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Encephalopathy-linked UFM1 variants impede neuronal protein translation, development, and function.

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Title: Encephalopathy-linked UFM1 variants impede neuronal protein translation, development, and function.
Authors: Perdigão C; Max Planck Institute for Multidisciplinary Sciences, Department of Molecular Neurobiology, Göttingen, Germany., Torres J; Max Planck Institute for Multidisciplinary Sciences, Department of Molecular Neurobiology, Göttingen, Germany., Magnussen HM; MRC Protein Phosphorylation and Ubiquitylation Unit, School of Life Sciences, University of Dundee, Dundee, UK., Koch J; Institute of Cell Biology and Neurobiology, Charité-Universitätsmedizin Berlin, Berlin, Germany., Rudashevskaya E; Max Planck Institute for Multidisciplinary Sciences, Department of Molecular Neurobiology, Göttingen, Germany., Moschref F; Max Planck Institute for Multidisciplinary Sciences, Department of Molecular Neurobiology, Göttingen, Germany., Fiosins M; Institute of Medical Systems Bioinformatics, Centers for Biomedical AI (bAIome), Center for Molecular Neurobiology (ZMNH) and Translational Immunology (HCTI), University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Benseler F; Max Planck Institute for Multidisciplinary Sciences, Department of Molecular Neurobiology, Göttingen, Germany., Wenger S; Max Planck Institute for Multidisciplinary Sciences, Department of Molecular Neurobiology, Göttingen, Germany., Nilsson T; Max Planck Institute for Multidisciplinary Sciences, Department of Molecular Neurobiology, Göttingen, Germany., Beuermann S; Max Planck Institute for Multidisciplinary Sciences, Department of Molecular Neurobiology, Göttingen, Germany., Bonn S; Institute of Medical Systems Bioinformatics, Centers for Biomedical AI (bAIome), Center for Molecular Neurobiology (ZMNH) and Translational Immunology (HCTI), University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; German Center for Child and Adolescent Health (DZKJ), Partner Site Hamburg, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Rizzoli SO; Department of Neuro- and Sensory Physiology, University Medical Center Göttingen, Göttingen, Germany., Kulathu Y; MRC Protein Phosphorylation and Ubiquitylation Unit, School of Life Sciences, University of Dundee, Dundee, UK., Jahn O; Max Planck Institute for Multidisciplinary Sciences, Department of Molecular Neurobiology, Göttingen, Germany.; Department of Psychiatry and Psychotherapy, University Medical Center Göttingen, Göttingen, Germany., Cooper BH; Max Planck Institute for Multidisciplinary Sciences, Department of Molecular Neurobiology, Göttingen, Germany., Ambrozkiewicz MC; Institute of Cell Biology and Neurobiology, Charité-Universitätsmedizin Berlin, Berlin, Germany., Rhee J; Max Planck Institute for Multidisciplinary Sciences, Department of Molecular Neurobiology, Göttingen, Germany., Brose N; Max Planck Institute for Multidisciplinary Sciences, Department of Molecular Neurobiology, Göttingen, Germany. Brose@mpinat.mpg.de., Tirard M; Max Planck Institute for Multidisciplinary Sciences, Department of Molecular Neurobiology, Göttingen, Germany. Tirard@mpinat.mpg.de.
Source: EMBO molecular medicine [EMBO Mol Med] 2026 Apr; Vol. 18 (4), pp. 1265-1291. Date of Electronic Publication: 2026 Feb 23.
Publication Type: Journal Article
Journal Info: Publisher: EMBO Press Country of Publication: Germany NLM ID: 101487380 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1757-4684 (Electronic) Linking ISSN: 17574676 NLM ISO Abbreviation: EMBO Mol Med Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Encephalopathy-linked UFM1 variants impede neuronal protein translation, development, and function.
