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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.
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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  Data: A rare missense variant impacting NEK1 kinase function is associated with ALS.
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  Data: <searchLink fieldCode="AU" term="%22Brenner+D%22">Brenner D</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Ponomarenko+A%22">Ponomarenko A</searchLink>; Institute of Anatomy and Cell Biology, Ulm University School of Medicine, 89081, Ulm, Germany.<br /><searchLink fieldCode="AU" term="%22Petrut+I%22">Petrut I</searchLink>; Institute of Anatomy and Cell Biology, Ulm University School of Medicine, 89081, Ulm, Germany.<br /><searchLink fieldCode="AU" term="%22Beyrle+S%22">Beyrle S</searchLink>; Institute of Anatomy and Cell Biology, Ulm University School of Medicine, 89081, Ulm, Germany.<br /><searchLink fieldCode="AU" term="%22Contardo+M%22">Contardo M</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Loss+I%22">Loss I</searchLink>; Department of Neurology, University Hospital Ulm, 89081, Ulm, Germany.<br /><searchLink fieldCode="AU" term="%22Radke+C%22">Radke C</searchLink>; Institute of Neuropathology, RWTH Aachen University Hospital, Pauwelsstrasse 30, 52074, Aachen, Germany.<br /><searchLink fieldCode="AU" term="%22Frank+J%22">Frank J</searchLink>; Biomedical Informatics, Data Mining and Data Analytics, University of Augsburg, 86159, Augsburg, Germany.<br /><searchLink fieldCode="AU" term="%22Zimmer+E%22">Zimmer E</searchLink>; Institute of Molecular Oncology and Stem Cell Biology (IMOS), Ulm University Hospital, 89081, Ulm, Germany.<br /><searchLink fieldCode="AU" term="%22Schlesner+M%22">Schlesner M</searchLink>; Biomedical Informatics, Data Mining and Data Analytics, University of Augsburg, 86159, Augsburg, Germany.<br /><searchLink fieldCode="AU" term="%22Achenbach+P%22">Achenbach P</searchLink>; Institute of Neuropathology, RWTH Aachen University Hospital, Pauwelsstrasse 30, 52074, Aachen, Germany.<br /><searchLink fieldCode="AU" term="%22Scheveneels+W%22">Scheveneels W</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Aly+A%22">Aly A</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Nazlican+H%22">Nazlican H</searchLink>; Department of Neurology, Centre for ALS and Other Motor Neuron Disorders, Alfried Krupp Krankenhaus Rüttenscheid, 45131, Essen, Germany.<br /><searchLink fieldCode="AU" term="%22Hesebeck-Brinkmann+J%22">Hesebeck-Brinkmann J</searchLink>; Department of Neurology, University Hospital Ulm, 89081, Ulm, Germany.<br /><searchLink fieldCode="AU" term="%22Oeckl+P%22">Oeckl P</searchLink>; Department of Neurology, University Hospital Ulm, 89081, Ulm, Germany.; German Center for Neurodegenerative Diseases (DZNE), Ulm site, 89081, Ulm, Germany.<br /><searchLink fieldCode="AU" term="%22Müller+K%22">Müller K</searchLink>; Institute of Human Genetics, Ulm University and Ulm University Medical Center, Ulm, Germany.<br /><searchLink fieldCode="AU" term="%22Siebert+R%22">Siebert R</searchLink>; Center for Rare Diseases (ZSE) Ulm, Ulm University Hospital Center for Rare Diseases, 89081, Ulm, Germany.; Core Facility Organoids, Ulm University, 89081, Ulm, Germany.<br /><searchLink fieldCode="AU" term="%22Böckers+T%22">Böckers T</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22van+Eijk+K%22">van Eijk K</searchLink>; Department of Neurology, Brain Centre Rudolf Magnus, University Medical Centre Utrecht, Utrecht University, 3584 CG, Utrecht, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Veldink+J%22">Veldink J</searchLink>; Department of Neurology, Brain Centre Rudolf Magnus, University Medical Centre Utrecht, Utrecht University, 3584 CG, Utrecht, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Kleger+A%22">Kleger A</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Mulaw+M%22">Mulaw M</searchLink>; Unit for Single-Cell Genomics, Medical Faculty, Ulm University, 89081, Ulm, Germany.<br /><searchLink fieldCode="AU" term="%22Andersen+PM%22">Andersen PM</searchLink>; Department of Clinical Sciences, Neurosciences, Umeå University, Umeå, Sweden.<br /><searchLink fieldCode="AU" term="%22Forsberg+K%22">Forsberg K</searchLink>; Department of Clinical Sciences, Neurosciences, Umeå University, Umeå, Sweden.<br /><searchLink fieldCode="AU" term="%22Weishaupt+JH%22">Weishaupt JH</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Loghmani+SB%22">Loghmani SB</searchLink>; Department of Neurology, University Hospital Ulm, 89081, Ulm, Germany.<br /><searchLink fieldCode="AU" term="%22Grehl+T%22">Grehl T</searchLink>; Department of Neurology, Centre for ALS and Other Motor Neuron Disorders, Alfried Krupp Krankenhaus Rüttenscheid, 45131, Essen, Germany.<br /><searchLink fieldCode="AU" term="%22van+Damme+P%22">van Damme P</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Weis+J%22">Weis J</searchLink>; Institute of Neuropathology, RWTH Aachen University Hospital, Pauwelsstrasse 30, 52074, Aachen, Germany.<br /><searchLink fieldCode="AU" term="%22Catanese+A%22">Catanese A</searchLink>; 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.
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  Data: <searchLink fieldCode="JN" term="%22101610673%22">Acta neuropathologica communications</searchLink> [Acta Neuropathol Commun] 2026 Jun 25; Vol. 14 (1). <i>Date of Electronic Publication: </i>2026 Jun 25.
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