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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.
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.
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.
miR-181a/b downregulation: a mutation-independent therapeutic approach for inherited retinal diseases.
Carrella S, Di Guida M, Brillante S, Piccolo D, Ciampi L, Guadagnino I, Garcia Piqueras J, Pizzo M, Marrocco E, Molinari M, Petrogiannakis G, Barbato S, Ezhova Y, Auricchio A, Franco B, De Leonibus E, Surace EM, Indrieri A, Banfi S. Carrella S, et al. Among authors: de leonibus e. EMBO Mol Med. 2022 Nov 8;14(11):e15941. doi: 10.15252/emmm.202215941. Epub 2022 Oct 4. EMBO Mol Med. 2022. PMID: 36194668 Free PMC article.
Altered heparan sulfate metabolism during development triggers dopamine-dependent autistic-behaviours in models of lysosomal storage disorders.
De Risi M, Tufano M, Alvino FG, Ferraro MG, Torromino G, Gigante Y, Monfregola J, Marrocco E, Pulcrano S, Tunisi L, Lubrano C, Papy-Garcia D, Tuchman Y, Salleo A, Santoro F, Bellenchi GC, Cristino L, Ballabio A, Fraldi A, De Leonibus E. De Risi M, et al. Among authors: de leonibus e. Nat Commun. 2021 Jun 9;12(1):3495. doi: 10.1038/s41467-021-23903-5. Nat Commun. 2021. PMID: 34108486 Free PMC article.
67 results