Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Paula Escudero-Ferruz"'
Autor:
Paula Escudero-Ferruz, Neus Ontiveros, Claudia Cano-Estrada, Diane J. Sutcliffe, H. A. Jinnah, Rosa J. Torres, José M. López
Publikováno v:
Molecular Medicine, Vol 30, Iss 1, Pp 1-20 (2024)
Abstract Background Lesch-Nyhan disease (LND) is a severe neurological disorder caused by the genetic deficiency of hypoxanthine–guanine phosphoribosyltransferase (HGprt), an enzyme involved in the salvage synthesis of purines. To compensate this d
Externí odkaz:
https://doaj.org/article/830ee5f58ba54cb1a6a2b21e4d1e1c43
Autor:
Marta de Castro-Miró, Raul Tonda, Paula Escudero-Ferruz, Rosa Andrés, Andrés Mayor-Lorenzo, Joaquín Castro, Marcela Ciccioli, Daniel A Hidalgo, Juan José Rodríguez-Ezcurra, Jorge Farrando, Juan J Pérez-Santonja, Bru Cormand, Gemma Marfany, Roser Gonzàlez-Duarte
Publikováno v:
PLoS ONE, Vol 11, Iss 12, p e0168966 (2016)
NGS-based genetic diagnosis has completely revolutionized the human genetics field. In this study, we have aimed to identify new genes and mutations by Whole Exome Sequencing (WES) responsible for inherited retinal dystrophies (IRD).A cohort of 33 pe
Externí odkaz:
https://doaj.org/article/bd0127ebb2b94afb975e06e7336f2a8c
Autor:
Sònia Medina-Giró, Zoltan Karman, Zoltán Lipinszki, Paula Escudero-Ferruz, Mònica Torras-Llort, Olga Moreno-Moreno, Marcin R. Przewloka, Fernando Azorín
Publikováno v:
Communications Biology
Digital.CSIC. Repositorio Institucional del CSIC
instname
Communications Biology, Vol 3, Iss 1, Pp 1-13 (2020)
Digital.CSIC. Repositorio Institucional del CSIC
instname
Communications Biology, Vol 3, Iss 1, Pp 1-13 (2020)
© The Author(s) 2020
Barrier-to-Autointegration Factor (BAF) is a conserved nuclear envelope (NE) component that binds chromatin and helps its anchoring to the NE. Cycles of phosphorylation and dephosphorylation control BAF function. Entering m
Barrier-to-Autointegration Factor (BAF) is a conserved nuclear envelope (NE) component that binds chromatin and helps its anchoring to the NE. Cycles of phosphorylation and dephosphorylation control BAF function. Entering m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4474527c7ae3fe8850621b2948cd2fa5
https://eprints.soton.ac.uk/444492/
https://eprints.soton.ac.uk/444492/
Autor:
Barbara Steurer, Marvin van Toorn, Paula Escudero-Ferruz, Yasemin Turkyilmaz, W. van Leeuwen, Jurgen A. Marteijn
Publikováno v:
Nucleic Acids Research
Nucleic Acids Research, 47(7), 3536-3549. Oxford University Press
Nucleic Acids Research, 47(7), 3536-3549. Oxford University Press
UV light induces cyclobutane pyrimidine dimers (CPDs) and pyrimidine-pyrimidone (6-4) photoproducts (6-4PPs), which can result in carcinogenesis and aging, if not properly repaired by nucleotide excision repair (NER). Assays to determine DNA damage l
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b59cf89a8295dfc9ef7be4bcc324ed5
https://pubmed.ncbi.nlm.nih.gov/30698791
https://pubmed.ncbi.nlm.nih.gov/30698791
Publikováno v:
Digital.CSIC. Repositorio Institucional del CSIC
instname
instname
In Drosophila, the Heterochromatin Protein 1c (HP1c) forms a transcriptional complex with the zinc-finger proteins WOC and ROW, and the extraproteasomal ubiquitin receptor Dsk2. This complex localizes at promoters of active genes and it is required f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d9dc39fb1565bd80072d2c51d0c5eb2
https://doi.org/10.1016/j.bbagrm.2020.194492
https://doi.org/10.1016/j.bbagrm.2020.194492