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RagD auto-activating mutations impair MiT/TFE activity in kidney tubulopathy and cardiomyopathy syndrome.
Nat Commun. 2023 May 15;14(1):2775. doi: 10.1038/s41467-023-38428-2.
Nat Commun. 2023.
PMID: 37188688
Free PMC article.
Disease-related p63 DBD mutations impair DNA binding by distinct mechanisms and varying degree.
Osterburg C, Ferniani M, Antonini D, Frombach AS, D'Auria L, Osterburg S, Lotz R, Löhr F, Kehrloesser S, Zhou H, Missero C, Dötsch V.
Osterburg C, et al. Among authors: ferniani m.
Cell Death Dis. 2023 Apr 18;14(4):274. doi: 10.1038/s41419-023-05796-y.
Cell Death Dis. 2023.
PMID: 37072394
Free PMC article.
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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.
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