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The epilepsy gene LGI1 encodes a secreted glycoprotein that binds to the cell surface

AutorSirerol-Piquer, María Salomé ; Ayerdi Izquierdo, Ana; Morante Redolat, José Manuel; Herranz-Pérez, Vicente; Favell, Kristy; Barker, Philip A.; Pérez-Tur, Jordi
Palabras claveLGI1
Epilepsy
Fecha de publicación26-oct-2006
EditorOxford University Press
CitaciónHum Mol Genet 15 (23): 3436-3445
ResumenAutosomal 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.
DescripciónThis 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/15/23/3436
Versión del editorhttp://dx.doi.org/10.1093/hmg/ddl421
URIhttp://hdl.handle.net/10261/8967
DOI10.1093/hmg/ddl421
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