Whole-genome sequencing analysis reveals new susceptibility loci and structural variants associated with progressive supranuclear palsy
Through WGS, we significantly enhanced our understanding of the genetic basis of PSP, providing new targets for exploring disease mechanisms and therapeutic interventions.
Authors
- Wan‐Ping Lee (ORCID: https://orcid.org/0000-0002-5305-1181)
- Jeffrey S. Friedman
- Laura Molina‐Porcel (ORCID: https://orcid.org/0000-0003-4068-8578)
- Tina Meller (ORCID: https://orcid.org/0000-0002-0239-6585)
- John Cornelis Van Swieten (ORCID: https://orcid.org/0000-0001-6278-6844)
- Irene Litvan (ORCID: https://orcid.org/0000-0002-3485-3445)
- Elise G.P. Dopper
- Clifton L. Dalgard (ORCID: https://orcid.org/0000-0003-2025-8239)
- Vivanna M. Van Deerlin
- Dennis W. Dickson (ORCID: https://orcid.org/0000-0001-7189-7917)
- Timothy S. Chang (ORCID: https://orcid.org/0000-0002-9225-9874)
- Daniel H. Geschwind (ORCID: https://orcid.org/0000-0003-2896-3450)
- Franziska Hopfner (ORCID: https://orcid.org/0000-0001-6524-0281)
- Adam L. Boxer (ORCID: https://orcid.org/0000-0002-1215-5064)
- Justo Garcı́a de Yébenes (ORCID: https://orcid.org/0000-0002-5518-3401)
- Charles L. White (ORCID: https://orcid.org/0000-0002-3870-2804)
- Laura Donker Kaat (ORCID: https://orcid.org/0009-0007-2436-0931)
- Peter Paul De Deyn (ORCID: https://orcid.org/0000-0002-2228-2964)
- Kurt Farrell (ORCID: https://orcid.org/0000-0001-6955-7278)
- Alexandra Dürr (ORCID: https://orcid.org/0000-0002-8921-7104)
- Pau Pástor (ORCID: https://orcid.org/0000-0002-7493-8777)
- Alexis Brice (ORCID: https://orcid.org/0000-0002-0941-3990)
- Vishakha Patil
- Claire Troakes (ORCID: https://orcid.org/0000-0002-1790-7376)
- Yuk Yee Leung (ORCID: https://orcid.org/0000-0002-3047-5440)
- Thomas Arzberger (ORCID: https://orcid.org/0000-0002-6222-171X)
- Gesine Respondek (ORCID: https://orcid.org/0000-0002-6851-6164)
- Isabelle Le Ber (ORCID: https://orcid.org/0000-0002-2508-5181)
- Bruce L. Miller (ORCID: https://orcid.org/0000-0002-2152-4220)
- Bernardino Ghetti (ORCID: https://orcid.org/0000-0002-1842-8019)
- Geidy E. Serrano (ORCID: https://orcid.org/0000-0002-9527-2011)
- Beth A. Dombroski (ORCID: https://orcid.org/0000-0002-5334-1306)
- Nathalie Le Bastard (ORCID: https://orcid.org/0000-0002-7981-2866)
- Catriona McLean (ORCID: https://orcid.org/0000-0002-0302-5727)
- Adam C. Naj (ORCID: https://orcid.org/0000-0002-9621-2942)
- Po‐Liang Cheng (ORCID: https://orcid.org/0009-0007-0046-0313)
- Sigrun Roeber
- Wolfgang H. Oertel (ORCID: https://orcid.org/0000-0002-7582-8166)
- Edward B. Lee (ORCID: https://orcid.org/0000-0002-4589-1180)
- María Stamelou (ORCID: https://orcid.org/0000-0003-1668-9925)
- Giovanni Coppola (ORCID: https://orcid.org/0000-0003-2105-1061)
- Marla Gearing (ORCID: https://orcid.org/0000-0002-1959-7412)
- Kathy L. Newell (ORCID: https://orcid.org/0000-0002-1648-7357)
- John F. Crary (ORCID: https://orcid.org/0000-0002-0556-293X)
- Günter U. Höglinger (ORCID: https://orcid.org/0000-0001-7587-6187)
- Douglas R Galasko (ORCID: https://orcid.org/0000-0001-6195-3241)
- Thomas G. Beach (ORCID: https://orcid.org/0000-0003-3296-6128)
- Owen A. Ross (ORCID: https://orcid.org/0000-0003-4813-756X)
- Huw R. Morris (ORCID: https://orcid.org/0000-0002-5473-3774)
- Leopoldo Valiente‐Banuet
