronic
              Value: 1558-8238
          Numbering:
            – Type: volume
              Value: 136
            – Type: issue
              Value: 14
          Titles:
            – TitleFull: The Journal of clinical investigation
              Type: main
ResultId 1