{"id":54562,"date":"2018-03-09T22:42:16","date_gmt":"2018-03-09T22:42:16","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/caracterizacion-genetica-y-funcional-del-gen-causante-de-la-epilepsia-lateral-temporal-autosomica-dominante\/"},"modified":"2018-03-09T22:42:16","modified_gmt":"2018-03-09T22:42:16","slug":"caracterizacion-genetica-y-funcional-del-gen-causante-de-la-epilepsia-lateral-temporal-autosomica-dominante","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/ciencias-de-la-vida\/caracterizacion-genetica-y-funcional-del-gen-causante-de-la-epilepsia-lateral-temporal-autosomica-dominante\/","title":{"rendered":"\u00abcaracterizaci\u00f3n gen\u00e9tica y funcional del gen causante de la epilepsia lateral temporal autos\u00f3mica dominante\u00bb"},"content":{"rendered":"<h2>Tesis doctoral de <strong>  Morante Redolat Jos\u00e9 Manuel <\/strong><\/h2>\n<p>En este trabajo, mediante una aproximaci\u00f3n de gen candidato en la regi\u00f3n cr\u00edtica del cromosoma 10 previamente descrita, se identifica a lgi1 como el gen causante de la epilepsia lateral temporal autos\u00f3mica dominante, un tipo de epilepsia caracterizado por crisis parciales originadas en la regi\u00f3n lateral del l\u00f3bulo temporal, con frecuentes s\u00edntomas auditivos y generalizaci\u00f3n secundaria. Para ampliar la escasa informaci\u00f3n disponible en aquel momento sobre la biolog\u00eda del gen y a fin de obtener datos de su implicaci\u00f3n en la patolog\u00eda epil\u00e9ptica se analiza su estructura gen\u00f3mica describiendo una variante de procesamiento alternativo, se generan anticuerpos policlonales con los que se caracteriza el patr\u00f3n de expresi\u00f3n en cerebro de rat\u00f3n mediante inmunohistoqu\u00edmica e inmunocitoqu\u00edmica y se lieva a cabo un rastreo mediante la t\u00e9cnica del doble hibrido en levadura para identificar mol\u00e9culas con capacidad de interaccionar f\u00edsicamente con lgi1. De los resultados obtenidos en el doble hibrido se formula una hip\u00f3tesis que relaciona a lgi1 con la ruta de se\u00f1alizaci\u00f3n mediada por el triple receptor p75ntr, ngr\/lingo1. trasladando estos resultados a un modelo de l\u00edneas celulares de mam\u00edfero se demuestra la interaccion f\u00edsica de lgi1 con los tres miembros del receptor y su capacidad de actuar como ligando extracelular de este complejo. Finalmente se demuestra el efecto funcional de esta mol\u00e9cula sobre la ruta de inhibici\u00f3n del crecimiento de neuritas provocada por los inhibidores presentes en la mielina que media el receptor p75ntr\/ngr\/lingo1, de modo que la presencia de lgi1 antagoniza el efecto inhibitorio permitiendo el crecimiento de neuritas y evitando el colapso del cono de crecimiento axonal de cultivos primarios de neuronas en presencia de mielina. Con todos estos datos se propone un papel de lgi1 en los procesos de plasticidad sin\u00e1ptica que ocurren en el sistema nervioso central y que requieren de una atenuaci\u00f3n l<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>\u00abcaracterizaci\u00f3n gen\u00e9tica y funcional del gen causante de la epilepsia lateral temporal autos\u00f3mica dominante\u00bb<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 \u00abcaracterizaci\u00f3n gen\u00e9tica y funcional del gen causante de la epilepsia lateral temporal autos\u00f3mica dominante\u00bb <\/li>\n<li><strong>Autor:<\/strong>\u00a0  Morante Redolat Jos\u00e9 Manuel <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Universitat de val\u00e9ncia (estudi general)<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 15\/09\/2006<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n<h3>Direcci\u00f3n y tribunal<\/h3>\n<ul>\n<li><strong>Director de la tesis<\/strong>\n<ul>\n<li>Jordi Perez Tur<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: Santiago Rodriguez de cordoba <\/li>\n<li>isabel Fari\u00f1as g\u00f3mez (vocal)<\/li>\n<li>domingo Barettino fraile (vocal)<\/li>\n<li> L\u00f3pez de munain adolfo (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Morante Redolat Jos\u00e9 Manuel En este trabajo, mediante una aproximaci\u00f3n de gen candidato en la regi\u00f3n cr\u00edtica [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"site-sidebar-layout":"default","site-content-layout":"","ast-site-content-layout":"","site-content-style":"default","site-sidebar-style":"default","ast-global-header-display":"","ast-banner-title-visibility":"","ast-main-header-display":"","ast-hfb-above-header-display":"","ast-hfb-below-header-display":"","ast-hfb-mobile-header-display":"","site-post-title":"","ast-breadcrumbs-content":"","ast-featured-img":"","footer-sml-layout":"","theme-transparent-header-meta":"","adv-header-id-meta":"","stick-header-meta":"","header-above-stick-meta":"","header-main-stick-meta":"","header-below-stick-meta":"","astra-migrate-meta-layouts":"default","ast-page-background-enabled":"default","ast-page-background-meta":{"desktop":{"background-color":"var(--ast-global-color-4)","background-image":"","background-repeat":"repeat","background-position":"center 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