Structural and biochemical characterization of the C-terminal region of the human RTEL1 helicase.

Autor: Cortone G; Structural Biology Laboratory, Elettra-Sincrotrone Trieste, Trieste, Italy.; International School for Advanced Studies (SISSA), Trieste, Italy., Graewert MA; European Molecular Biology Laboratory (EMBL) Hamburg, Hamburg, Germany., Kanade M; Structural Biology Laboratory, Elettra-Sincrotrone Trieste, Trieste, Italy., Longo A; Structural Biology Laboratory, Elettra-Sincrotrone Trieste, Trieste, Italy.; Department of Chemistry, Università degli Studi di Trieste, Trieste, Italy., Hegde R; Structural Biology Laboratory, Elettra-Sincrotrone Trieste, Trieste, Italy., González-Magaña A; Instituto Biofisika and Departamento de Bioquímica y Biología Molecular (CSIC, UPV/EHU), University of the Basque Country, Leioa, Spain., Chaves-Arquero B; Centro de Investigaciones Biológicas Margarita Salas (CIB), CSIC, Madrid, Spain., Blanco FJ; Centro de Investigaciones Biológicas Margarita Salas (CIB), CSIC, Madrid, Spain., Napolitano LMR; Structural Biology Laboratory, Elettra-Sincrotrone Trieste, Trieste, Italy., Onesti S; Structural Biology Laboratory, Elettra-Sincrotrone Trieste, Trieste, Italy.

Publikováno v: Protein science : a publication of the Protein Society [Protein Sci] 2024 Sep; Vol. 33 (9), pp. e5093.

Gasparo Angiolini tra Vienna e l'Italia. Antologia di libretti

Autor: Onesti, S

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3657::640bb565c32bd5da71de459c3553fe0f
https://hdl.handle.net/11577/3460277

Mitochondrial defect in Warsaw syndrome cells genomic integrity and mitochondrial metabolism defects in Warsaw syndrome cells: A comparison with Fanconi anemia

Autor: Bottega, R., Ravera, S., Napolitano, L. M. R., Chiappetta, V., Zini, N., Crescenzi, B., Arniani, S., Faleschini, M., Cortone, G., Faletra, F., Medagli, B., Sirchia, F., Moretti, M., de Lange, J., Cappelli, E., Mecucci, C., Onesti, S., Pisani, F. M., Savoia, A.

Warsaw breakage syndrome (WABS), is caused by biallelic mutations of DDX11, a gene coding a DNA helicase. We have recently reported two affected sisters, compound heterozygous for a missense (p.Leu836Pro) and a frameshift (p.Lys303Glufs*22) variant.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::6fac6543e5394d63a8fd41d5941c99b2
Wiley Online Library

Genomic integrity and mitochondrial metabolism defects in Warsaw syndrome cells: a comparison with Fanconi anemia.

Autor: Bottega R; Institute for Maternal and Child Health-IRCCS Burlo Garofolo, Trieste, Italy., Ravera S; Department of Experimental Medicine, University of Genova, Genova, Italy., Napolitano LMR; Structural Biology Laboratory, Elettra-Sincrotrone Trieste, Trieste, Italy., Chiappetta V; Istituto di Biochimica e Biologia Cellulare (IBBC), Consiglio Nazionale delle Ricerche (CNR), Naples, Italy., Zini N; CNR-National Research Council of Italy, Institute of Molecular Genetics 'Luigi Luca Cavalli-Sforza'-Unit of Bologna, Bologna, Italy.; IRCCS Istituto Ortopedico Rizzoli, Bologna, Italy., Crescenzi B; Sezione di Ematologia ed Immunologia Clinica, Centro Ricerche Emato-Oncologiche, University of Perugia, Perugia, Italy., Arniani S; Sezione di Ematologia ed Immunologia Clinica, Centro Ricerche Emato-Oncologiche, University of Perugia, Perugia, Italy., Faleschini M; Institute for Maternal and Child Health-IRCCS Burlo Garofolo, Trieste, Italy., Cortone G; Structural Biology Laboratory, Elettra-Sincrotrone Trieste, Trieste, Italy.; International School for Advanced Studies (SISSA), Trieste, Italy., Faletra F; Institute for Maternal and Child Health-IRCCS Burlo Garofolo, Trieste, Italy., Medagli B; Structural Biology Laboratory, Elettra-Sincrotrone Trieste, Trieste, Italy.; Department of Chemical and Pharmaceutical Sciences, University of Trieste, Trieste, Italy., Sirchia F; Institute for Maternal and Child Health-IRCCS Burlo Garofolo, Trieste, Italy., Moretti M; Sezione di Ematologia ed Immunologia Clinica, Centro Ricerche Emato-Oncologiche, University of Perugia, Perugia, Italy., de Lange J; Amsterdam UMC, Clinical Genetics, Section Oncogenetics, Cancer Center Amsterdam, Amsterdam, The Netherlands., Cappelli E; UO Ematologia, IRCCS Istituto Giannina Gaslini, Genova, Italy, Genova, Italy., Mecucci C; Sezione di Ematologia ed Immunologia Clinica, Centro Ricerche Emato-Oncologiche, University of Perugia, Perugia, Italy., Onesti S; Structural Biology Laboratory, Elettra-Sincrotrone Trieste, Trieste, Italy., Pisani FM; Istituto di Biochimica e Biologia Cellulare (IBBC), Consiglio Nazionale delle Ricerche (CNR), Naples, Italy., Savoia A; Institute for Maternal and Child Health-IRCCS Burlo Garofolo, Trieste, Italy.; Department of Medical Sciences, University of Trieste, Trieste, Italy.

Publikováno v: Journal of cellular physiology [J Cell Physiol] 2021 Aug; Vol. 236 (8), pp. 5664-5675. Date of Electronic Publication: 2021 Jan 11.

Introduzione

Autor: Randi, E., Onesti, S.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3657::89d62a378e37c91800babf2c24f80934
http://hdl.handle.net/11577/3308039