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The mutation R107Q alters mtSSB ssDNA compaction ability and binding dynamics.
Martucci M, Moretton A, Tarrés-Solé A, Ropars V, Lambert L, Vernet P, Solà M, Falkenberg M, Farge G, van den Wildenberg S. Martucci M, et al. Among authors: tarres sole a. Nucleic Acids Res. 2024 May 14:gkae354. doi: 10.1093/nar/gkae354. Online ahead of print. Nucleic Acids Res. 2024. PMID: 38742632
Dominant mutations in mtDNA maintenance gene SSBP1 cause optic atrophy and foveopathy.
Piro-Mégy C, Sarzi E, Tarrés-Solé A, Péquignot M, Hensen F, Quilès M, Manes G, Chakraborty A, Sénéchal A, Bocquet B, Cazevieille C, Roubertie A, Müller A, Charif M, Goudenège D, Lenaers G, Wilhelm H, Kellner U, Weisschuh N, Wissinger B, Zanlonghi X, Hamel C, Spelbrink JN, Sola M, Delettre C. Piro-Mégy C, et al. Among authors: tarres sole a. J Clin Invest. 2020 Jan 2;130(1):143-156. doi: 10.1172/JCI128513. J Clin Invest. 2020. PMID: 31550237 Free PMC article.
DNA specificities modulate the binding of human transcription factor A to mitochondrial DNA control region.
Cuppari A, Fernández-Millán P, Battistini F, Tarrés-Solé A, Lyonnais S, Iruela G, Ruiz-López E, Enciso Y, Rubio-Cosials A, Prohens R, Pons M, Alfonso C, Tóth K, Rivas G, Orozco M, Solà M. Cuppari A, et al. Among authors: tarres sole a. Nucleic Acids Res. 2019 Jul 9;47(12):6519-6537. doi: 10.1093/nar/gkz406. Nucleic Acids Res. 2019. PMID: 31114891 Free PMC article.