Domain mapping of disease mutations reveals pathogenic SORL1 variants in Alzheimer’s disease
Year: 2025
Type: article
Language: en
Topic: Genomics and Rare Diseases
Authors and affiliations:
raw_author_name: Olav M. Andersen
raw_affiliation_strings: Department of Biomedicine, Aarhus University, Aarhus, Denmark. o.andersen@biomed.au.dk
Department of Biomedicine, Aarhus University, Aarhus, Denmark
raw_author_name: Matthijs W. J. de Waal
raw_affiliation_strings: Amsterdam Neuroscience, Neurodegeneration, Amsterdam, The Netherlands
Department of Human Genetics, Amsterdam UMC, Location Vrije Universiteit Amsterdam, Amsterdam, The Netherlands
raw_author_name: Giulia Monti
raw_affiliation_strings: Department of Biomedicine, Aarhus University, Aarhus, Denmark
raw_author_name: Niccolo Tesi
raw_affiliation_strings: Alzheimer Center Amsterdam, Neurology, Amsterdam UMC, Location Vrije Universiteit Amsterdam, Amsterdam, The Netherlands
Amsterdam Neuroscience, Neurodegeneration, Amsterdam, The Netherlands
Delft Bioinformatics Lab, Delft University of Technology, Delft, The Netherlands
Department of Human Genetics, Amsterdam UMC, Location Vrije Universiteit Amsterdam, Amsterdam, The Netherlands
raw_author_name: Anne Mette G. Jensen
raw_affiliation_strings: Department of Biomedicine, Aarhus University, Aarhus, Denmark
raw_author_name: Christa de Geus
raw_affiliation_strings: Clinical Genetics, Human Genetics, Amsterdam UMC, Amsterdam, The Netherlands
raw_author_name: Rosalina van Spaendonk
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raw_author_name: Maartje Vogel
raw_affiliation_strings: Genome Analysis Laboratory, Human Genetics, Amsterdam UMC, Location Vrije Universiteit Amsterdam, Amsterdam, The Netherlands
raw_author_name: Shahzad Ahmad
raw_affiliation_strings: Department of Epidemiology, Erasmus Medical Centre, Rotterdam, The Netherlands
LACDR, Leiden, The Netherlands
raw_author_name: Najaf Amin
raw_affiliation_strings: Department of Epidemiology, Erasmus Medical Centre, Rotterdam, The Netherlands
Nuffield Department of Population Health Oxford University, Oxford, UK
raw_author_name: Philippe Amouyel
raw_affiliation_strings: Univ. Lille, Inserm, CHU Lille, Institut Pasteur Lille, LabEx DISTALZ-U1167-RID-AGE - Facteurs de risque et déterminants moléculaires des maladies liées au vieillissement, Lille, France
raw_author_name: Gary W. Beecham
raw_affiliation_strings: The John P. Hussman Institute for Human Genomics, University of Miami, Miami, FL, USA
raw_author_name: Céline Bellenguez
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raw_author_name: Claudine Berr
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raw_author_name: Joshua C. Bis
raw_affiliation_strings: Cardiovascular Health Research Unit, Department of Medicine, University of Washington, Seattle, WA, USA
raw_author_name: Anne Boland
raw_affiliation_strings: Université Paris-Saclay, CEA, Centre National de Recherche En Génomique Humaine, Evry, France
raw_author_name: Paola Bossù
raw_affiliation_strings: Experimental Neuro-Psychobiology Laboratory, Department of Clinical and Behavioral Neurology, IRCCS Santa Lucia Foundation, Rome, Italy
raw_author_name: Femke Bouwman
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Amsterdam Neuroscience, Neurodegeneration, Amsterdam, The Netherlands
raw_author_name: Jose Bras
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Division of Psychiatry and Behavioral Medicine, Michigan State University College of Human Medicine, Grand Rapids, MI, USA
raw_author_name: Camille Charbonnier
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raw_author_name: Jordi Clarimon
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Memory Unit, Neurology Department and Institut de Recerca Sant Pau, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Sant Quintí 77-79, Barcelona, 08041, Spain
raw_author_name: Carlos Cruchaga
raw_affiliation_strings: Hope Center for Neurological Disorders, Washington University School of Medicine, St Louis, MO, USA
Neurogenomics and Informatics Center, Washington University School of Medicine, St Louis, MO, USA
Psychiatry Department, Washington University School of Medicine, St Louis, MO, USA
raw_author_name: Antonio Daniele
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raw_author_name: Jean-François Dartigues
raw_affiliation_strings: University Bordeaux, Inserm, Bordeaux Population Health Research Center, Bordeaux, France
raw_author_name: Stéphanie Debette
raw_affiliation_strings: Department of Neurology, Bordeaux University Hospital, Bordeaux, France
University Bordeaux, Inserm, Bordeaux Population Health Research Center, Bordeaux, France
raw_author_name: Jean-François Deleuze
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raw_author_name: Nicola Denning
raw_affiliation_strings: UKDRI at Cardiff, School of Medicine, Cardiff University, Cardiff, UK
raw_author_name: Anita L. DeStefano
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Department of Neurology, Boston University School of Medicine, Boston, MA, USA
Framingham Heart Study, Framingham, MA, USA
raw_author_name: Oriol Dols-Icardo
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Memory Unit, Neurology Department and Institut de Recerca Sant Pau, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Sant Quintí 77-79, Barcelona, 08041, Spain
