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dc.contributor.author | Fernández-Costa, Juan M. | - |
dc.contributor.author | García López, A. | - |
dc.contributor.author | Zúñiga, Sheila | - |
dc.contributor.author | Fernández-Pedrosa, Victoria | - |
dc.contributor.author | Felipo-Benavent, Amelia | - |
dc.contributor.author | Mata, Manuel de la | - |
dc.contributor.author | Jaka, Oihane | - |
dc.contributor.author | Aiastui, Ana | - |
dc.contributor.author | Hernández Torres, Francisco | - |
dc.contributor.author | Aguado, Begoña | - |
dc.contributor.author | Pérez-Alonso, Manuel | - |
dc.contributor.author | Vilchez, Jesús J. | - |
dc.contributor.author | López de Munain, Adolfo | - |
dc.contributor.author | Artero, Rubén | - |
dc.date.accessioned | 2014-04-25T10:05:44Z | - |
dc.date.available | 2014-04-25T10:05:44Z | - |
dc.date.issued | 2013 | - |
dc.identifier | doi: 10.1093/hmg/dds478 | - |
dc.identifier | issn: 0964-6906 | - |
dc.identifier.citation | Human Molecular Genetics 22: 704- 716 (2013) | - |
dc.identifier.uri | http://hdl.handle.net/10261/95880 | - |
dc.description.abstract | Myotonic dystrophy type 1 (DM1) is caused by the expansion of CTG repeats in the 3' untranslated region of the DMPK gene. Several missplicing events and transcriptional alterations have been described in DM1 patients. A large number of these defects have been reproduced in animal models expressing CTG repeats alone. Recent studies have also reported miRNA dysregulation in DM1 patients. In this work, a Drosophila model was used to investigate miRNA transcriptome alterations in the muscle, specifically triggered by CTG expansions. Twenty miRNAs were differentially expressed in CTG-expressing flies. Of these, 19 were down-regulated, whereas 1 was up-regulated. This trend was confirmed for those miRNAs conserved between Drosophila and humans (miR-1, miR-7 and miR-10) in muscle biopsies from DM1 patients. Consistently, at least seven target transcripts of these miRNAs were up-regulated in DM1 skeletal muscles. The mechanisms involved in dysregulation of miR-7 included a reduction of its primary precursor both in CTG-expressing flies and in DM1 patients. Additionally, a regulatory role for Muscleblind (Mbl) was also suggested for miR-1 and miR-7, as these miRNAs were down-regulated in flies where Mbl had been silenced. Finally, the physiological relevance of miRNA dysregulation was demonstrated for miR-10, since over-expression of this miRNA in Drosophila extended the lifespan of CTG-expressing flies. Taken together, our results contribute to our understanding of the origin and the role of miRNA alterations in DM1. © The Author 2012. Published by Oxford University Press. All rights reserved. | - |
dc.description.sponsorship | Fundacion Ramon Areces; Generalitat Valenciana (Prometeo/2010/081); Ministerio de Ciencia e Innovacion (SAF2006-09121) in collaboration with the biotechnology company Sistemas Genomicos S.L.; FIS (FIS09-00660) ; Isabel Gemio Foundation; Accion Especial de Enfermedades Raras ‘Cetegen’ by Genoma Espana Foundation; Generalitat Valenciana; Fundacion Ramon Areces; Banca Civica; Basque Government (AE-BFI-08.164); ISCIII; Ministerio de Economia y Competitividad | - |
dc.publisher | Oxford University Press | - |
dc.rights | closedAccess | - |
dc.title | Expanded CTG repeats trigger miRNA alterations in Drosophila that are conserved in myotonic dystrophy type 1 patients | - |
dc.type | artículo | - |
dc.identifier.doi | 10.1093/hmg/dds478 | - |
dc.date.updated | 2014-04-25T10:05:44Z | - |
dc.description.version | Peer Reviewed | - |
dc.language.rfc3066 | eng | - |
dc.type.coar | http://purl.org/coar/resource_type/c_6501 | es_ES |
item.openairetype | artículo | - |
item.grantfulltext | none | - |
item.cerifentitytype | Publications | - |
item.openairecristype | http://purl.org/coar/resource_type/c_18cf | - |
item.fulltext | No Fulltext | - |
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