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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.
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.