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  Data: <searchLink fieldCode="AU" term="%22Perdigão+C%22">Perdigão C</searchLink>; Max Planck Institute for Multidisciplinary Sciences, Department of Molecular Neurobiology, Göttingen, Germany.<br /><searchLink fieldCode="AU" term="%22Torres+J%22">Torres J</searchLink>; Max Planck Institute for Multidisciplinary Sciences, Department of Molecular Neurobiology, Göttingen, Germany.<br /><searchLink fieldCode="AU" term="%22Magnussen+HM%22">Magnussen HM</searchLink>; MRC Protein Phosphorylation and Ubiquitylation Unit, School of Life Sciences, University of Dundee, Dundee, UK.<br /><searchLink fieldCode="AU" term="%22Koch+J%22">Koch J</searchLink>; Institute of Cell Biology and Neurobiology, Charité-Universitätsmedizin Berlin, Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Rudashevskaya+E%22">Rudashevskaya E</searchLink>; Max Planck Institute for Multidisciplinary Sciences, Department of Molecular Neurobiology, Göttingen, Germany.<br /><searchLink fieldCode="AU" term="%22Moschref+F%22">Moschref F</searchLink>; Max Planck Institute for Multidisciplinary Sciences, Department of Molecular Neurobiology, Göttingen, Germany.<br /><searchLink fieldCode="AU" term="%22Fiosins+M%22">Fiosins M</searchLink>; Institute of Medical Systems Bioinformatics, Centers for Biomedical AI (bAIome), Center for Molecular Neurobiology (ZMNH) and Translational Immunology (HCTI), University Medical Center Hamburg-Eppendorf, Hamburg, Germany.<br /><searchLink fieldCode="AU" term="%22Benseler+F%22">Benseler F</searchLink>; Max Planck Institute for Multidisciplinary Sciences, Department of Molecular Neurobiology, Göttingen, Germany.<br /><searchLink fieldCode="AU" term="%22Wenger+S%22">Wenger S</searchLink>; Max Planck Institute for Multidisciplinary Sciences, Department of Molecular Neurobiology, Göttingen, Germany.<br /><searchLink fieldCode="AU" term="%22Nilsson+T%22">Nilsson T</searchLink>; Max Planck Institute for Multidisciplinary Sciences, Department of Molecular Neurobiology, Göttingen, Germany.<br /><searchLink fieldCode="AU" term="%22Beuermann+S%22">Beuermann S</searchLink>; Max Planck Institute for Multidisciplinary Sciences, Department of Molecular Neurobiology, Göttingen, Germany.<br /><searchLink fieldCode="AU" term="%22Bonn+S%22">Bonn S</searchLink>; Institute of Medical Systems Bioinformatics, Centers for Biomedical AI (bAIome), Center for Molecular Neurobiology (ZMNH) and Translational Immunology (HCTI), University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; German Center for Child and Adolescent Health (DZKJ), Partner Site Hamburg, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.<br /><searchLink fieldCode="AU" term="%22Rizzoli+SO%22">Rizzoli SO</searchLink>; Department of Neuro- and Sensory Physiology, University Medical Center Göttingen, Göttingen, Germany.<br /><searchLink fieldCode="AU" term="%22Kulathu+Y%22">Kulathu Y</searchLink>; MRC Protein Phosphorylation and Ubiquitylation Unit, School of Life Sciences, University of Dundee, Dundee, UK.<br /><searchLink fieldCode="AU" term="%22Jahn+O%22">Jahn O</searchLink>; Max Planck Institute for Multidisciplinary Sciences, Department of Molecular Neurobiology, Göttingen, Germany.; Department of Psychiatry and Psychotherapy, University Medical Center Göttingen, Göttingen, Germany.<br /><searchLink fieldCode="AU" term="%22Cooper+BH%22">Cooper BH</searchLink>; Max Planck Institute for Multidisciplinary Sciences, Department of Molecular Neurobiology, Göttingen, Germany.<br /><searchLink fieldCode="AU" term="%22Ambrozkiewicz+MC%22">Ambrozkiewicz MC</searchLink>; Institute of Cell Biology and Neurobiology, Charité-Universitätsmedizin Berlin, Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Rhee+J%22">Rhee J</searchLink>; Max Planck Institute for Multidisciplinary Sciences, Department of Molecular Neurobiology, Göttingen, Germany.<br /><searchLink fieldCode="AU" term="%22Brose+N%22">Brose N</searchLink>; Max Planck Institute for Multidisciplinary Sciences, Department of Molecular Neurobiology, Göttingen, Germany. Brose@mpinat.mpg.de.<br /><searchLink fieldCode="AU" term="%22Tirard+M%22">Tirard M</searchLink>; Max Planck Institute for Multidisciplinary Sciences, Department of Molecular Neurobiology, Göttingen, Germany. Tirard@mpinat.mpg.de.
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  Data: <searchLink fieldCode="JN" term="%22101487380%22">EMBO molecular medicine</searchLink> [EMBO Mol Med] 2026 Apr; Vol. 18 (4), pp. 1265-1291. <i>Date of Electronic Publication: </i>2026 Feb 23.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22EMBO+Press%22">EMBO Press </searchLink><i>Country of Publication: </i>Germany <i>NLM ID: </i>101487380 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1757-4684 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2217574676%22">17574676 </searchLink><i>NLM ISO Abbreviation: </i>EMBO Mol Med <i>Subsets: </i>MEDLINE
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