Genetic, transcriptomic, histological, and biochemical analysis of progressive supranuclear palsy implicates glial activation and novel risk genes.
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| Title: | Genetic, transcriptomic, histological, and biochemical analysis of progressive supranuclear palsy implicates glial activation and novel risk genes. |
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| Authors: | Farrell K; Department of Pathology, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Artificial Intelligence & Human Health, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Nash Family Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Ronald M. Loeb Center for Alzheimer's Disease, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Neuropathology Brain Bank & Research CoRE, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Humphrey J; Nash Family Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Ronald M. Loeb Center for Alzheimer's Disease, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Genetics & Genomic Science, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Chang T; Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, CA, USA., Zhao Y; Penn Neurodegeneration Genomics Center, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Leung YY; Penn Neurodegeneration Genomics Center, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Institute for Biomedical Informatics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Kuksa PP; Penn Neurodegeneration Genomics Center, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Institute for Biomedical Informatics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Patil V; Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, CA, USA., Lee WP; Penn Neurodegeneration Genomics Center, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Institute for Biomedical Informatics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Kuzma AB; Penn Neurodegeneration Genomics Center, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Valladares O; Penn Neurodegeneration Genomics Center, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Cantwell LB; Penn Neurodegeneration Genomics Center, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Wang H; Penn Neurodegeneration Genomics Center, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Institute for Biomedical Informatics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Ravi A; Nash Family Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Ronald M. Loeb Center for Alzheimer's Disease, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Genetics & Genomic Science, Icahn School of Medicine at Mount Sinai, New York, NY, USA., De Sanctis C; Department of Pathology, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Artificial Intelligence & Human Health, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Nash Family Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Ronald M. Loeb Center for Alzheimer's Disease, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Neuropathology Brain Bank & Research CoRE, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Han N; Department of Pathology, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Artificial Intelligence & Human Health, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Nash Family Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Ronald M. Loeb Center for Alzheimer's Disease, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Neuropathology Brain Bank & Research CoRE, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Christie TD; Department of Pathology, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Artificial Intelligence & Human Health, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Nash Family Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Ronald M. Loeb Center for Alzheimer's Disease, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Neuropathology Brain Bank & Research CoRE, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Afzal R; Department of Pathology, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Artificial Intelligence & Human Health, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Nash Family Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Ronald M. Loeb Center for Alzheimer's Disease, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Neuropathology Brain Bank & Research CoRE, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Kandoi S; Department of Pathology, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Artificial Intelligence & Human Health, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Nash Family Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Ronald M. Loeb Center for Alzheimer's Disease, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Neuropathology Brain Bank & Research CoRE, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Whitney K; Department of Pathology, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Artificial Intelligence & Human Health, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Nash Family Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Ronald M. Loeb Center for Alzheimer's Disease, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Neuropathology Brain Bank & Research CoRE, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Krassner MM; Department of Pathology, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Artificial Intelligence & Human Health, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Nash Family Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Ronald M. Loeb Center for Alzheimer's Disease, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Neuropathology Brain Bank & Research CoRE, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Ressler H; Department of Pathology, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Artificial Intelligence & Human Health, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Nash Family Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Ronald M. Loeb Center for Alzheimer's Disease, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Neuropathology Brain Bank & Research CoRE, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Kim S; Department of Pathology, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Artificial Intelligence & Human Health, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Nash Family Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Ronald M. Loeb Center for Alzheimer's Disease, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Neuropathology Brain Bank & Research CoRE, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Dangoor D; Department of Pathology, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Artificial Intelligence & Human Health, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Nash Family Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Ronald