Article
Whole-genome sequencing analysis reveals new susceptibility loci and structural variants associated with progressive supranuclear palsy.
Molecular neurodegeneration - 16 Aug 2024
Wang Hui, Chang Timothy S, Dombroski Beth A, Cheng Po-Liang, Patil Vishakha, Valiente-Banuet Leopoldo, Farrell Kurt, Mclean Catriona, Molina-Porcel Laura, Rajput Alex, De Deyn Peter Paul, Le Bastard Nathalie, Gearing Marla, Kaat Laura Donker, Van Swieten John C, Dopper Elise, Ghetti Bernardino F, Newell Kathy L, Troakes Claire, de Yébenes Justo G, Rábano-Gutierrez Alberto, Meller Tina, Oertel Wolfgang H, Respondek Gesine, Stamelou Maria, Arzberger Thomas, Roeber Sigrun, Müller Ulrich, Hopfner Franziska, Pastor Pau, Brice Alexis, Durr Alexandra, Le Ber Isabelle, Beach Thomas G, Serrano Geidy E, Hazrati Lili-Naz, Litvan Irene, Rademakers Rosa, Ross Owen A, Galasko Douglas, Boxer Adam L, Miller Bruce L, Seeley Willian W, Van Deerlin Vivanna M, Lee Edward B, White Charles L, Morris Huw, de Silva Rohan, Crary John F, Goate Alison M, Friedman Jeffrey S, Leung Yuk Yee, Coppola Giovanni, Naj Adam C, Wang Li-San, Dalgard Clifton, Dickson Dennis W, Höglinger Günter U, Schellenberg Gerard D, Geschwind Daniel H, Lee Wan-Ping
Abstract excerpt
BACKGROUND: Progressive supranuclear palsy (PSP) is a rare neurodegenerative disease characterized by the accumulation of aggregated tau proteins in astrocytes, neurons, and oligodendrocytes. Previous genome-wide association studies for PSP were based on genotype array, therefore, were inadequate for the analysis of rare variants as well as larger mutations, such as small insertions/deletions (indels) and...
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