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RagD auto-activating mutations impair MiT/TFE activity in kidney tubulopathy and cardiomyopathy syndrome.
Sambri I, Ferniani M, Campostrini G, Testa M, Meraviglia V, de Araujo MEG, Dokládal L, Vilardo C, Monfregola J, Zampelli N, Vecchio Blanco FD, Torella A, Ruosi C, Fecarotta S, Parenti G, Staiano L, Bellin M, Huber LA, De Virgilio C, Trepiccione F, Nigro V, Ballabio A. Sambri I, et al. Among authors: ferniani m. Nat Commun. 2023 May 15;14(1):2775. doi: 10.1038/s41467-023-38428-2. Nat Commun. 2023. PMID: 37188688 Free PMC article.
Protein aggregation of the p63 transcription factor underlies severe skin fragility in AEC syndrome.
Russo C, Osterburg C, Sirico A, Antonini D, Ambrosio R, Würz JM, Rinnenthal J, Ferniani M, Kehrloesser S, Schäfer B, Güntert P, Sinha S, Dötsch V, Missero C. Russo C, et al. Among authors: ferniani m. Proc Natl Acad Sci U S A. 2018 Jan 30;115(5):E906-E915. doi: 10.1073/pnas.1713773115. Epub 2018 Jan 16. Proc Natl Acad Sci U S A. 2018. PMID: 29339502 Free PMC article.