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The insertion of an ATTTC repeat in an Alu element hyperactivates a neurodevelopmental enhancer in spinocerebellar ataxia type 37.

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Title: The insertion of an ATTTC repeat in an Alu element hyperactivates a neurodevelopmental enhancer in spinocerebellar ataxia type 37.
Authors: Loureiro JR; Genetics of Cognitive Dysfunction Laboratory, i3S-Instituto de Investigação e Inovação em Saúde, Universidade do Porto, 4200-135 Porto, Portugal; IBMC- Institute for Molecular and Cell Biology, Universidade do Porto, 4200-135 Porto, Portugal; German Center for Neurodegenerative Diseases, 72076 Tübingen, Germany., Castro AF; Genetics of Cognitive Dysfunction Laboratory, i3S-Instituto de Investigação e Inovação em Saúde, Universidade do Porto, 4200-135 Porto, Portugal; IBMC- Institute for Molecular and Cell Biology, Universidade do Porto, 4200-135 Porto, Portugal; ICBAS, Universidade do Porto, 4050-313 Porto, Portugal., Figueiredo AS; Genetics of Cognitive Dysfunction Laboratory, i3S-Instituto de Investigação e Inovação em Saúde, Universidade do Porto, 4200-135 Porto, Portugal; IBMC- Institute for Molecular and Cell Biology, Universidade do Porto, 4200-135 Porto, Portugal; ICBAS, Universidade do Porto, 4050-313 Porto, Portugal., Eufrásio A; Genetics of Cognitive Dysfunction Laboratory, i3S-Instituto de Investigação e Inovação em Saúde, Universidade do Porto, 4200-135 Porto, Portugal; IBMC- Institute for Molecular and Cell Biology, Universidade do Porto, 4200-135 Porto, Portugal; Vertebrate Development and Regeneration Laboratory, i3S-Instituto de Investigação e Inovação em Saúde, Universidade do Porto, 4200-135 Porto, Portugal., Dhingra A; German Center for Neurodegenerative Diseases, 72076 Tübingen, Germany., Galhardo M; IBMC- Institute for Molecular and Cell Biology, Universidade do Porto, 4200-135 Porto, Portugal; Vertebrate Development and Regeneration Laboratory, i3S-Instituto de Investigação e Inovação em Saúde, Universidade do Porto, 4200-135 Porto, Portugal., Marcelino H; IBMC- Institute for Molecular and Cell Biology, Universidade do Porto, 4200-135 Porto, Portugal; Vertebrate Development and Regeneration Laboratory, i3S-Instituto de Investigação e Inovação em Saúde, Universidade do Porto, 4200-135 Porto, Portugal., Rodrigues CC; Genetics of Cognitive Dysfunction Laboratory, i3S-Instituto de Investigação e Inovação em Saúde, Universidade do Porto, 4200-135 Porto, Portugal; IBMC- Institute for Molecular and Cell Biology, Universidade do Porto, 4200-135 Porto, Portugal., Sampaio P; IBMC- Institute for Molecular and Cell Biology, Universidade do Porto, 4200-135 Porto, Portugal; Advanced Light Microscopy, i3S-Instituto de Investigação e Inovação em Saúde, Universidade do Porto, 4200-135 Porto, Portugal., Azevedo M; IBMC- Institute for Molecular and Cell Biology, Universidade do Porto, 4200-135 Porto, Portugal; Advanced Light Microscopy, i3S-Instituto de Investigação e Inovação em Saúde, Universidade do Porto, 4200-135 Porto, Portugal., Sousa M; IBMC- Institute for Molecular and Cell Biology, Universidade do Porto, 4200-135 Porto, Portugal; Advanced Light Microscopy, i3S-Instituto de Investigação e Inovação em Saúde, Universidade do Porto, 4200-135 Porto, Portugal., Dória S; Genetic Unit, Department of Pathology, Faculty of Medicine and RISE-Health, University of Porto, Porto, Portugal., Rizzu P; German Center for Neurodegenerative Diseases, 72076 Tübingen, Germany., Heutink P; German Center for Neurodegenerative Diseases, 72076 Tübingen, Germany., Bessa J; IBMC- Institute for Molecular and Cell Biology, Universidade do Porto, 4200-135 Porto, Portugal; Vertebrate Development and Regeneration Laboratory, i3S-Instituto de Investigação e Inovação em Saúde, Universidade do Porto, 4200-135 Porto, Portugal. Electronic address: jose.bessa@i3s.up.pt., Silveira I; Genetics of Cognitive Dysfunction Laboratory, i3S-Instituto de Investigação e Inovação em Saúde, Universidade do Porto, 4200-135 Porto, Portugal; IBMC- Institute for Molecular and Cell Biology, Universidade do Porto, 4200-135 Porto, Portugal. Electronic address: isilveir@i3s.up.pt.
Source: Cell reports [Cell Rep] 2026 Mar 22; Vol. 45 (4), pp. 117146. Date of Electronic Publication: 2026 Mar 22.
Publication Type: Journal Article
Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 101573691 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2211-1247 (Electronic) NLM ISO Abbreviation: Cell Rep Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: The insertion of an ATTTC repeat in an Alu element hyperactivates a neurodevelopmental enhancer in spinocerebellar ataxia type 37.