raw_author_name: Cornelia M. van Duijn
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Nuffield Department of Population Health Oxford University, Oxford, UK
raw_author_name: Lindsay A. Farrer
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Department of Epidemiology, Boston University, Boston, MA, USA
Department of Medicine (Biomedical Genetics), Boston University, Boston, MA, USA
Department of Neurology, Boston University School of Medicine, Boston, MA, USA
Framingham Heart Study, Framingham, MA, USA
raw_author_name: Maria Victoria Fernández
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Neurogenomics and Informatics Center, Washington University School of Medicine, St Louis, MO, USA
Psychiatry Department, Washington University School of Medicine, St Louis, MO, USA
raw_author_name: Wiesje M. van der Flier
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Amsterdam Neuroscience, Neurodegeneration, Amsterdam, The Netherlands
raw_author_name: Nick C. Fox
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UK Dementia Research Institute at UCL, London, UK
raw_author_name: Daniela Galimberti
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University of Milan, Milan, Italy
raw_author_name: Emmanuelle Genin
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raw_author_name: Johan J. P. Gille
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raw_author_name: Benjamin Grenier-Boley
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raw_author_name: Detelina Grozeva
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raw_author_name: Yann Le Guen
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raw_author_name: Rita Guerreiro
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Division of Psychiatry and Behavioral Medicine, Michigan State University College of Human Medicine, Grand Rapids, MI, USA
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raw_author_name: Clive Holmes
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raw_author_name: Holger Hummerich
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raw_author_name: M. Arfan Ikram
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raw_author_name: M. Kamran Ikram
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raw_author_name: Amit Kawalia
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raw_author_name: Jean-Charles Lambert
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raw_author_name: Marc Lathrop
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raw_author_name: Afina W. Lemstra
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Amsterdam Neuroscience, Neurodegeneration, Amsterdam, The Netherlands
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Memory Unit, Neurology Department and Institut de Recerca Sant Pau, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Sant Quintí 77-79, Barcelona, 08041, Spain
raw_author_name: Richard M. Myers
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raw_author_name: Marcel M. A. M. Mannens
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raw_author_name: Eden R. Martin
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The John P. Hussman Institute for Human Genomics, University of Miami, Miami, FL, USA
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raw_author_name: Richard Mayeux
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Taub Institute on Alzheimer's Disease and the Aging Brain, Department of Neurology, Columbia University, New York, NY, USA
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raw_author_name: Patrizia Mecocci
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Division of Gerontology and Geriatrics, Department of Medicine and Surgery, University of Perugia, Perugia, Italy
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raw_author_name: Merel O. Mol
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raw_author_name: Benedetta Nacmias
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IRCCS Fondazione Don Carlo Gnocchi, Florence, Italy
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raw_author_name: Florence Pasquier
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Unit of Neurodegenerative Diseases, Department of Neurology, University Hospital Germans Trias i Pujol, Badalona, Barcelona, Spain
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Amsterdam Neuroscience, Neurodegeneration, Amsterdam, The Netherlands
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Department of Psychiatry and Glenn Biggs Institute for Alzheimer's and Neurodegenerative Diseases, San Antonio, TX, USA
Division of Neurogenetics and Molecular Psychiatry, Department of Psychiatry and Psychotherapy, Faculty of Medicine and University Hospital Cologne, Cologne, Germany
German Center for Neurodegenerative Diseases (DZNE, Bonn), Bonn, Germany
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Amsterdam Neuroscience, Neurodegeneration, Amsterdam, The Netherlands
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Framingham Heart Study, Framingham, MA, USA
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IRCCS Fondazione Don Carlo Gnocchi, Florence, Italy
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Amsterdam Neuroscience, Neurodegeneration, Amsterdam, The Netherlands
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