{"id":29793,"date":"2018-03-09T09:23:05","date_gmt":"2018-03-09T09:23:05","guid":{"rendered":""},"modified":"2018-03-09T09:23:05","modified_gmt":"2018-03-09T09:23:05","slug":"analisis-molecular-y-funcional-de-las-mutaciones-en-el-gen-hmgcl-de-diez-pacientes-con-aciduria-3-hidroxi3-metilglutarica-propuesta-de-un-modelo-estructural-tim-barrel-betla-alpha8-para-la-protein","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/internacional-de-catalunya\/analisis-molecular-y-funcional-de-las-mutaciones-en-el-gen-hmgcl-de-diez-pacientes-con-aciduria-3-hidroxi3-metilglutarica-propuesta-de-un-modelo-estructural-tim-barrel-betla-alpha8-para-la-protein\/","title":{"rendered":"\u00aban\u00e1lisis molecular y funcional de las mutaciones en el gen hmgcl de diez pacientes con aciduria 3-hidroxi3-metilglut\u00e1rica. propuesta de un modelo estructural tim barrel (betla alpha)8 para la proteina hmg-coa liasa\u00bb."},"content":{"rendered":"<h2>Tesis doctoral de <strong> Cecilia Mir Font <\/strong><\/h2>\n<p>Esta tesis destaca dos aspectos, por un lado describe seis nuevas mutaciones causantes de la deficiencia de hmg-coa liasa. La baja frecuencia en el diagn\u00f3stico de esta enfermedad hace que sean pocos los casos estudiados a nivel molecular, este trabajo aporta una informaci\u00f3n importante y necesaria para una mejor comprensi\u00f3n del proceso. Por otro lado, la tesis profundiza a trav\u00e9s de las mutaciones en el conocimiento funcional de la enzima hmg-coa liasa. Es muy meritorio, al presentar por primera vez un modelo estructural de esta enzima, abalado por su publicaci\u00f3n en una revista del prestigio de journal of biological chemistry. Plantea como objetivos los siguientes:  &#8211; identificaci\u00f3n de las mutaciones responsables de la aciduria 3-hidroxi3-metilglut\u00e1rica diagnosticada en 10 pacientes de diferentes nacionalidades.  -estudio a nivel molecular de los efectos de tales mutaciones en la actividad de la enzima hmg-coa liasa.  -generaci\u00f3n de un modelo estructural para la enzima que permita el estudio de las mutaciones missense descritas y su efecto en la estructura de la misma.<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>\u00aban\u00e1lisis molecular y funcional de las mutaciones en el gen hmgcl de diez pacientes con aciduria 3-hidroxi3-metilglut\u00e1rica. propuesta de un modelo estructural tim barrel (betla alpha)8 para la proteina hmg-coa liasa\u00bb.<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 \u00aban\u00e1lisis molecular y funcional de las mutaciones en el gen hmgcl de diez pacientes con aciduria 3-hidroxi3-metilglut\u00e1rica. propuesta de un modelo estructural tim barrel (betla alpha)8 para la proteina hmg-coa liasa\u00bb. <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Cecilia Mir Font <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Internacional de catalunya<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 23\/04\/2004<\/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>N\u00faria Casals Farr\u00e9<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: fausto Garc\u00eda <\/li>\n<li>paulino Gomez puertas (vocal)<\/li>\n<li>Juan Pie juste (vocal)<\/li>\n<li> Serra beltran miquel angel (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Cecilia Mir Font Esta tesis destaca dos aspectos, por un lado describe seis nuevas mutaciones causantes 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 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