{"id":78509,"date":"2006-02-02T00:00:00","date_gmt":"2006-02-02T00:00:00","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/estudio-del-gen-pomt1-y-su-implicacion-en-enfermedades-neuromusculares-generacion-de-animales-modelo-en-el-raton\/"},"modified":"2006-02-02T00:00:00","modified_gmt":"2006-02-02T00:00:00","slug":"estudio-del-gen-pomt1-y-su-implicacion-en-enfermedades-neuromusculares-generacion-de-animales-modelo-en-el-raton","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/ciencias-medicas\/estudio-del-gen-pomt1-y-su-implicacion-en-enfermedades-neuromusculares-generacion-de-animales-modelo-en-el-raton\/","title":{"rendered":"Estudio del gen pomt1 y su implicaci\u00f3n en enfermedades neuromusculares. generaci\u00f3n de animales modelo en el rat\u00f3n."},"content":{"rendered":"<h2>Tesis doctoral de <strong> Bel\u00e9n Prados Pinto <\/strong><\/h2>\n<p>La o-manosilacion es una modificaci\u00f3n post-traduccional importente en eucariotas. el gen que codifica la prote\u00edna o-manosil transferasa 1 en humanos es pomt1. el alfa-distroglicano, componente del complejo glicoproteico de distrofina en m\u00fasculo y neuronas, es o-manosilado por pomt1. Existen varias enfermedades neuromusculares cuyos pacientes presentan d\u00e9ficit en la glicosilaci\u00f3n del alfa-distroglicano. El s\u00edndrome de walker-warburg (wws) es una distrofia muscular cong\u00e9nita asociada a malformaciones oculares y cerebrales graves, causada por mutaciones en prote\u00ednas implicadas en la glicosilaci\u00f3n del alfa-distroglicano, como pomt1. Durante la embriog\u00e9nesis del rat\u00f3n, pomt1 se expresa en los tejidos m\u00e1s afectados en pacientes con wws. En el rat\u00f3n adulto, pomt1 se localiza en el r.E. De c\u00e9lulas musculares y en el acrosoma de las c\u00e9lulas germinales masculinas. En este estudio, hemos generado un animal knockout para estudiar la funci\u00f3n de la o-manosilaci\u00f3n en el rat\u00f3n, que ha resultado ser letal embrionario debido a defectos en la formaci\u00f3n de la membrana de reichert . Para evitar la letalidad embrionaria, hemos producido quimeras mediante el uso de c\u00e9lulas es pomt1-\/-, y estamos generando un rat\u00f3n knockout condicional basado en el sistema cre-loxp, que permita inactivar el gen pomt1 espacio-temporalmente mediante el uso de promotores iducibles o espec\u00edficos de tejido.<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Estudio del gen pomt1 y su implicaci\u00f3n en enfermedades neuromusculares. generaci\u00f3n de animales modelo en el rat\u00f3n.<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Estudio del gen pomt1 y su implicaci\u00f3n en enfermedades neuromusculares. generaci\u00f3n de animales modelo en el rat\u00f3n. <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Bel\u00e9n Prados Pinto <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Aut\u00f3noma de Madrid<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 02\/02\/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>Jes\u00fas Cruces Pinto<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: rafael Garesse alarc\u00f3n <\/li>\n<li>concepci\u00f3n Hern\u00e1ndez chico (vocal)<\/li>\n<li>Miguel Manzanares fourcade (vocal)<\/li>\n<li>Antonio Coloma jerez (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Bel\u00e9n Prados Pinto La o-manosilacion es una modificaci\u00f3n post-traduccional importente en eucariotas. el gen que codifica la [&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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