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A stagewise response to mitochondrial dysfunction in mitochondrial DNA maintenance disorders.
Vincent AE, Chen C, Gomes TB, Di Leo V, Laalo T, Pabis K, Capaldi R, Marusich MF, McDonald D, Filby A, Fuller A, Lehmann Urban D, Zierz S, Deschauer M, Turnbull D, Reeve AK, Lawless C. Vincent AE, et al. Among authors: di leo v. Biochim Biophys Acta Mol Basis Dis. 2024 Jun;1870(5):167131. doi: 10.1016/j.bbadis.2024.167131. Epub 2024 Mar 21. Biochim Biophys Acta Mol Basis Dis. 2024. PMID: 38521420 Free article.
Two type I topoisomerases maintain DNA topology in human mitochondria.
Menger KE, Chapman J, Díaz-Maldonado H, Khazeem MM, Deen D, Erdinc D, Casement JW, Di Leo V, Pyle A, Rodríguez-Luis A, Cowell IG, Falkenberg M, Austin CA, Nicholls TJ. Menger KE, et al. Among authors: di leo v. Nucleic Acids Res. 2022 Oct 28;50(19):11154-11174. doi: 10.1093/nar/gkac857. Nucleic Acids Res. 2022. PMID: 36215039 Free PMC article.
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy.
Töpf A, Cox D, Zaharieva IT, Di Leo V, Sarparanta J, Jonson PH, Sealy IM, Smolnikov A, White RJ, Vihola A, Savarese M, Merteroglu M, Wali N, Laricchia KM, Venturini C, Vroling B, Stenton SL, Cummings BB, Harris E, Marini-Bettolo C, Diaz-Manera J, Henderson M, Barresi R, Duff J, England EM, Patrick J, Al-Husayni S, Biancalana V, Beggs AH, Bodi I, Bommireddipalli S, Bönnemann CG, Cairns A, Chiew MT, Claeys KG, Cooper ST, Davis MR, Donkervoort S, Erasmus CE, Fassad MR, Genetti CA, Grosmann C, Jungbluth H, Kamsteeg EJ, Lornage X, Löscher WN, Malfatti E, Manzur A, Martí P, Mongini TE, Muelas N, Nishikawa A, O'Donnell-Luria A, Ogonuki N, O'Grady GL, O'Heir E, Paquay S, Phadke R, Pletcher BA, Romero NB, Schouten M, Shah S, Smuts I, Sznajer Y, Tasca G, Taylor RW, Tuite A, Van den Bergh P, VanNoy G, Voermans NC, Wanschitz JV, Wraige E, Yoshimura K, Oates EC, Nakagawa O, Nishino I, Laporte J, Vilchez JJ, MacArthur DG, Sarkozy A, Cordell HJ, Udd B, Busch-Nentwich EM, Muntoni F, Straub V. Töpf A, et al. Among authors: di leo v. Nat Genet. 2024 Mar;56(3):395-407. doi: 10.1038/s41588-023-01651-0. Epub 2024 Mar 1. Nat Genet. 2024. PMID: 38429495 Free PMC article.
Refractory IgA Nephropathy: A Challenge for Future Nephrologists.
Di Leo V, Annese F, Papadia F, Russo MS, Giliberti M, Sallustio F, Gesualdo L. Di Leo V, et al. Medicina (Kaunas). 2024 Feb 5;60(2):274. doi: 10.3390/medicina60020274. Medicina (Kaunas). 2024. PMID: 38399561 Free PMC article.
Elevated levels of IL-6 in IgA nephropathy patients are induced by an epigenetically driven mechanism modulated by viral and bacterial RNA.
Sallustio F, Picerno A, Cimmarusti MT, Montenegro F, Curci C, De Palma G, Sivo C, Annese F, Fontò G, Stasi A, Pesce F, Tafuri S, Di Leo V, Gesualdo L. Sallustio F, et al. Among authors: di leo v. Eur J Intern Med. 2023 Dec;118:108-117. doi: 10.1016/j.ejim.2023.07.045. Epub 2023 Aug 5. Eur J Intern Med. 2023. PMID: 37550110 Free article.
Broadening the Berlin definition of ARDS to patients receiving high-flow nasal oxygen: an observational study in patients with acute hypoxemic respiratory failure due to COVID-19.
van der Ven FLIM, Valk CMA, Blok S, Brouwer MG, Go DM, Lokhorst A, Swart P, van Meenen DMP, Paulus F, Schultz MJ; PRoAcT–COVID study investigators. van der Ven FLIM, et al. Ann Intensive Care. 2023 Jul 14;13(1):64. doi: 10.1186/s13613-023-01161-6. Ann Intensive Care. 2023. PMID: 37452196 Free PMC article.
83 results