{"id":97007,"date":"2009-04-11T00:00:00","date_gmt":"2009-04-11T00:00:00","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/caracterizacion-molecular-y-terapia-antisentido-en-aciduria-metilmalonica-aislada\/"},"modified":"2009-04-11T00:00:00","modified_gmt":"2009-04-11T00:00:00","slug":"caracterizacion-molecular-y-terapia-antisentido-en-aciduria-metilmalonica-aislada","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/caracterizacion-molecular-y-terapia-antisentido-en-aciduria-metilmalonica-aislada\/","title":{"rendered":"Caracterizacion molecular y terapia antisentido en aciduria metilmalonica aislada."},"content":{"rendered":"<h2>Tesis doctoral de <strong> Ana Rincon Vela <\/strong><\/h2>\n<p>1. Introduci\u00f3n 1.1 defectos en el metabolismo celular de cobalaminas. 1.1.1 aciduria metilmal\u00f3nica aislada. 1.1.2 homocistinuria. 1.2 an\u00e1lisis funcional de variantes al\u00e9licas. Nuevas aproximaciones terap\u00e9uticas. 1.3 relaci\u00f3n genotipo-fenotipo. 2. Objetivos 3. Materiales y m\u00e9todos 3.1 materiales. 3.1.1 reactivos y aparatos. 3.1.2 material biol\u00f3gico: pacientes, l\u00edneas celulares establecidas y vectores plasm\u00eddicos. 3.2 m\u00e9todos 3.2.1 aislamiento de \u00e1cidos nucleicos 3.2.2 t\u00e9cnicas de amplificaci\u00f3n de \u00e1cidos nucleicos 3.2.3 cultivo celular 3.2.4 cuantificaci\u00f3n de mrna mediante qrt-pcr 3.2.5 construcci\u00f3n de minigenes y an\u00e1lisis in vitro de splicing 3.2.6 transfecci\u00f3n de oligonucle\u00f3tidos antisentido tipo morfolinos y vivo- morfolinos en fibroblastos. 3.2.7 an\u00e1lisis por microarray 3.2.8 medida del stress celular 3.2.9 soporte inform\u00e1tico 13 4. Resultados 4.1 an\u00e1lisis gen\u00e9tico en pacientes con aciduria metilmal\u00f3nica aislada tipo mut, cblb y cbla y combinada con homocistinuria tipo cble. 4.1.1 an\u00e1lisis de mutaciones en el gen mmaa. 4.1.2 an\u00e1lisis de mutaciones en el gen mmab. 4.1.3 an\u00e1lisis de mutaciones en el gen mut. 4.1.4 an\u00e1lisis de mutaciones en el gen mtrr. 4.2 estudios funcionales y estructurales de mutaciones identificadas en pacientes con aciduria metilmal\u00f3nica aislada. 4.2.1 an\u00e1lisis del efecto de las mutaciones en la estabilidad del mrna. 4.2.2 estudios funcionales de mutaciones localizadas en secuencias conservadas de splicing. 4.2.2.1 estudio de la mutaci\u00f3n c.291-1g>a (paciente 13469) 4.2.2.2 estudio de la mutaci\u00f3n c.584g>a (pacientes 19235 y 19244) 4.2.2.3 estudio de la mutaci\u00f3n c.562g>c (paciente 21431) 4.2.3 estudios funcionales de mutaciones localizadas en el interior de intrones. 4.3 terapias moduladoras de mutaciones de splicing en aciduria metilmal\u00f3nica. 4.3.1 restauraci\u00f3n del splicing correcto utilizando oligonucle\u00f3tidos antisentido. 4.3.2 restauraci\u00f3n de la actividad enzim\u00e1tica mcm en l\u00edneas de fibroblastos de pacientes. 4.3.3 an\u00e1lisis del efecto de transfecci\u00f3n sobre el stress celular.<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Caracterizacion molecular y terapia antisentido en aciduria metilmalonica aislada.<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Caracterizacion molecular y terapia antisentido en aciduria metilmalonica aislada. <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Ana Rincon Vela <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Aut\u00f3noma de Madrid<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 04\/11\/2009<\/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>Belen Perez Gonzalez<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: fernando Valdivieso amate <\/li>\n<li>M\u00aa luz Couce pico (vocal)<\/li>\n<li>mercedes Martinez-pardo casanova (vocal)<\/li>\n<li>Jos\u00e9 Mar\u00eda Medina jimenez (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Ana Rincon Vela 1. Introduci\u00f3n 1.1 defectos en el metabolismo celular de cobalaminas. 1.1.1 aciduria metilmal\u00f3nica aislada. [&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 center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""},"tablet":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""},"mobile":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""}},"ast-content-background-meta":{"desktop":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""},"tablet":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""},"mobile":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""}},"footnotes":""},"categories":[1],"tags":[198954,15232,14429,7301,31661,198955],"class_list":["post-97007","post","type-post","status-publish","format-standard","hentry","category-sin-categoria","tag-ana-rincon-vela","tag-belen-perez-gonzalez","tag-fernando-valdivieso-amate","tag-jose-maria-medina-jimenez","tag-mercedes-Martinez-pardo-casanova","tag-ma-luz-couce-pico"],"_links":{"self":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/97007","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/comments?post=97007"}],"version-history":[{"count":0,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/97007\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/media?parent=97007"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/categories?post=97007"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/tags?post=97007"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}