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Campo DC | Valor | Lengua/Idioma |
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dc.contributor.author | Jian, J. L. | - |
dc.contributor.author | Sarute, Nicolás | - |
dc.contributor.author | Lancaster, E. | - |
dc.contributor.author | Otkiran-Clare, G. | - |
dc.contributor.author | Medegan Fagla, B. | - |
dc.contributor.author | Ross, S. R. | - |
dc.contributor.author | Scherer, S. S. | - |
dc.date.accessioned | 2022-02-17T14:40:31Z | - |
dc.date.available | 2022-02-17T14:40:31Z | - |
dc.date.issued | 2020 | - |
dc.identifier.citation | Jian, J, Sarute, N, Lancaster, E, [y otros] "A recessive Trim2 mutation causes an axonal neuropathy in mice". Neurobiology of Disease. [en línea] 2020, 140: 104845. 10 h. DOI: 10.1016/j.nbd.2020.104845 | es |
dc.identifier.issn | 0969-9961 | - |
dc.identifier.uri | https://hdl.handle.net/20.500.12008/30869 | - |
dc.description.abstract | We analyzed Trim2A/A mice, generated by CRISPR-Cas9, which have a recessive, null mutation of Trim2. Trim2A/ A mice develop ataxia that is associated with a severe loss of cerebellar Purkinje cells and a peripheral neuro-pathy. Myelinated axons in the CNS, including those in the deep cerebellar nuclei, have focal enlargements that contain mitochondria and neurofilaments. In the PNS, there is a loss of myelinated axons, particularly in the most distal nerves. The pathologically affected neuronal populations – primary sensory and motor neurons as well as cerebellar Purkinje cells – express TRIM2, suggesting that loss of TRIM2 in these neurons results in cell autonomous effects on their axons. In contrast, these pathological findings were not found in a second strain of Trim2 mutant mice (Trim2C/C), which has a partial deletion in the RING domain that is needed for ubiquitin ligase activity. Both the Trim2A and the Trim2C alleles encode mutant TRIM2 proteins with reduced ubiquiti- nation activity. In sum, Trim2A/A mice are a genetically authentic animal model of a recessive axonal neuropathy of humans, apparently for a function that does not depend on the ubiquitin ligase activity. | en |
dc.format.extent | 10 h. | es |
dc.format.mimetype | application/pdf | es |
dc.language.iso | en | es |
dc.publisher | Elsevier | es |
dc.relation.ispartof | Neurobiology of Disease, 2020, 140: 104845 | es |
dc.rights | Las obras depositadas en el Repositorio se rigen por la Ordenanza de los Derechos de la Propiedad Intelectual de la Universidad de la República.(Res. Nº 91 de C.D.C. de 8/III/1994 – D.O. 7/IV/1994) y por la Ordenanza del Repositorio Abierto de la Universidad de la República (Res. Nº 16 de C.D.C. de 07/10/2014) | es |
dc.subject | Cerebellum | en |
dc.subject | Axonal spheroids | en |
dc.subject | Ataxia | en |
dc.subject | Axonal degeneration | en |
dc.subject | CMT | es |
dc.subject | Charcot-Marie-tooth disease | en |
dc.title | A recessive Trim2 mutation causes an axonal neuropathy in mice | en |
dc.type | Artículo | es |
dc.contributor.filiacion | Jian J. L. | - |
dc.contributor.filiacion | Sarute Nicolás, Universidad de la República (Uruguay). Facultad de Ciencias. Instituto de Biología. | - |
dc.contributor.filiacion | Lancaster E. | - |
dc.contributor.filiacion | Otkiran-Clare G. | - |
dc.contributor.filiacion | Medegan Fagla B. | - |
dc.contributor.filiacion | Ross S. R. | - |
dc.contributor.filiacion | Scherer S. S. | - |
dc.rights.licence | Licencia Creative Commons Atribución (CC - By 4.0) | es |
dc.identifier.doi | 10.1016/j.nbd.2020.104845 | - |
Aparece en las colecciones: | Publicaciones académicas y científicas - Facultad de Ciencias |
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10.1016j.nbd.2020.104845.pdf | 8,62 MB | Adobe PDF | Visualizar/Abrir |
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