Article
A systematic review of progranulin concentrations in biofluids in over 7,000 people-assessing the pathogenicity of GRN mutations and other influencing factors.
Alzheimer's research & therapy - 28 Mar 2024
Swift Imogen J, Rademakers Rosa, Finch NiCole, Baker Matt, Ghidoni Roberta, Benussi Luisa, Binetti Giuliano, Rossi Giacomina, Synofzik Matthis, Wilke Carlo, Mengel David, Graff Caroline, Takada Leonel T, Sánchez-Valle Raquel, Antonell Anna, Galimberti Daniela, Fenoglio Chiara, Serpente Maria, Arcaro Marina, Schreiber Stefanie, Vielhaber Stefan, Arndt Philipp, Santana Isabel, Almeida Maria Rosario, Moreno Fermín, Barandiaran Myriam, Gabilondo Alazne, Stubert Johannes, Gómez-Tortosa Estrella, Agüero Pablo, Sainz M José, Gohda Tomohito, Murakoshi Maki, Kamei Nozomu, Kittel-Schneider Sarah, Reif Andreas, Weigl Johannes, Jian Jinlong, Liu Chuanju, Serrero Ginette, Greither Thomas, Theil Gerit, Lohmann Ebba, Gazzina Stefano, Bagnoli Silvia, Coppola Giovanni, Bruni Amalia, Quante Mirja, Kiess Wieland, Hiemisch Andreas, Jurkutat Anne, Block Matthew S, Carlson Aaron M, Bråthen Geir, Sando Sigrid Botne, Grøntvedt Gøril Rolfseng, Lauridsen Camilla, Heslegrave Amanda, Heller Carolin, Abel Emily, Gómez-Núñez Alba, Puey Roger, Arighi Andrea, Rotondo Enmanuela, Jiskoot Lize C, Meeter Lieke H H, Durães João, Lima Marisa, Tábuas-Pereira Miguel, Lemos João, Boeve Bradley, Petersen Ronald C, Dickson Dennis W, Graff-Radford Neill R, LeBer Isabelle, Sellami Leila, Lamari Foudil, Clot Fabienne, Borroni Barbara, Cantoni Valentina, Rivolta Jasmine, Lleó Alberto, Fortea Juan, Alcolea Daniel, Illán-Gala Ignacio, Andres-Cerezo Lucie, Van Damme Philip, Clarimon Jordi, Steinacker Petra, Feneberg Emily, Otto Markus, van der Ende Emma L, van Swieten John C, Seelaar Harro, Zetterberg Henrik, Sogorb-Esteve Aitana, Rohrer Jonathan D
Abstract excerpt
BACKGROUND: Pathogenic heterozygous mutations in the progranulin gene (GRN) are a key cause of frontotemporal dementia (FTD), leading to significantly reduced biofluid concentrations of the progranulin protein (PGRN). This has led to a number of ongoing therapeutic trials aiming to treat this form of FTD by increasing PGRN levels in mutation carriers. However, we currently lack a complete understanding of factors...