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Integrative genetic...
Integrative genetic analysis illuminates ALS heritability and identifies risk genes
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- Megat, Salim (author)
- Université de Strasbourg, Inserm, Mécanismes centraux et périphériques de la neurodégénérescence, UMR-S1118, Centre de Recherches en Biomédecine, Strasbourg, France
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- Mora, Natalia (author)
- Department of Molecular Neurobiology, Donders Institute for Brain, Cognition and Behaviour and Faculty of Science, Radboud University, Nijmegen, Netherlands
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- Sanogo, Jason (author)
- Université de Strasbourg, Inserm, Mécanismes centraux et périphériques de la neurodégénérescence, UMR-S1118, Centre de Recherches en Biomédecine, Strasbourg, France
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- Roman, Olga (author)
- Université de Strasbourg, Inserm, Mécanismes centraux et périphériques de la neurodégénérescence, UMR-S1118, Centre de Recherches en Biomédecine, Strasbourg, France
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- Catanese, Alberto (author)
- Institute of Anatomy and Cell Biology, Ulm University, Ulm, Germany; German Center for Neurodegenerative Diseases (DZNE) Ulm, Ulm, Germany
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- Alami, Najwa Ouali (author)
- Clinical Neuroanatomy, Department of Neurology, Ulm University, Ulm, Germany
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- Freischmidt, Axel (author)
- German Center for Neurodegenerative Diseases (DZNE) Ulm, Ulm, Germany; Department of Neurology, Ulm University, Ulm, Germany
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- Mingaj, Xhuljana (author)
- Laboratory of Translational Research for Neurological Disorders, Imagine Institute, Université de Paris, INSERM UMR 1163, Paris, France
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- De Calbiac, Hortense (author)
- Laboratory of Translational Research for Neurological Disorders, Imagine Institute, Université de Paris, INSERM UMR 1163, Paris, France
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- Muratet, François (author)
- Sorbonne Université, Institut du Cerveau ‐ Paris Brain Institute ‐ ICM, Inserm, CNRS, APHP, Hôpital de la Pitié Salpêtrière, Paris, France
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- Dirrig-Grosch, Sylvie (author)
- Université de Strasbourg, Inserm, Mécanismes centraux et périphériques de la neurodégénérescence, UMR-S1118, Centre de Recherches en Biomédecine, Strasbourg, France
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- Dieterle, Stéphane (author)
- Université de Strasbourg, Inserm, Mécanismes centraux et périphériques de la neurodégénérescence, UMR-S1118, Centre de Recherches en Biomédecine, Strasbourg, France
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- Van Bakel, Nick (author)
- Department of Molecular Neurobiology, Donders Institute for Brain, Cognition and Behaviour and Faculty of Science, Radboud University, Nijmegen, Netherlands
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- Müller, Kathrin (author)
- German Center for Neurodegenerative Diseases (DZNE) Ulm, Ulm, Germany; Institute of Human Genetics, Ulm University, Ulm, Germany
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- Sieverding, Kirsten (author)
- German Center for Neurodegenerative Diseases (DZNE) Ulm, Ulm, Germany
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- Weishaupt, Jochen (author)
- Division for Neurodegenerative Diseases, Neurology Department, University Medicine Mannheim, Heidelberg University, Mannheim, Germany
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- Andersen, Peter M., 1962- (author)
- Umeå universitet,Neurovetenskaper
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- Weber, Markus (author)
- Neuromuscular Disease Unit/ALS Clinic, Kantonsspital St. Gallen, St. Gallen, Switzerland
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- Neuwirth, Christoph (author)
- Neuromuscular Disease Unit/ALS Clinic, Kantonsspital St. Gallen, St. Gallen, Switzerland
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- Margelisch, Markus (author)
- Institute for Pathology, Kanstonsspital St. Gallen, St. Gallen, Switzerland
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- Sommacal, Andreas (author)
- Institute for Pathology, Kanstonsspital St. Gallen, St. Gallen, Switzerland
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- Van Eijk, Kristel R. (author)
- Department of Neurology, University Medical Center Utrecht Brain Center, Utrecht University, Utrecht, Netherlands
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- Veldink, Jan H. (author)
- Department of Neurology, University Medical Center Utrecht Brain Center, Utrecht University, Utrecht, Netherlands
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- Lautrette, Géraldine (author)
- Service de Neurologie, Centre de Référence SLA et autres maladies du neurone moteur, CHU Dupuytren 1, Limoges, France
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- Couratier, Philippe (author)
- Service de Neurologie, Centre de Référence SLA et autres maladies du neurone moteur, CHU Dupuytren 1, Limoges, France
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- Camuzat, Agnès (author)
- Sorbonne Université, Institut du Cerveau ‐ Paris Brain Institute ‐ ICM, Inserm, CNRS, APHP, Hôpital de la Pitié Salpêtrière, Paris, France
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- Le Ber, Isabelle (author)
- Sorbonne Université, Institut du Cerveau ‐ Paris Brain Institute ‐ ICM, Inserm, CNRS, APHP, Hôpital de la Pitié Salpêtrière, Paris, France
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- Grassano, Maurizio (author)
- ALS Center “Rita Levi Montalcini” Department of Neuroscience, University of Turin, Turin, Italy
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- Chio, Adriano (author)
- ALS Center “Rita Levi Montalcini” Department of Neuroscience, University of Turin, Turin, Italy
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- Boeckers, Tobias (author)
- Institute of Anatomy and Cell Biology, Ulm University, Ulm, Germany; German Center for Neurodegenerative Diseases (DZNE) Ulm, Ulm, Germany
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- Ludolph, Albert C. (author)
- German Center for Neurodegenerative Diseases (DZNE) Ulm, Ulm, Germany; Department of Neurology, Ulm University, Ulm, Germany
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- Roselli, Francesco (author)
