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doi: 10.1038/nm.3046
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Campo DC | Valor | Lengua/Idioma |
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dc.contributor.author | Luxán, Guillermo | - |
dc.contributor.author | Casanova, Jesús Carlos | - |
dc.contributor.author | Martínez Poveda, Beatriz | - |
dc.contributor.author | Prados, Belén | - |
dc.contributor.author | D'Amato, Gaetano | - |
dc.contributor.author | MacGrogan, Donal | - |
dc.contributor.author | González Rajal, Álvaro | - |
dc.contributor.author | Dobarro, David | - |
dc.contributor.author | Torroja, Carlos | - |
dc.contributor.author | Martínez, Fernando | - |
dc.contributor.author | Izquierdo García, José Luis | - |
dc.contributor.author | Fernández Friera, Leticia | - |
dc.contributor.author | Sabater Molina, María | - |
dc.contributor.author | Kong, Young-Y | - |
dc.contributor.author | Pizarro, Gonzalo | - |
dc.contributor.author | Ibañez, Borja | - |
dc.contributor.author | Medrano, Constancio | - |
dc.contributor.author | García Pavía, Pablo | - |
dc.contributor.author | Gimeno, Juan R. | - |
dc.contributor.author | Monserrat, Lorenzo | - |
dc.contributor.author | Jiménez Borreguero, Luis J. | - |
dc.contributor.author | Pompa, José Luis de la | - |
dc.contributor.other | Facultades, Departamentos, Servicios y Escuelas::Departamentos de la UMU::Ciencias Sociosanitarias | - |
dc.date.accessioned | 2024-02-12T11:32:39Z | - |
dc.date.available | 2024-02-12T11:32:39Z | - |
dc.date.issued | 2013-01-13 | - |
dc.identifier.citation | Nature Medicine. 2013 Feb;19(2):193-201 | es |
dc.identifier.issn | Print: 1078-8956 | - |
dc.identifier.issn | Electronic: 1546-170X | - |
dc.identifier.uri | http://hdl.handle.net/10201/139276 | - |
dc.description | ©2013. This document is the Published, version of a Published Work that appeared in final form in Nature Medicine. To access the final edited and published work see https://doi.org/10.1038/nm.3046 | - |
dc.description.abstract | Left ventricular noncompaction (LVNC) causes prominent ventricular trabeculations and reduces cardiac systolic function. The clinical presentation of LVNC ranges from asymptomatic to heart failure. We show that germline mutations in human MIB1 (mindbomb homolog 1), which encodes an E3 ubiquitin ligase that promotes endocytosis of the NOTCH ligands DELTA and JAGGED, cause LVNC in autosomal-dominant pedigrees, with affected individuals showing reduced NOTCH1 activity and reduced expression of target genes. Functional studies in cells and zebrafish embryos and in silico modeling indicate that MIB1 functions as a dimer, which is disrupted by the human mutations. Targeted inactivation of Mib1 in mouse myocardium causes LVNC, a phenotype mimicked by inactivation of myocardial Jagged1 or endocardial Notch1. Myocardial Mib1 mutants show reduced ventricular Notch1 activity, expansion of compact myocardium to proliferative, immature trabeculae and abnormal expression of cardiac development and disease genes. These results implicate NOTCH signaling in LVNC and indicate that MIB1 mutations arrest chamber myocardium development, preventing trabecular maturation and compaction. | es |
dc.format | application/pdf | es |
dc.format.extent | 13 | es |
dc.language | eng | es |
dc.publisher | Nature Research | - |
dc.relation | For critical reading of the manuscript and S. Bartlett (CNIC) for English editing. This study was funded by grants SAF2010-17555, RD06/0014/0038 (RECAVA) and RD06/0010/1013 (TERCEL) from the Spanish Ministry of Economy and Competition (MINECO) to J.L.d.l.P. G.L. has a PhD fellowship from the MINECO (FPI Program, BES-2008-002904). The CNIC is supported by the MINECO and the Pro-CNIC Foundation. | es |
dc.rights | info:eu-repo/semantics/embargoedAccess | es |
dc.title | Mutations in the NOTCH pathway regulator MIB1 cause left ventricular noncompaction cardiomyopathy | es |
dc.type | info:eu-repo/semantics/article | es |
dc.embargo.terms | Si | - |
dc.identifier.doi | doi: 10.1038/nm.3046 | - |
Aparece en las colecciones: | Artículos: Ciencias Sociosanitarias |
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Luxan_2013_NOCTH-LVNC.pdf | 2,14 MB | Adobe PDF | Visualizar/Abrir Solicitar una copia |
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