{"id":73522,"date":"2018-03-09T23:18:26","date_gmt":"2018-03-09T23:18:26","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/bases-moleculares-de-la-acidemia-propionica-analisis-funcional-y-estructural-de-mutaciones-pcca-y-pccb\/"},"modified":"2018-03-09T23:18:26","modified_gmt":"2018-03-09T23:18:26","slug":"bases-moleculares-de-la-acidemia-propionica-analisis-funcional-y-estructural-de-mutaciones-pcca-y-pccb","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/ciencias-de-la-vida\/bases-moleculares-de-la-acidemia-propionica-analisis-funcional-y-estructural-de-mutaciones-pcca-y-pccb\/","title":{"rendered":"Bases moleculares de la acidemia propionica. analisis funcional y estructural de mutaciones pcca y pccb"},"content":{"rendered":"<h2>Tesis doctoral de <strong> Sonia Clavero Villarrubia <\/strong><\/h2>\n<p>El objetivo principal de este trabajo ha sido la caracterizaci\u00f3n de las bases moleculares de la acidemia propi\u00f3nica. Con este fin, hemos genotipado pacientes de acidemia propi\u00f3nica, identificando nuevas variantes al\u00e9licas asociadas con esta enfermedad. Asimismo, se ha realizado un an\u00e1lisis estructural y funcional de las diferentes variantes al\u00e9licas para conocer el mecanismo molecular responsable de su patog\u00e9nesis.  el an\u00e1lisis mutacional ha permitido caracterizar un total de veintitr\u00e9s variantes al\u00e9licas en los pacientes analizados. El an\u00e1lisis proteico en fibroblastos de los pacientes proporcion\u00f3 informaci\u00f3n adicional sobre el efecto fisiol\u00f3gico.  el efecto estructural y funcional de once variantes al\u00e9licas pcca ha sido analizado mediante modelado estructural y expresi\u00f3n en un sistema eucari\u00f3tico. la prote\u00edna pcca humana presenta dos dominios principales: el dominio biotina carboxilasa y el dominio de biotinilizaci\u00f3n, con mutaciones localizadas en ambos dominios. Debido a la homolog\u00eda en la secuencia polipept\u00eddica y en la reacci\u00f3n catalizada, la subunidad biotina carboxilasa y la subunidad portadora de carboxibiotina (bccp) de la acetil-coa carboxilasa de e.Coli se eligieron como modelos estructurales de los dominios pcca. El modelado molecular del dominio biotina carboxilasa de la prote\u00edna pcca demuestra que todos los residuos afectados por mutaciones pcca (con la excepci\u00f3n del residuo m229) se localizan en una misma regi\u00f3n de la prote\u00edna, opuesta al sitio activo, definiendo probablemente un dominio importante desde el punto de vista estructural y\/o funcional de la prote\u00edna. La mutaci\u00f3n m229k afecta a un residuo localizado en un bolsillo hidrof\u00f3bico cercano al sitio de uni\u00f3n a atp, por lo que cabe esperar que su efecto sea catal\u00edtico. En un sistema de expresi\u00f3n eucari\u00f3tico, todas las variantes al\u00e9licas pcca presentan una actividad enzim\u00e1tica relativa pcc nula, con la excepci\u00f3n de a75p, a138t e i164t<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Bases moleculares de la acidemia propionica. analisis funcional y estructural de mutaciones pcca y pccb<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Bases moleculares de la acidemia propionica. analisis funcional y estructural de mutaciones pcca y pccb <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Sonia Clavero Villarrubia <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Aut\u00f3noma de Madrid<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 13\/04\/2005<\/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>Lourdes Ruiz Desviat<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: fernando Valdivieso amate <\/li>\n<li>Santiago Rodriguez de cordoba (vocal)<\/li>\n<li>Juan Valcarcel juarez (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 Sonia Clavero Villarrubia El objetivo principal de este trabajo ha sido la caracterizaci\u00f3n de las bases moleculares [&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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