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dc.contributor.authorSirerol-Piquer, María Salomé-
dc.contributor.authorAyerdi Izquierdo, Ana-
dc.contributor.authorMorante Redolat, José Manuel-
dc.contributor.authorHerranz-Pérez, Vicente-
dc.contributor.authorFavell, Kristy-
dc.contributor.authorBarker, Philip A.-
dc.contributor.authorPérez-Tur, Jordi-
dc.date.accessioned2008-12-03T12:24:19Z-
dc.date.available2008-12-03T12:24:19Z-
dc.date.issued2006-10-26-
dc.identifier.citationHum Mol Genet 15 (23): 3436-3445en_US
dc.identifier.urihttp://hdl.handle.net/10261/8967-
dc.descriptionThis is a pre-copy-editing, author-produced PDF of an article accepted for publication in Human Molecular Genetics following peer review. The definitive publisher-authenticated version Human Molecular Genetics 2006 15(23):3436-3445. is available online at: http://hmg.oxfordjournals.org/cgi/content/full/15/23/3436en_US
dc.description.abstractAutosomal dominant lateral temporal epilepsy (ADTLE) is a partial epilepsy caused by mutations in LGI1, a multidomain protein of unknown function. To begin to understand the biological function of LGI1, we have determined its pattern of glycosylation, subcellular expression and capacity for secretion. LGI1 is expressed as two different isoforms in the brain, and we show that the long isoform is a secreted protein, whereas the short isoform is retained in an intracellular pool. ADLTE-related mutants of the long form are defective for secretion and are retained in the endoplasmic reticulum and Golgi complex. Finally, we show that normal secreted LGI1 specifically binds to the cell surface of differentiated PC12 cells. We propose that LGI1 is a secreted factor important for neuronal development and that ADTLE is a disease that results from the loss of regulation in the protein available either extracellular or intracellularly.en_US
dc.description.sponsorshipThis work was supported by grants from the Ministerio de Educación y Ciencia (SAF2002-00060 and SAF2005-00136) to J.P.T. and from the Canadian Institute of Heath Research (PPP147918) to P.A.B. S.S.P. is funded by a fellowship of the Generalitat Valenciana (CTBPRB/2002/35), J.M.M.R. is funded by an FPU and a Bancaixa fellowship. Support from the Ministerio de Educación y Ciencia (BES-2003-0243, to A.A.I.) and from the Ministerio de Sanidad y Consumo (BF03/00182, to V.H.P.) is also acknowledged. K.F. is funded by a Canadian NSERC award.en_US
dc.format.extent913450 bytes-
dc.format.mimetypeapplication/pdf-
dc.language.isoengen_US
dc.publisherOxford University Pressen_US
dc.rightsopenAccessen_US
dc.subjectLGI1en_US
dc.subjectEpilepsyen_US
dc.titleThe epilepsy gene LGI1 encodes a secreted glycoprotein that binds to the cell surfaceen_US
dc.typeartículoen_US
dc.identifier.doihttp://dx.doi.org/10.1093/hmg/ddl421-
dc.description.peerreviewedPeer revieweden_US
dc.relation.publisherversionhttp://dx.doi.org/10.1093/hmg/ddl421en_US
dc.identifier.pmid17067999-
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