{"id":41683,"date":"1999-01-01T00:00:00","date_gmt":"1999-01-01T00:00:00","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/bases-moleculares-de-la-acidemia-propionica-caracterizacion-de-la-deficiencia-en-el-gen-pcca\/"},"modified":"1999-01-01T00:00:00","modified_gmt":"1999-01-01T00:00:00","slug":"bases-moleculares-de-la-acidemia-propionica-caracterizacion-de-la-deficiencia-en-el-gen-pcca","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/quimica\/bases-moleculares-de-la-acidemia-propionica-caracterizacion-de-la-deficiencia-en-el-gen-pcca\/","title":{"rendered":"Bases moleculares de la acidemia propionica: caracterizacion de la deficiencia en el gen pcca."},"content":{"rendered":"<h2>Tesis doctoral de <strong> Eva M. Richard Rodriguez <\/strong><\/h2>\n<p>En dicho trabajo se ha abordado el estudio de las bases moleculares de la ap, en primer lugar caracterizando los niveles de mrna y de la prote\u00edna inmunorreactiva a cada una de las dos subunidades a y b del enzima pcc. este estudio ha permitido identificar el gen responsable de la deficiencia, completando la clasificaci\u00f3n de los pacientes en los dos grupos de complementaci\u00f3n gen\u00e9tica, as\u00ed como correlacionar los datos obtenidos con los resultados del an\u00e1lisis molecular. Una vez clasificados los pacientes, el segundo objetivo ha sido el an\u00e1lisis molecular del gen pcca, identific\u00e1ndose 10 mutaicones diferentes 8 de ellas nuevas. Asimismo, se han analizado mediante mutantes de deleci\u00f3n los dominios de la subunidad a implicados en la interacci\u00f3n heterom\u00e9rica con la subunidad b, concluyendo que los 71 amino\u00e1cidos carboxiterminales de la subunidad a intervienen en dicha interacci\u00f3n.  otro aspecto fundamental del trabajo ha sido la optimizaci\u00f3n de un sistema de expresi\u00f3n in vitro de la subunidad a, analizando su s\u00edntesis, importe mitocondrial y estabilidad.  dicho sistema ha servido para estudiar el efecto de la mutaci\u00f3n m348k, la m\u00e1s frecuente en los pacientes estudiados, concluyendo que la prote\u00edna mutante aunque se sintetiza, se importa y procesa correctamente, es altamente inestable en el interior de la mitocondria..<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Bases moleculares de la acidemia propionica: caracterizacion de la deficiencia en el gen pcca.<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Bases moleculares de la acidemia propionica: caracterizacion de la deficiencia en el gen pcca. <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Eva M. Richard Rodriguez <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Aut\u00f3noma de Madrid<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 01\/01\/1999<\/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>Magdalena Ugarte Perez<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: Jos\u00e9 Mar\u00eda (secretario) Requena rolan\u00eda <\/li>\n<li>xavier Estivill pallej? (vocal)<\/li>\n<li> Pe\u00f1alva soto Miguel angel (vocal)<\/li>\n<li>  (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Eva M. Richard Rodriguez En dicho trabajo se ha abordado el estudio de las bases moleculares de [&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":[160,115,3178,17],"tags":[105406,76431,15233,13505,29141],"class_list":["post-41683","post","type-post","status-publish","format-standard","hentry","category-bioquimica","category-bioquimica-molecular","category-proteinas","category-quimica","tag-eva-m-richard-rodriguez","tag-jose-maria-secretario-requena-rolania","tag-magdalena-ugarte-perez","tag-penalva-soto-miguel-angel","tag-xavier-estivill-pallej"],"_links":{"self":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/41683","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=41683"}],"version-history":[{"count":0,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/41683\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/media?parent=41683"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/categories?post=41683"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/tags?post=41683"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}