A rare missense variant impacting NEK1 kinase function is associated with ALS.
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| Title: | A rare missense variant impacting NEK1 kinase function is associated with ALS. |
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| Authors: | Brenner D; Department of Neurology, University Hospital Ulm, 89081, Ulm, Germany. david.brenner@uni-ulm.de.; Center for Rare Diseases (ZSE) Ulm, Ulm University Hospital Center for Rare Diseases, 89081, Ulm, Germany. david.brenner@uni-ulm.de.; German Center for Neurodegenerative Diseases (DZNE), Ulm site, 89081, Ulm, Germany. david.brenner@uni-ulm.de., Ponomarenko A; Institute of Anatomy and Cell Biology, Ulm University School of Medicine, 89081, Ulm, Germany., Petrut I; Institute of Anatomy and Cell Biology, Ulm University School of Medicine, 89081, Ulm, Germany., Beyrle S; Institute of Anatomy and Cell Biology, Ulm University School of Medicine, 89081, Ulm, Germany., Contardo M; Department of Neurosciences, Laboratory of Neurobiology and Leuven Brain Institute (LBI), KU Leuven-University of Leuven, 3000, Leuven, Belgium.; VIB, Center for Brain & Disease Research, 3001, Leuven, Belgium., Loss I; Department of Neurology, University Hospital Ulm, 89081, Ulm, Germany., Radke C; Institute of Neuropathology, RWTH Aachen University Hospital, Pauwelsstrasse 30, 52074, Aachen, Germany., Frank J; Biomedical Informatics, Data Mining and Data Analytics, University of Augsburg, 86159, Augsburg, Germany., Zimmer E; Institute of Molecular Oncology and Stem Cell Biology (IMOS), Ulm University Hospital, 89081, Ulm, Germany., Schlesner M; Biomedical Informatics, Data Mining and Data Analytics, University of Augsburg, 86159, Augsburg, Germany., Achenbach P; Institute of Neuropathology, RWTH Aachen University Hospital, Pauwelsstrasse 30, 52074, Aachen, Germany., Scheveneels W; Department of Neurosciences, Laboratory of Neurobiology and Leuven Brain Institute (LBI), KU Leuven-University of Leuven, 3000, Leuven, Belgium.; VIB, Center for Brain & Disease Research, 3001, Leuven, Belgium., Aly A; Institute of Anatomy and Cell Biology, Ulm University School of Medicine, 89081, Ulm, Germany.; Brain Science Institute, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Nazlican H; Department of Neurology, Centre for ALS and Other Motor Neuron Disorders, Alfried Krupp Krankenhaus Rüttenscheid, 45131, Essen, Germany., Hesebeck-Brinkmann J; Department of Neurology, University Hospital Ulm, 89081, Ulm, Germany., Oeckl P; Department of Neurology, University Hospital Ulm, 89081, Ulm, Germany.; German Center for Neurodegenerative Diseases (DZNE), Ulm site, 89081, Ulm, Germany., Müller K; Institute of Human Genetics, Ulm University and Ulm University Medical Center, Ulm, Germany., Siebert R; Center for Rare Diseases (ZSE) Ulm, Ulm University Hospital Center for Rare Diseases, 89081, Ulm, Germany.; Core Facility Organoids, Ulm University, 89081, Ulm, Germany., Böckers T; German Center for Neurodegenerative Diseases (DZNE), Ulm site, 89081, Ulm, Germany.; Institute of Anatomy and Cell Biology, Ulm University School of Medicine, 89081, Ulm, Germany., van Eijk K; Department of Neurology, Brain Centre Rudolf Magnus, University Medical Centre Utrecht, Utrecht University, 3584 CG, Utrecht, The Netherlands., Veldink J; Department of Neurology, Brain Centre Rudolf Magnus, University Medical Centre Utrecht, Utrecht University, 3584 CG, Utrecht, The Netherlands., Kleger A; Center for Rare Diseases (ZSE) Ulm, Ulm University Hospital Center for Rare Diseases, 89081, Ulm, Germany.; Institute of Molecular Oncology and Stem Cell Biology (IMOS), Ulm University Hospital, 89081, Ulm, Germany.; Division of Interdisciplinary Pancreatology, Department of Internal Medicine I, Ulm University Hospital, 89081, Ulm, Germany.; Core Facility Organoids, Ulm University, 89081, Ulm, Germany., Mulaw M; Unit for Single-Cell Genomics, Medical Faculty, Ulm University, 89081, Ulm, Germany., Andersen PM; Department of Clinical Sciences, Neurosciences, Umeå University, Umeå, Sweden., Forsberg K; Department of Clinical Sciences, Neurosciences, Umeå University, Umeå, Sweden., Weishaupt JH; Department of Neurology, University Hospital Ulm, 89081, Ulm, Germany.; Center for Rare Diseases (ZSE) Ulm, Ulm University Hospital Center for Rare Diseases, 89081, Ulm, Germany.; German Center for Neurodegenerative Diseases (DZNE), Ulm site, 89081, Ulm, Germany., Loghmani SB; Department of Neurology, University Hospital Ulm, 89081, Ulm, Germany., Grehl T; Department of Neurology, Centre for ALS and Other Motor Neuron Disorders, Alfried Krupp Krankenhaus Rüttenscheid, 45131, Essen, Germany., van Damme P; Department of Neurosciences, Laboratory of Neurobiology and Leuven Brain Institute (LBI), KU Leuven-University of Leuven, 3000, Leuven, Belgium.; Department of Neurology, University Hospitals Leuven, 3000, Leuven, Belgium., Weis J; Institute of Neuropathology, RWTH Aachen University Hospital, Pauwelsstrasse 30, 52074, Aachen, Germany., Catanese A; German Center for Neurodegenerative Diseases (DZNE), Ulm site, 89081, Ulm, Germany. acatanese@ukaachen.de.; Institute of Anatomy and Cell Biology, Ulm University School of Medicine, 89081, Ulm, Germany. acatanese@ukaachen.de.; Institute of Neuroanatomy, University Clinic RWTH Aachen, Wendlingweg 2, 52074, Aachen, Germany. acatanese@ukaachen.de. |
| Source: | Acta neuropathologica communications [Acta Neuropathol Commun] 2026 Jun 25; Vol. 14 (1). Date of Electronic Publication: 2026 Jun 25. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: BioMed Central Country of Publication: England NLM ID: 101610673 Publication Model: Electronic Cited Medium: Internet ISSN: 2051-5960 (Electronic) Linking ISSN: 20515960 NLM ISO Abbreviation: Acta Neuropathol Commun Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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