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http://hdl.handle.net/10261/153507
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Campo DC | Valor | Lengua/Idioma |
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dc.contributor.author | Tristán Clavijo, E. | es_ES |
dc.contributor.author | Scholl, Francisco G. | es_ES |
dc.contributor.author | Macaya Ruiz, A. | es_ES |
dc.contributor.author | Iglesias Escalera, G. | es_ES |
dc.contributor.author | Rojas Mendoza, Ana M. | es_ES |
dc.contributor.author | Lucas, Miguel | es_ES |
dc.contributor.author | Castellano, Antonio | es_ES |
dc.contributor.author | Martínez Mir, Amalia | es_ES |
dc.date.accessioned | 2017-07-25T12:21:06Z | - |
dc.date.available | 2017-07-25T12:21:06Z | - |
dc.date.issued | 2016-11 | - |
dc.identifier.citation | Movement Disorders 31(11): 1743-1748 (2016) | es_ES |
dc.identifier.issn | 0885-3185 | - |
dc.identifier.uri | http://hdl.handle.net/10261/153507 | - |
dc.description.abstract | [Background] Episodic ataxia type 1 is a rare autosomal dominant neurological disorder caused by mutations in the KCNA1 gene that encodes the α subunit of voltage-gated potassium channel Kv1.1. The functional consequences of identified mutations on channel function do not fully correlate with the clinical phenotype of patients. | es_ES |
dc.description.abstract | [Methods] A clinical and genetic study was performed in a family with 5 patients with episodic ataxia type 1, with concurrent epilepsy in 1 of them. Protein expression, modeling, and electrophysiological analyses were performed to study Kv1.1 function. | es_ES |
dc.description.abstract | [Results] Whole-genome linkage and candidate gene analyses revealed the novel heterozygous mutation p.Arg324Thr in the KCNA1 gene. The encoded mutant Kv1.1 channel displays reduced currents and altered activation and inactivation. | es_ES |
dc.description.abstract | [Conclusions] Taken together, we provide genetic and functional evidence that mutation p.Arg324Thr in the KCNA1 gene is pathogenic and results in episodic ataxia type 1 through a dominant-negative effect. © 2016 International Parkinson and Movement Disorder Society | es_ES |
dc.description.sponsorship | This study was supported by grants from the Ministerio de Educacion y Ciencia, Spain (SAF2005-04783, SAF2006-27500-E, and SAF2010-17694) and Consejeria de Innovacion, Ciencia y Empresa, Junta de Andalucia, Spain (P07-CVI-02790 and P11-CTS-7045). | es_ES |
dc.language.iso | eng | es_ES |
dc.publisher | John Wiley & Sons | es_ES |
dc.rights | closedAccess | es_ES |
dc.title | Dominant-negative mutation p.Arg324Thr in KCNA1 impairs Kv1.1 channel function in episodic ataxia | es_ES |
dc.type | artículo | es_ES |
dc.identifier.doi | 10.1002/mds.26737 | - |
dc.description.peerreviewed | Peer reviewed | es_ES |
dc.relation.publisherversion | http://doi.org/10.1002/mds.26737 | es_ES |
dc.identifier.e-issn | 1531-8257 | - |
dc.contributor.funder | Ministerio de Educación y Ciencia (España) | es_ES |
dc.contributor.funder | Junta de Andalucía | es_ES |
dc.relation.csic | Sí | es_ES |
oprm.item.hasRevision | no ko 0 false | * |
dc.identifier.funder | http://dx.doi.org/10.13039/501100011011 | es_ES |
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 | - |
item.languageiso639-1 | en | - |
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