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Título: | Huntington's disease is a four-repeat tauopathy with tau nuclear rods |
Autor: | Fernández-Nogales, Marta CSIC ORCID; Cabrera, Jorge Rubén CSIC ORCID CVN; Santos-Galindo, María CSIC ORCID; Hoozemans, Jeroen J. M.; Ferrer, Isidro; Rozemuller, Annemieke J. M.; Hernández, Félix; Ávila, Jesús CSIC ORCID ; Lucas, José Javier CSIC ORCID | Fecha de publicación: | 14-jul-2014 | Citación: | Nature medicine 20: 881- 885 (2014) | Resumen: | An imbalance of tau isoforms containing either three or four microtubule-binding repeats causes frontotemporal dementia with parkinsonism linked to chromosome 17 (FTDP-17) in families with intronic mutations in the MAPT gene. Here we report equivalent imbalances at the mRNA and protein levels and increased total tau levels in the brains of subjects with Huntington's disease (HD) together with rod-like tau deposits along neuronal nuclei. These tau nuclear rods show an ordered filamentous ultrastructure and can be found filling the neuronal nuclear indentations previously reported in HD brains. Finally, alterations in serine/arginine-rich splicing factor-6 coincide with tau missplicing, and a role of tau in HD pathogenesis is evidenced by the attenuation of motor abnormalities of mutant HTT transgenic mice in tau knockout backgrounds. © 2014 Nature America, Inc. | Versión del editor: | http://dx.doi.org/10.1038/nm.3617 | URI: | http://hdl.handle.net/10261/252688 | DOI: | 10.1038/nm.3617 | Identificadores: | doi: 10.1038/nm.3617 issn: 1546-170X |
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ÁvilaJ_Huntington’sDisease.pdf | 1 MB | Adobe PDF | Visualizar/Abrir |
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