{"id":55481,"date":"2018-03-09T22:43:12","date_gmt":"2018-03-09T22:43:12","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/caracterizacion-funcional-de-lgi1-epitempina-mediante-modelos-celulares\/"},"modified":"2018-03-09T22:43:12","modified_gmt":"2018-03-09T22:43:12","slug":"caracterizacion-funcional-de-lgi1-epitempina-mediante-modelos-celulares","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/bioquimica-molecular\/caracterizacion-funcional-de-lgi1-epitempina-mediante-modelos-celulares\/","title":{"rendered":"\u00abcaracterizaci\u00f3n funcional de lgi1\/epitempina mediante modelos celulares\u00bb"},"content":{"rendered":"<h2>Tesis doctoral de <strong> Mar\u00eda Salom\u00e9 Sirerol Piquer <\/strong><\/h2>\n<p>La epilepsia lateral autos\u00f3mica dominante (adl te) es un tipo de epilepsia parcial que se origina en la regi\u00f3n lateral del l\u00f3bulo temporal.Su caracter\u00edstica m\u00e1s significativa es la aparici\u00f3n de auras ac\u00fasticas. Las crisis suelen aparecer durante las primeras horas de sue\u00f1o y frecuentemente presentan una generalizaci6n secundaria. La edad de inicio es bastante variable, aunque suele ser juvenil.  el cuadro clinico de la enfermedad fue descrito inicialmente por el grupo el grupo de ottman en 1995, que asociaron la predisposici\u00f3n a padecer la enfermedad al brazo largo del cromosoma 10, delimitando un haplotipo minimo de 10 cm posteriormente el grupo de poza replic\u00f3 estos resultados delimitando un haplotipo minimo de 15 cm, solpando en 3 cm con el descrito por ottman. En 2002, mediante secuenciaci\u00f3n de los genes localizados en esta regi\u00f3n se encontraron mutaciones en  lgi1 , que identican este gen como el responsable de la epilepsia lateral autos\u00f3mica dominante. Lgi1 codifica para una proteina de funci\u00f3n desconocida, dicha proteina no guardaba ninguna relaci\u00f3n o parecido con receptores de neurtransmisores, subunidades de canales i6nicos o proteinas implicadas en la transmisi\u00f3n del impulso nervioso pudiendo estar implicada en un mecanismo molecular desconocido hasta la fecha, cuyas lateraciones produjeran este tipo de epilepsia. el objetivo general que persigue la tesis consiste en averiguar c\u00f3mo mutaciones en lgi1 causan este tipo de epilpesia. Para ello se desarrollaron herramientas biol6gicas que permitieran el estudio de la proteina y se demuestra que lgi1 es una proteina de secreci6n, descartando que la secreci\u00f3n de esta porteina sea un artefacto debido al modelo de sobreexpresi\u00f3n emplado, la l\u00ednea celular transfectada o la etiqueta fusionada a la proteina para su identificaci\u00f3n western blot de esta manera reforzando la hip6tesis de que la secreci6n de lgi1 es un fen6meno fisiol6gico que ocure \u00abin vivo\u00bb en el trabajo se estudian cararcterist<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>\u00abcaracterizaci\u00f3n funcional de lgi1\/epitempina mediante modelos celulares\u00bb<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 \u00abcaracterizaci\u00f3n funcional de lgi1\/epitempina mediante modelos celulares\u00bb <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Mar\u00eda Salom\u00e9 Sirerol Piquer <\/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\/11\/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:  N\u00e1cher rosell\u00f3 Juan  salvador <\/li>\n<li>roberto Erwin knecht (vocal)<\/li>\n<li> L\u00f3pez de munain adolfo (vocal)<\/li>\n<li>Alberto Marina moreno (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Mar\u00eda Salom\u00e9 Sirerol Piquer La epilepsia lateral autos\u00f3mica dominante (adl te) es un tipo de epilepsia parcial [&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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