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Plasma lysosphingolipids in GRN-related diseases: Monitoring lysosomal dysfunction to track disease progression.
Khrouf W, Saracino D, Rucheton B, Houot M, Clot F, Rinaldi D, Vitor J, Huynh M, Heng E, Schlemmer D, Pasquier F, Deramecourt V, Auriacombe S, Azuar C, Levy R, Bombois S, Boutoleau-Brétonnière C, Pariente J, Didic M, Wallon D, Fluchère F, Auvin S, Younes IB; French clinical and genetic research network on FTD/FTD-ALS; Predict-PGRN study group; Nadjar Y, Brice A, Dubois B, Bonnefont-Rousselot D, Le Ber I, Lamari F. Khrouf W, et al. Neurobiol Dis. 2023 Jun 1;181:106108. doi: 10.1016/j.nbd.2023.106108. Epub 2023 Mar 30. Neurobiol Dis. 2023. PMID: 37003407 Free article.
GRN carriers consisted of 102 heterozygous FTD patients (FTD-GRN), three homozygous patients with neuronal ceroid lipofuscinosis-11 (CLN-11) and 26 presymptomatic carriers (PS-GRN), the latter with longitudinal assessments. ...
GRN carriers consisted of 102 heterozygous FTD patients (FTD-GRN), three homozygous patients with neuronal ceroid lipofusci …
Homozygous GRN mutations: new phenotypes and new insights into pathological and molecular mechanisms.
Huin V, Barbier M, Bottani A, Lobrinus JA, Clot F, Lamari F, Chat L, Rucheton B, Fluchère F, Auvin S, Myers P, Gelot A, Camuzat A, Caillaud C, Jornéa L, Forlani S, Saracino D, Duyckaerts C, Brice A, Durr A, Le Ber I. Huin V, et al. Brain. 2020 Jan 1;143(1):303-319. doi: 10.1093/brain/awz377. Brain. 2020. PMID: 31855245 Free article.
Homozygous mutations in the progranulin gene (GRN) are associated with neuronal ceroid lipofuscinosis 11 (CLN11), a rare lysosomal-storage disorder characterized by cerebellar ataxia, seizures, retinitis pigmentosa, and cognitive disorders, usually beg …
Homozygous mutations in the progranulin gene (GRN) are associated with neuronal ceroid lipofuscinosis 11 (CLN11) …