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Repurposing of tamoxifen ameliorates CLN3 and CLN7 disease phenotype.
Soldati C, Lopez-Fabuel I, Wanderlingh LG, Garcia-Macia M, Monfregola J, Esposito A, Napolitano G, Guevara-Ferrer M, Scotto Rosato A, Krogsaeter EK, Paquet D, Grimm CM, Montefusco S, Braulke T, Storch S, Mole SE, De Matteis MA, Ballabio A, Sampaio JL, McKay T, Johannes L, Bolaños JP, Medina DL. Soldati C, et al. Among authors: paquet d. EMBO Mol Med. 2021 Oct 7;13(10):e13742. doi: 10.15252/emmm.202013742. Epub 2021 Aug 19. EMBO Mol Med. 2021. PMID: 34411438 Free PMC article.
TPC2 rescues lysosomal storage in mucolipidosis type IV, Niemann-Pick type C1, and Batten disease.
Scotto Rosato A, Krogsaeter EK, Jaślan D, Abrahamian C, Montefusco S, Soldati C, Spix B, Pizzo MT, Grieco G, Böck J, Wyatt A, Wünkhaus D, Passon M, Stieglitz M, Keller M, Hermey G, Markmann S, Gruber-Schoffnegger D, Cotman S, Johannes L, Crusius D, Boehm U, Wahl-Schott C, Biel M, Bracher F, De Leonibus E, Polishchuk E, Medina DL, Paquet D, Grimm C. Scotto Rosato A, et al. Among authors: paquet d. EMBO Mol Med. 2022 Sep 7;14(9):e15377. doi: 10.15252/emmm.202115377. Epub 2022 Aug 5. EMBO Mol Med. 2022. PMID: 35929194 Free PMC article.
Loss of TREM2 rescues hyperactivation of microglia, but not lysosomal deficits and neurotoxicity in models of progranulin deficiency.
Reifschneider A, Robinson S, van Lengerich B, Gnörich J, Logan T, Heindl S, Vogt MA, Weidinger E, Riedl L, Wind K, Zatcepin A, Pesämaa I, Haberl S, Nuscher B, Kleinberger G, Klimmt J, Götzl JK, Liesz A, Bürger K, Brendel M, Levin J, Diehl-Schmid J, Suh J, Di Paolo G, Lewcock JW, Monroe KM, Paquet D, Capell A, Haass C. Reifschneider A, et al. Among authors: paquet d. EMBO J. 2022 Feb 15;41(4):e109108. doi: 10.15252/embj.2021109108. Epub 2022 Jan 12. EMBO J. 2022. PMID: 35019161 Free PMC article.
Loss-of-function of human PINK1 results in mitochondrial pathology and can be rescued by parkin.
Exner N, Treske B, Paquet D, Holmström K, Schiesling C, Gispert S, Carballo-Carbajal I, Berg D, Hoepken HH, Gasser T, Krüger R, Winklhofer KF, Vogel F, Reichert AS, Auburger G, Kahle PJ, Schmid B, Haass C. Exner N, et al. Among authors: paquet d. J Neurosci. 2007 Nov 7;27(45):12413-8. doi: 10.1523/JNEUROSCI.0719-07.2007. J Neurosci. 2007. PMID: 17989306 Free PMC article.
60 results