dc.creator | Moriel Carretero, María | es |
dc.creator | Herrera Moyano, Emilia | es |
dc.creator | Aguilera López, Andrés | es |
dc.date.accessioned | 2017-03-15T13:46:54Z | |
dc.date.available | 2017-03-15T13:46:54Z | |
dc.date.issued | 2015 | |
dc.identifier.citation | Moriel Carretero, M., Herrera Moyano, E. y Aguilera López, A. (2015). A unified model for the molecular basis of Xeroderma pigmentosum-Cockayne Syndrome. Rare Diseases, 3 (1), e1079362-1-e1079362-6. | |
dc.identifier.issn | 2167-5511 | es |
dc.identifier.uri | http://hdl.handle.net/11441/55889 | |
dc.description.abstract | Nucleotide Excision Repair (NER) is a pathway that removes lesions distorting the DNA helix. The molecular basis of the rare diseases Xeroderma pigmentosum (XP) and Cockayne Syndrome (CS) are explained based on the defects happening in 2 NER branches: Global-Genome Repair and Transcription-Coupled Repair, respectively. Nevertheless, both afflictions sporadically occur together, giving rise to XP/CS; however, the molecular basis of XP/CS is not understood very well. Many efforts have been made to clarify why mutations in only 4 NER genes, namely XPB, XPD, XPF and XPG, are the basis of this disease. Effort has also been made to unravel why mutations within these genes lead to XP, XP/CS, or other pathologies. We have recently contributed to the disclosure of this puzzle by characterizing Rad3/XPD mutations in Saccharomyces cerevisiae and human cells. Based on our, and others', observations, we propose a model compatible with all XP/CS cases and the current bibliography. | es |
dc.format | application/pdf | es |
dc.language.iso | eng | es |
dc.publisher | Taylor & Francis Open | es |
dc.relation.ispartof | Rare Diseases, 3 (1), e1079362-1-e1079362-6. | |
dc.rights | Attribution-NonCommercial-NoDerivatives 4.0 Internacional | * |
dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/4.0/ | * |
dc.subject | Cockayne Syndrome | es |
dc.subject | Nucleotide excision repair (NER) | es |
dc.subject | Rad3/XPD | es |
dc.subject | Xeroderma pigmentosum | es |
dc.title | A unified model for the molecular basis of Xeroderma pigmentosum-Cockayne Syndrome | es |
dc.type | info:eu-repo/semantics/article | es |
dcterms.identifier | https://ror.org/03yxnpp24 | |
dc.type.version | info:eu-repo/semantics/publishedVersion | es |
dc.rights.accessRights | info:eu-repo/semantics/openAccess | es |
dc.contributor.affiliation | Universidad de Sevilla. Departamento de Genética | es |
dc.relation.publisherversion | http://doi.org/10.1080/21675511.2015.1079362 | es |
dc.identifier.doi | 10.1080/21675511.2015.1079362 | es |
idus.format.extent | 7 p. | es |
dc.journaltitle | Rare Diseases | es |
dc.publication.volumen | 3 | es |
dc.publication.issue | 1 | es |
dc.publication.initialPage | e1079362-1 | es |
dc.publication.endPage | e1079362-6 | es |