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124 results

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Page 1
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: de matteis ma. 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.
Lysosomal calcium signalling regulates autophagy through calcineurin and ​TFEB.
Medina DL, Di Paola S, Peluso I, Armani A, De Stefani D, Venditti R, Montefusco S, Scotto-Rosato A, Prezioso C, Forrester A, Settembre C, Wang W, Gao Q, Xu H, Sandri M, Rizzuto R, De Matteis MA, Ballabio A. Medina DL, et al. Among authors: de matteis ma, de stefani d. Nat Cell Biol. 2015 Mar;17(3):288-99. doi: 10.1038/ncb3114. Nat Cell Biol. 2015. PMID: 25720963 Free PMC article.
FGF signalling regulates bone growth through autophagy.
Cinque L, Forrester A, Bartolomeo R, Svelto M, Venditti R, Montefusco S, Polishchuk E, Nusco E, Rossi A, Medina DL, Polishchuk R, De Matteis MA, Settembre C. Cinque L, et al. Among authors: de matteis ma. Nature. 2015 Dec 10;528(7581):272-5. doi: 10.1038/nature16063. Epub 2015 Nov 23. Nature. 2015. PMID: 26595272
Autophagosome-lysosome fusion triggers a lysosomal response mediated by TLR9 and controlled by OCRL.
De Leo MG, Staiano L, Vicinanza M, Luciani A, Carissimo A, Mutarelli M, Di Campli A, Polishchuk E, Di Tullio G, Morra V, Levtchenko E, Oltrabella F, Starborg T, Santoro M, Di Bernardo D, Devuyst O, Lowe M, Medina DL, Ballabio A, De Matteis MA. De Leo MG, et al. Among authors: de matteis ma. Nat Cell Biol. 2016 Aug;18(8):839-850. doi: 10.1038/ncb3386. Epub 2016 Jul 11. Nat Cell Biol. 2016. PMID: 27398910 Free PMC article.
Correction of oxidative stress enhances enzyme replacement therapy in Pompe disease.
Tarallo A, Damiano C, Strollo S, Minopoli N, Indrieri A, Polishchuk E, Zappa F, Nusco E, Fecarotta S, Porto C, Coletta M, Iacono R, Moracci M, Polishchuk R, Medina DL, Imbimbo P, Monti DM, De Matteis MA, Parenti G. Tarallo A, et al. Among authors: de matteis ma. EMBO Mol Med. 2021 Nov 8;13(11):e14434. doi: 10.15252/emmm.202114434. Epub 2021 Oct 4. EMBO Mol Med. 2021. PMID: 34606154 Free PMC article.
Drug Repurposing in Rare Diseases: An Integrative Study of Drug Screening and Transcriptomic Analysis in Nephropathic Cystinosis.
Bellomo F, De Leo E, Taranta A, Giaquinto L, Di Giovamberardino G, Montefusco S, Rega LR, Pastore A, Medina DL, Di Bernardo D, De Matteis MA, Emma F. Bellomo F, et al. Among authors: de matteis ma, de leo e. Int J Mol Sci. 2021 Nov 27;22(23):12829. doi: 10.3390/ijms222312829. Int J Mol Sci. 2021. PMID: 34884638 Free PMC article.
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: de matteis ma. Nat Commun. 2023 Jul 3;14(1):3911. doi: 10.1038/s41467-023-39643-7. Nat Commun. 2023. PMID: 37400440 Free PMC article.
Vesicular and non-vesicular transport feed distinct glycosylation pathways in the Golgi.
D'Angelo G, Uemura T, Chuang CC, Polishchuk E, Santoro M, Ohvo-Rekilä H, Sato T, Di Tullio G, Varriale A, D'Auria S, Daniele T, Capuani F, Johannes L, Mattjus P, Monti M, Pucci P, Williams RL, Burke JE, Platt FM, Harada A, De Matteis MA. D'Angelo G, et al. Among authors: de matteis ma. Nature. 2013 Sep 5;501(7465):116-20. doi: 10.1038/nature12423. Epub 2013 Aug 4. Nature. 2013. PMID: 23913272
124 results