{"id":56125,"date":"2018-03-09T22:43:51","date_gmt":"2018-03-09T22:43:51","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/caracterizacion-funcional-del-gen-responsable-de-la-epilepsia-autosomica-dominante-lateral-temporal-lgl1-en-modelos-animales-vertebrados\/"},"modified":"2018-03-09T22:43:51","modified_gmt":"2018-03-09T22:43:51","slug":"caracterizacion-funcional-del-gen-responsable-de-la-epilepsia-autosomica-dominante-lateral-temporal-lgl1-en-modelos-animales-vertebrados","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/genetica-humana\/caracterizacion-funcional-del-gen-responsable-de-la-epilepsia-autosomica-dominante-lateral-temporal-lgl1-en-modelos-animales-vertebrados\/","title":{"rendered":"Caracterizaci\u00f3n funcional del gen responsable de la epilepsia autos\u00f3mica dominante lateral temporal lgl1, en modelos animales vertebrados"},"content":{"rendered":"<h2>Tesis doctoral de <strong> Ana Gorostidi Pagola <\/strong><\/h2>\n<p>La epilepsia autos\u00f3mica dominante lateral temporal cursa con crisis parciales, poco frecuentes y con un aura auditivo y\/o visual. En este trabajo se describen dos mutaciones del gen lgl1 (leucine-rich glioma inactivated gene) como responsables de esta enfermedad en dos familias independientes, si bien se observan tambi\u00e9n familias sin mutaciones en lgl1.     el desarrollo de modelos animales es fundamental para una comprensi\u00f3n del funcionamiento in vitro de lgl1. Con este objetivo se ha generado un rat\u00f3n de sobrexpresi\u00f3n de una de las formas mutadas de lgl1. \u00e9ste ha resultado un modelo sin consecuencias cl\u00ednicas, peor v\u00e1lido para el estudio de la dominancia de las mutaciones en este gen. Por otra parte, todos los intentos fallidos de sobreexpresar la forma silvestre de lgl1 apuntan hacia una letalidad del mismo.     un segundo organismo vertebrado utilizado, el pez cebra, revela que la inhibici\u00f3n de lgl1 conlleva trastornos motores en este modelo.     por otra parte, la microinyecci\u00f3n conjunta de lgl1 con canales de potasio dependientes de voltaje realizada en huevos de rana no pudo demostrar ninguna interacci\u00f3n de lgl1 con estos canales in vitro. Estos datos corroboran la necesidad de otras subunidades para la interacci\u00f3n de lgl1 con el canal kv1.1 tal como ha sido descrito posteriormente.<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Caracterizaci\u00f3n funcional del gen responsable de la epilepsia autos\u00f3mica dominante lateral temporal lgl1, en modelos animales vertebrados<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Caracterizaci\u00f3n funcional del gen responsable de la epilepsia autos\u00f3mica dominante lateral temporal lgl1, en modelos animales vertebrados <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Ana Gorostidi Pagola <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Pa\u00eds vasco\/euskal herriko unibertsitatea<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 15\/12\/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: jos\u00e9 Zarranz Juan <\/li>\n<li>Mar\u00eda  teresa Gomez isla (vocal)<\/li>\n<li>Francisco Olucha bordonau (vocal)<\/li>\n<li>\u00e1lvaro Villarroel (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Ana Gorostidi Pagola La epilepsia autos\u00f3mica dominante lateral temporal cursa con crisis parciales, poco frecuentes y con [&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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