- German Center for Neurodegenerative Diseases (DZNE) Ulm, Ulm, Germany; Department of Neurology, Ulm University, Ulm, Germany
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- Yilmazer-Hanke, Deniz (author)
- Clinical Neuroanatomy, Department of Neurology, Ulm University, Ulm, Germany
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- Millecamps, Stéphanie (author)
- Sorbonne Université, Institut du Cerveau ‐ Paris Brain Institute ‐ ICM, Inserm, CNRS, APHP, Hôpital de la Pitié Salpêtrière, Paris, France
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- Kabashi, Edor (author)
- Laboratory of Translational Research for Neurological Disorders, Imagine Institute, Université de Paris, INSERM UMR 1163, Paris, France
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- Storkebaum, Erik (author)
- Department of Molecular Neurobiology, Donders Institute for Brain, Cognition and Behaviour and Faculty of Science, Radboud University, Nijmegen, Netherlands
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- Sellier, Chantal (author)
- Université de Strasbourg, Inserm, Mécanismes centraux et périphériques de la neurodégénérescence, UMR-S1118, Centre de Recherches en Biomédecine, Strasbourg, France
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- Dupuis, Luc (author)
- Université de Strasbourg, Inserm, Mécanismes centraux et périphériques de la neurodégénérescence, UMR-S1118, Centre de Recherches en Biomédecine, Strasbourg, France
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(creator_code:org_t)
- 2023-01-20
- 2023
- English.
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In: Nature Communications. - : Nature Publishing Group. - 2041-1723. ; 14:1
- Related links:
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https://doi.org/10.1...
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https://umu.diva-por... (primary) (Raw object)
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https://urn.kb.se/re...
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https://doi.org/10.1...
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Abstract
Subject headings
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- Amyotrophic lateral sclerosis (ALS) has substantial heritability, in part shared with fronto-temporal dementia (FTD). We show that ALS heritability is enriched in splicing variants and in binding sites of 6 RNA-binding proteins including TDP-43 and FUS. A transcriptome wide association study (TWAS) identified 6 loci associated with ALS, including in NUP50 encoding for the nucleopore basket protein NUP50. Independently, rare variants in NUP50 were associated with ALS risk (P = 3.71.10−03; odds ratio = 3.29; 95%CI, 1.37 to 7.87) in a cohort of 9,390 ALS/FTD patients and 4,594 controls. Cells from one patient carrying a NUP50 frameshift mutation displayed a decreased level of NUP50. Loss of NUP50 leads to death of cultured neurons, and motor defects in Drosophila and zebrafish. Thus, our study identifies alterations in splicing in neurons as critical in ALS and provides genetic evidence linking nuclear pore defects to ALS.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Neurologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Neurology (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Neurovetenskaper (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Neurosciences (hsv//eng)
Publication and Content Type
- ref (subject category)
- art (subject category)
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To the university's database
- By the author/editor
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Megat, Salim
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Mora, Natalia
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Sanogo, Jason
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Roman, Olga
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Catanese, Albert ...
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Alami, Najwa Oua ...
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show more...
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Freischmidt, Axe ...
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Mingaj, Xhuljana
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De Calbiac, Hort ...
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Muratet, Françoi ...
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Dirrig-Grosch, S ...
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Dieterle, Stépha ...
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Van Bakel, Nick
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Müller, Kathrin
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Sieverding, Kirs ...
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Weishaupt, Joche ...
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Andersen, Peter ...
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Weber, Markus
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Neuwirth, Christ ...
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Margelisch, Mark ...
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Sommacal, Andrea ...
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Van Eijk, Kriste ...
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Veldink, Jan H.
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Lautrette, Géral ...
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Couratier, Phili ...
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Camuzat, Agnès
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Le Ber, Isabelle
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Grassano, Mauriz ...
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Chio, Adriano
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Boeckers, Tobias
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Ludolph, Albert ...
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Roselli, Frances ...
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Yilmazer-Hanke, ...
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Millecamps, Stép ...
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Kabashi, Edor
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Storkebaum, Erik
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Sellier, Chantal
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Dupuis, Luc
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Neurology
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Neurosciences
- Articles in the publication
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Nature Communica ...
- By the university
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Umeå University