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Digital microfluidic platform for dried blood spot newborn screening of lysosomal storage diseases in Campania region (Italy): Findings from the first year pilot project.
Scarcella M, Fecarotta S, Alagia M, Barretta F, Uomo F, De Pasquale V, Patel HS, Strisciuglio P, Parenti G, Frisso G, Pavone LM, Ruoppolo M. Scarcella M, et al. Among authors: ruoppolo m. Mol Genet Metab. 2024 Dec 31:109008. doi: 10.1016/j.ymgme.2024.109008. Online ahead of print. Mol Genet Metab. 2024. PMID: 39788860 Free article.
Cathepsin D is essential for the degradomic shift of macrophages required to resolve liver fibrosis.
Ruiz-Blázquez P, Fernández-Fernández M, Pistorio V, Martinez-Sanchez C, Costanzo M, Iruzubieta P, Zhuravleva E, Cacho-Pujol J, Ariño S, Del Castillo-Cruz A, Núñez S, Andersen JB, Ruoppolo M, Crespo J, García-Ruiz C, Pavone LM, Reinheckel T, Sancho-Bru P, Coll M, Fernández-Checa JC, Moles A. Ruiz-Blázquez P, et al. Among authors: ruoppolo m. Mol Metab. 2024 Sep;87:101989. doi: 10.1016/j.molmet.2024.101989. Epub 2024 Jul 15. Mol Metab. 2024. PMID: 39019115 Free PMC article.
Brain and behavioural anomalies caused by Tbx1 haploinsufficiency are corrected by vitamin B12.
Caterino M, Paris D, Torromino G, Costanzo M, Flore G, Tramice A, Golini E, Mandillo S, Cavezza D, Angelini C, Ruoppolo M, Motta A, De Leonibus E, Baldini A, Illingworth E, Lania G. Caterino M, et al. Among authors: ruoppolo m. Life Sci Alliance. 2024 Nov 20;8(2):e202403075. doi: 10.26508/lsa.202403075. Print 2025 Feb. Life Sci Alliance. 2024. PMID: 39567195 Free PMC article.
Metabolomic profiling of saliva from cystic fibrosis patients.
Caterino M, Costanzo M, Castaldo A, Iacotucci P, Carnovale V, Ruoppolo M, Gelzo M, Castaldo G. Caterino M, et al. Among authors: ruoppolo m. Sci Rep. 2025 Jan 2;15(1):479. doi: 10.1038/s41598-024-84191-9. Sci Rep. 2025. PMID: 39747338 Free PMC article.
Methylmalonic acidemia triggers lysosomal-autophagy dysfunctions.
Costanzo M, Cevenini A, Kollipara L, Caterino M, Bianco S, Pirozzi F, Scerra G, D'Agostino M, Pavone LM, Sickmann A, Ruoppolo M. Costanzo M, et al. Among authors: ruoppolo m. Cell Biosci. 2024 May 17;14(1):63. doi: 10.1186/s13578-024-01245-1. Cell Biosci. 2024. PMID: 38760822 Free PMC article.
Metabolic rewiring and autophagy inhibition correct lysosomal storage disease in mucopolysaccharidosis IIIB.
Scarcella M, Scerra G, Ciampa M, Caterino M, Costanzo M, Rinaldi L, Feliciello A, Anzilotti S, Fiorentino C, Renna M, Ruoppolo M, Pavone LM, D'Agostino M, De Pasquale V. Scarcella M, et al. Among authors: ruoppolo m. iScience. 2024 Jan 29;27(3):108959. doi: 10.1016/j.isci.2024.108959. eCollection 2024 Mar 15. iScience. 2024. PMID: 38361619 Free PMC article.
162 results