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Page 1
GMPPB-CDG Results in Lysosomal Dysfunction and Acid Alpha-Glucosidase Deficiency.
Damiano C, Tarallo A, Gragnaniello V, Strollo S, Fecarotta S, Tuzzi MR, Polishchuk E, Montefusco S, Valanzano A, Assunto A, Minopoli N, Casa RD, Polishchuk R, Groen SLMI', Medina DL, Bertini E, Carrozzo R, Emmerich J, Schoser B, Pijnappel WWMP, Parenti G. Damiano C, et al. Among authors: montefusco s. J Inherit Metab Dis. 2026 Jan;49(1):e70136. doi: 10.1002/jimd.70136. J Inherit Metab Dis. 2026. PMID: 41554119 Free PMC article.
TRPML-1 Dysfunction and Renal Tubulopathy in Mucolipidosis Type IV.
Grieco G, Montefusco S, Nusco E, Capuozzo A, Cervellini F, Polishchuk E, Bishop M, Miele A, D'Apolito L, La Vecchia C, Aurilia M, Schiavo M, Staiano L, Cesana M, Oberman R, Lynch AV, Musolino P, Trepiccione F, Grishchuk Y, Medina DL. Grieco G, et al. Among authors: montefusco s. J Am Soc Nephrol. 2025 Apr 1;36(4):587-601. doi: 10.1681/ASN.0000000567. Epub 2024 Dec 4. J Am Soc Nephrol. 2025. PMID: 40168161 Free PMC article.
Sestrin2 drives ER-phagy in response to protein misfolding.
De Leonibus C, Maddaluno M, Ferriero R, Besio R, Cinque L, Lim PJ, Palma A, De Cegli R, Gagliotta S, Montefusco S, Iavazzo M, Rohrbach M, Giunta C, Polishchuk E, Medina DL, Di Bernardo D, Forlino A, Piccolo P, Settembre C. De Leonibus C, et al. Among authors: montefusco s. Dev Cell. 2024 Aug 19;59(16):2035-2052.e10. doi: 10.1016/j.devcel.2024.07.004. Epub 2024 Aug 1. Dev Cell. 2024. PMID: 39094564 Free PMC article.
TFEB controls syncytiotrophoblast formation and hormone production in placenta.
Cesana M, Tufano G, Panariello F, Zampelli N, Soldati C, Mutarelli M, Montefusco S, Grieco G, Sepe LV, Rossi B, Nusco E, Rossignoli G, Panebianco G, Merciai F, Salviati E, Sommella EM, Campiglia P, Martello G, Cacchiarelli D, Medina DL, Ballabio A. Cesana M, et al. Among authors: montefusco s. Cell Death Differ. 2024 Nov;31(11):1439-1451. doi: 10.1038/s41418-024-01337-y. Epub 2024 Jul 4. Cell Death Differ. 2024. PMID: 38965447 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: montefusco s. 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.
Current methods to analyze lysosome morphology, positioning, motility and function.
Barral DC, Staiano L, Guimas Almeida C, Cutler DF, Eden ER, Futter CE, Galione A, Marques ARA, Medina DL, Napolitano G, Settembre C, Vieira OV, Aerts JMFG, Atakpa-Adaji P, Bruno G, Capuozzo A, De Leonibus E, Di Malta C, Escrevente C, Esposito A, Grumati P, Hall MJ, Teodoro RO, Lopes SS, Luzio JP, Monfregola J, Montefusco S, Platt FM, Polishchuck R, De Risi M, Sambri I, Soldati C, Seabra MC. Barral DC, et al. Among authors: montefusco s. Traffic. 2022 May;23(5):238-269. doi: 10.1111/tra.12839. Epub 2022 Apr 24. Traffic. 2022. PMID: 35343629 Free PMC article. Review.
Fluoxetine ameliorates mucopolysaccharidosis type IIIA.
Capuozzo A, Montefusco S, Cacace V, Sofia M, Esposito A, Napolitano G, Nusco E, Polishchuk E, Pizzo MT, De Risi M, De Leonibus E, Sorrentino NC, Medina DL. Capuozzo A, et al. Among authors: montefusco s. Mol Ther. 2022 Apr 6;30(4):1432-1450. doi: 10.1016/j.ymthe.2022.01.037. Epub 2022 Feb 2. Mol Ther. 2022. PMID: 35121108 Free PMC article.
28 results