M. Loeb Center for Alzheimer's Disease, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Neuropathology Brain Bank & Research CoRE, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Iida MA; Department of Pathology, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Artificial Intelligence & Human Health, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Nash Family Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Ronald M. Loeb Center for Alzheimer's Disease, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Neuropathology Brain Bank & Research CoRE, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Casella A; Department of Pathology, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Artificial Intelligence & Human Health, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Nash Family Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Ronald M. Loeb Center for Alzheimer's Disease, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Neuropathology Brain Bank & Research CoRE, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Walker RH; Department of Neurology, James J. Peters Veterans Affairs Medical Center, Bronx, NY, USA.; Department of Neurology, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Nirenberg MJ; Department of Neurology, James J. Peters Veterans Affairs Medical Center, Bronx, NY, USA.; Department of Neurology, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Renton AE; Nash Family Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Ronald M. Loeb Center for Alzheimer's Disease, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Genetics & Genomic Science, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Babrowicz B; Department of Pathology, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Artificial Intelligence & Human Health, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Nash Family Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Ronald M. Loeb Center for Alzheimer's Disease, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Neuropathology Brain Bank & Research CoRE, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Coppola G; Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, CA, USA., Raj T; Nash Family Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Ronald M. Loeb Center for Alzheimer's Disease, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Genetics & Genomic Science, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Höglinger GU; Department of Neurology, Ludwig-Maximilians-Universität Hospital, Munich, Germany.; Munich Cluster for Systems Neurology (SyNergy), Munich, Germany.; German Center for Neurodegenerative Diseases (DZNE), Munich, Germany., Müller U; Institute of Human Genetics, Justus-Liebig University Giessen, 35392, Giessen, Germany., Golbe LI; Department of Neurology, Rutgers Robert Wood Johnson Medical School, New Brunswick, NJ, USA.; CurePSP, Inc., New York, NY, USA., Morris HR; Department of Clinical and Movement Neurosciences, University College London, London, UK.; Queen Square Institute of Neurology, University College London, London, UK., Hardy J; Queen Square Institute of Neurology, University College London, London, UK.; Dementia Research Institute, University College London, London, UK., Revesz T; Queen Square Institute of Neurology, University College London, London, UK.; Queen Square Brain Bank for Neurological Disorders, University College London, London, UK., Warner TT; Department of Clinical and Movement Neurosciences, University College London, London, UK.; Queen Square Institute of Neurology, University College London, London, UK.; Queen Square Brain Bank for Neurological Disorders, University College London, London, UK., Jaunmuktane Z; Department of Clinical and Movement Neurosciences, University College London, London, UK.; Queen Square Institute of Neurology, University College London, London, UK.; Queen Square Brain Bank for Neurological Disorders, University College London, London, UK., Mok KY; Queen Square Institute of Neurology, University College London, London, UK.; Dementia Research Institute, University College London, London, UK., Rademakers R; VIB Center for Molecular Neurology, University of Antwerp, Antwerp, Belgium.; Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.; Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA., Dickson DW; Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA., Ross OA; Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA., Wang LS; Penn Neurodegeneration Genomics Center, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Department of Biostatistics, Epidemiology, and Informatics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Goate A; Nash Family Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Ronald M. Loeb Center for Alzheimer's Disease, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Genetics & Genomic Science, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Schellenberg G; Penn Neurodegeneration Genomics Center, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Geschwind DH; Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.; Program in Neurogenetics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.; Center for Autism Research and Treatment Semel Institute for Neuroscience and Human Behavior, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.; Institute for Precision Health, University of California, Los Angeles, CA, USA., Crary JF; Department of Pathology, Icahn School of Medicine at Mount Sinai, New York, NY, USA. John.crary@mountsinai.org.; Department of Artificial Intelligence & Human Health, Icahn School of Medicine at Mount Sinai, New York, NY, USA. John.crary@mountsinai.org.; Nash Family Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY, USA. John.crary@mountsinai.org.; Ronald M. Loeb Center for Alzheimer's Disease, Icahn School of Medicine at Mount Sinai, New York, NY, USA. John.crary@mountsinai.org.; Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA. John.crary@mountsinai.org.; Neuropathology Brain Bank & Research CoRE, Icahn School of Medicine at Mount Sinai, New York, NY, USA. John.crary@mountsinai.org., Naj A; Penn Neurodegeneration Genomics Center, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. Adamnaj@pennmedicine.upenn.edu.; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. Adamnaj@pennmedicine.upenn.edu.; Department of Biostatistics, Epidemiology, and Informatics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. Adamnaj@pennmedicine.upenn.edu. |
| Corporate Authors: | PSP Genetics Study Group |
| Source: | Nature communications [Nat Commun] 2024 Sep 09; Vol. 15 (1), pp. 7880. Date of Electronic Publication: 2024 Sep 09. |
| Publication Type: | Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 2041-1723 |
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| DOI: | 10.1038/s41467-024-52025-x |