- Lili‐Naz Hazrati (ORCID: https://orcid.org/0000-0003-2715-1485)
- Alison Goate (ORCID: https://orcid.org/0000-0002-0576-2472)
- Gerard D. Schellenberg (ORCID: https://orcid.org/0000-0003-1115-2475)
- Hui Wang (ORCID: https://orcid.org/0000-0002-1923-489X)
- Ulrich Müller (ORCID: https://orcid.org/0000-0003-2412-9071)
- Rohan de Silva (ORCID: https://orcid.org/0000-0002-5052-5775)
- Li-San Wang
- Rosa Rademakers
- Willian W. Seeley
- Alberto Rábano‐Gutierrez
- Alex Rajput
Institutions
- Centre National de la Recherche Scientifique (FR)
- Allen Institute for Brain Science (US)
- University Medical Center Groningen (NL)
- Uniformed Services University of the Health Sciences (US)
- University of Antwerp (BE)
- Emory University (US)
- Inserm (FR)
- Philipps University of Marburg (DE)
- University of California, Los Angeles (US)
- University of California, San Francisco (US)
- King's College London (GB)
- European University Cyprus (CY)
- Florey Institute of Neuroscience and Mental Health (AU)
- UCLA Health (US)
- German Center for Neurodegenerative Diseases (DE)
- Jacksonville College (US)
- University of Saskatchewan (CA)
- University of Cyprus (CY)
- University of California San Diego (US)
- Sorbonne Université (FR)
- Assistance Publique – Hôpitaux de Paris (FR)
- University Memory and Aging Center (US)
- Institute for Neurodegenerative Disorders (US)
- Munich Cluster for Systems Neurology (DE)
- Hygeia Hospital (GR)
- Penn Center for AIDS Research (US)
- VIB-UAntwerp Center for Molecular Neurology (BE)
- Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol (ES)
- Banner Sun Health Research Institute (US)
- Mayo Clinic in Florida (US)
- National Hospital for Neurology and Neurosurgery (GB)
- Banc de Sang i Teixits (ES)
- Institut du Cerveau (FR)
- Hospital Universitari Germans Trias i Pujol (ES)
- Fundacion Centro De Investigacion De Enfermedades Neurologicas (ES)
- Fundació Clínic per a la Recerca Biomèdica (ES)
- Consorci Institut D'Investigacions Biomediques August Pi I Sunyer (ES)
- Hersenstichting (NL)
- Indiana University School of Medicine
- University College London (GB)
- McGill University (CA)
- Indiana University – Purdue University Indianapolis (US)
- Fujirebio (Belgium) (BE)
- Universidad Autónoma de Madrid (ES)
- Universitat de Barcelona (ES)
- University of Pennsylvania (US)
- Ludwig-Maximilians-Universität München (DE)
- The University of Texas Southwestern Medical Center (US)
- Erasmus University Rotterdam (NL)
- Icahn School of Medicine at Mount Sinai (US)
Publication Details
- Journal
- Molecular Neurodegeneration
- Published
- 2024-08-16
- DOI
- https://doi.org/10.1186/s13024-024-00747-3
- Citations
- 25
- Primary Topic
- Neurological diseases and metabolism
- Type
- article
- Field-Weighted Citation Impact
- 6.19
Funders
- Mayo Clinic
- Larry L. Hillblom Foundation
- University of Pennsylvania
- Arizona Department of Health Services
- CurePSP
- Rainwater Charitable Foundation
- Deutsches Zentrum für Neurodegenerative Erkrankungen
- Arizona Biomedical Research Commission
- National Institutes of Health
- Medical Research Council
- National Institute on Aging
- National Institute of Neurological Disorders and Stroke
- Reta Lila Weston Institute of Neurological Studies, UCL Queen Square Institute of Neurology,University College London