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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: de leonibus e. 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.
A highly secreted sulphamidase engineered to cross the blood-brain barrier corrects brain lesions of mice with mucopolysaccharidoses type IIIA.
Sorrentino NC, D'Orsi L, Sambri I, Nusco E, Monaco C, Spampanato C, Polishchuk E, Saccone P, De Leonibus E, Ballabio A, Fraldi A. Sorrentino NC, et al. Among authors: de leonibus e. EMBO Mol Med. 2013 May;5(5):675-90. doi: 10.1002/emmm.201202083. Epub 2013 Apr 9. EMBO Mol Med. 2013. PMID: 23568409 Free PMC article.
Lysosomal dysfunction disrupts presynaptic maintenance and restoration of presynaptic function prevents neurodegeneration in lysosomal storage diseases.
Sambri I, D'Alessio R, Ezhova Y, Giuliano T, Sorrentino NC, Cacace V, De Risi M, Cataldi M, Annunziato L, De Leonibus E, Fraldi A. Sambri I, et al. Among authors: de risi m, de leonibus e. EMBO Mol Med. 2017 Jan;9(1):112-132. doi: 10.15252/emmm.201606965. EMBO Mol Med. 2017. PMID: 27881461 Free PMC article.
AAV-mediated transcription factor EB (TFEB) gene delivery ameliorates muscle pathology and function in the murine model of Pompe Disease.
Gatto F, Rossi B, Tarallo A, Polishchuk E, Polishchuk R, Carrella A, Nusco E, Alvino FG, Iacobellis F, De Leonibus E, Auricchio A, Diez-Roux G, Ballabio A, Parenti G. Gatto F, et al. Among authors: de leonibus e. Sci Rep. 2017 Nov 8;7(1):15089. doi: 10.1038/s41598-017-15352-2. Sci Rep. 2017. PMID: 29118420 Free PMC article.
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: de risi m, de leonibus e. 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.
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: de risi m, de leonibus e. Traffic. 2022 May;23(5):238-269. doi: 10.1111/tra.12839. Epub 2022 Apr 24. Traffic. 2022. PMID: 35343629 Free PMC article. Review.
miR-181a/b downregulation exerts a protective action on mitochondrial disease models.
Indrieri A, Carrella S, Romano A, Spaziano A, Marrocco E, Fernandez-Vizarra E, Barbato S, Pizzo M, Ezhova Y, Golia FM, Ciampi L, Tammaro R, Henao-Mejia J, Williams A, Flavell RA, De Leonibus E, Zeviani M, Surace EM, Banfi S, Franco B. Indrieri A, et al. Among authors: de leonibus e. EMBO Mol Med. 2019 May;11(5):e8734. doi: 10.15252/emmm.201708734. EMBO Mol Med. 2019. PMID: 30979712 Free PMC article.
The Amyloid Inhibitor CLR01 Relieves Autophagy and Ameliorates Neuropathology in a Severe Lysosomal Storage Disease.
Monaco A, Maffia V, Sorrentino NC, Sambri I, Ezhova Y, Giuliano T, Cacace V, Nusco E, De Risi M, De Leonibus E, Schrader T, Klärner FG, Bitan G, Fraldi A. Monaco A, et al. Among authors: de risi m, de leonibus e. Mol Ther. 2020 Apr 8;28(4):1167-1176. doi: 10.1016/j.ymthe.2020.02.005. Epub 2020 Feb 12. Mol Ther. 2020. PMID: 32087148 Free PMC article.
65 results