Article
Plasma lysosphingolipids in GRN-related diseases: Monitoring lysosomal dysfunction to track disease progression.
Neurobiology of disease - 1 Jun 2023
Khrouf Walid, Saracino Dario, Rucheton Benoit, Houot Marion, Clot Fabienne, Rinaldi Daisy, Vitor Joana, Huynh Marie, Heng Evelyne, Schlemmer Dimitri, Pasquier Florence, Deramecourt Vincent, Auriacombe Sophie, Azuar Carole, Levy Richard, Bombois Stéphanie, Boutoleau-Brétonnière Claire, Pariente Jérémie, Didic Mira, Wallon David, Fluchère Frédérique, Auvin Stéphane, Younes Imen Ben, Nadjar Yann, Brice Alexis, Dubois Bruno, Bonnefont-Rousselot Dominique, Le Ber Isabelle, Lamari Foudil
Abstract excerpt
GRN mutations are among the main genetic causes of frontotemporal dementia (FTD). Considering the progranulin involvement in lysosomal homeostasis, we aimed to evaluate if plasma lysosphingolipids (lysoSPL) are increased in GRN mutation carriers, and whether they might represent relevant fluid-based biomarkers in GRN-related diseases. We analyzed four lysoSPL levels in plasmas of 131 GRN carriers and 142...
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