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. |
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| 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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| ISSN: | 1757-4684 |
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| DOI: | 10.1038/s44321-026-00389-6 |