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  Data: <searchLink fieldCode="AU" term="%22Loureiro+JR%22">Loureiro JR</searchLink>; Genetics of Cognitive Dysfunction Laboratory, i3S-Instituto de Investigação e Inovação em Saúde, Universidade do Porto, 4200-135 Porto, Portugal; IBMC- Institute for Molecular and Cell Biology, Universidade do Porto, 4200-135 Porto, Portugal; German Center for Neurodegenerative Diseases, 72076 Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Castro+AF%22">Castro AF</searchLink>; Genetics of Cognitive Dysfunction Laboratory, i3S-Instituto de Investigação e Inovação em Saúde, Universidade do Porto, 4200-135 Porto, Portugal; IBMC- Institute for Molecular and Cell Biology, Universidade do Porto, 4200-135 Porto, Portugal; ICBAS, Universidade do Porto, 4050-313 Porto, Portugal.<br /><searchLink fieldCode="AU" term="%22Figueiredo+AS%22">Figueiredo AS</searchLink>; Genetics of Cognitive Dysfunction Laboratory, i3S-Instituto de Investigação e Inovação em Saúde, Universidade do Porto, 4200-135 Porto, Portugal; IBMC- Institute for Molecular and Cell Biology, Universidade do Porto, 4200-135 Porto, Portugal; ICBAS, Universidade do Porto, 4050-313 Porto, Portugal.<br /><searchLink fieldCode="AU" term="%22Eufrásio+A%22">Eufrásio A</searchLink>; Genetics of Cognitive Dysfunction Laboratory, i3S-Instituto de Investigação e Inovação em Saúde, Universidade do Porto, 4200-135 Porto, Portugal; IBMC- Institute for Molecular and Cell Biology, Universidade do Porto, 4200-135 Porto, Portugal; Vertebrate Development and Regeneration Laboratory, i3S-Instituto de Investigação e Inovação em Saúde, Universidade do Porto, 4200-135 Porto, Portugal.<br /><searchLink fieldCode="AU" term="%22Dhingra+A%22">Dhingra A</searchLink>; German Center for Neurodegenerative Diseases, 72076 Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Galhardo+M%22">Galhardo M</searchLink>; IBMC- Institute for Molecular and Cell Biology, Universidade do Porto, 4200-135 Porto, Portugal; Vertebrate Development and Regeneration Laboratory, i3S-Instituto de Investigação e Inovação em Saúde, Universidade do Porto, 4200-135 Porto, Portugal.<br /><searchLink fieldCode="AU" term="%22Marcelino+H%22">Marcelino H</searchLink>; IBMC- Institute for Molecular and Cell Biology, Universidade do Porto, 4200-135 Porto, Portugal; Vertebrate Development and Regeneration Laboratory, i3S-Instituto de Investigação e Inovação em Saúde, Universidade do Porto, 4200-135 Porto, Portugal.<br /><searchLink fieldCode="AU" term="%22Rodrigues+CC%22">Rodrigues CC</searchLink>; Genetics of Cognitive Dysfunction Laboratory, i3S-Instituto de Investigação e Inovação em Saúde, Universidade do Porto, 4200-135 Porto, Portugal; IBMC- Institute for Molecular and Cell Biology, Universidade do Porto, 4200-135 Porto, Portugal.<br /><searchLink fieldCode="AU" term="%22Sampaio+P%22">Sampaio P</searchLink>; IBMC- Institute for Molecular and Cell Biology, Universidade do Porto, 4200-135 Porto, Portugal; Advanced Light Microscopy, i3S-Instituto de Investigação e Inovação em Saúde, Universidade do Porto, 4200-135 Porto, Portugal.<br /><searchLink fieldCode="AU" term="%22Azevedo+M%22">Azevedo M</searchLink>; IBMC- Institute for Molecular and Cell Biology, Universidade do Porto, 4200-135 Porto, Portugal; Advanced Light Microscopy, i3S-Instituto de Investigação e Inovação em Saúde, Universidade do Porto, 4200-135 Porto, Portugal.<br /><searchLink fieldCode="AU" term="%22Sousa+M%22">Sousa M</searchLink>; IBMC- Institute for Molecular and Cell Biology, Universidade do Porto, 4200-135 Porto, Portugal; Advanced Light Microscopy, i3S-Instituto de Investigação e Inovação em Saúde, Universidade do Porto, 4200-135 Porto, Portugal.<br /><searchLink fieldCode="AU" term="%22Dória+S%22">Dória S</searchLink>; Genetic Unit, Department of Pathology, Faculty of Medicine and RISE-Health, University of Porto, Porto, Portugal.<br /><searchLink fieldCode="AU" term="%22Rizzu+P%22">Rizzu P</searchLink>; German Center for Neurodegenerative Diseases, 72076 Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Heutink+P%22">Heutink P</searchLink>; German Center for Neurodegenerative Diseases, 72076 Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Bessa+J%22">Bessa J</searchLink>; IBMC- Institute for Molecular and Cell Biology, Universidade do Porto, 4200-135 Porto, Portugal; Vertebrate Development and Regeneration Laboratory, i3S-Instituto de Investigação e Inovação em Saúde, Universidade do Porto, 4200-135 Porto, Portugal. Electronic address: jose.bessa@i3s.up.pt.<br /><searchLink fieldCode="AU" term="%22Silveira+I%22">Silveira I</searchLink>; Genetics of Cognitive Dysfunction Laboratory, i3S-Instituto de Investigação e Inovação em Saúde, Universidade do Porto, 4200-135 Porto, Portugal; IBMC- Institute for Molecular and Cell Biology, Universidade do Porto, 4200-135 Porto, Portugal. Electronic address: isilveir@i3s.up.pt.
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  Data: <searchLink fieldCode="JN" term="%22101573691%22">Cell reports</searchLink> [Cell Rep] 2026 Mar 22; Vol. 45 (4), pp. 117146. <i>Date of Electronic Publication: </i>2026 Mar 22.
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