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Loss of the batten disease protein CLN3 leads to mis-trafficking of M6PR and defective autophagic-lysosomal reformation.
Calcagni' A, Staiano L, Zampelli N, Minopoli N, Herz NJ, Di Tullio G, Huynh T, Monfregola J, Esposito A, Cirillo C, Bajic A, Zahabiyon M, Curnock R, Polishchuk E, Parkitny L, Medina DL, Pastore N, Cullen PJ, Parenti G, De Matteis MA, Grumati P, Ballabio A. Calcagni' A, et al. Among authors: zampelli n. Nat Commun. 2023 Jul 3;14(1):3911. doi: 10.1038/s41467-023-39643-7. Nat Commun. 2023. PMID: 37400440 Free PMC article.
RagD auto-activating mutations impair MiT/TFE activity in kidney tubulopathy and cardiomyopathy syndrome.
Sambri I, Ferniani M, Campostrini G, Testa M, Meraviglia V, de Araujo MEG, Dokládal L, Vilardo C, Monfregola J, Zampelli N, Vecchio Blanco FD, Torella A, Ruosi C, Fecarotta S, Parenti G, Staiano L, Bellin M, Huber LA, De Virgilio C, Trepiccione F, Nigro V, Ballabio A. Sambri I, et al. Among authors: zampelli n. Nat Commun. 2023 May 15;14(1):2775. doi: 10.1038/s41467-023-38428-2. Nat Commun. 2023. PMID: 37188688 Free PMC article.
Modelling TFE renal cell carcinoma in mice reveals a critical role of WNT signaling.
Calcagnì A, Kors L, Verschuren E, De Cegli R, Zampelli N, Nusco E, Confalonieri S, Bertalot G, Pece S, Settembre C, Malouf GG, Leemans JC, de Heer E, Salvatore M, Peters DJ, Di Fiore PP, Ballabio A. Calcagnì A, et al. Among authors: zampelli n. Elife. 2016 Sep 26;5:e17047. doi: 10.7554/eLife.17047. Elife. 2016. PMID: 27668431 Free PMC article.