{"id":2780,"date":"1994-01-01T00:00:00","date_gmt":"1994-01-01T00:00:00","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/1994\/01\/01\/el-ciclo-de-la-urea-regulacion-nuevas-funciones-y-patogenesis-de-sus-alteraciones\/"},"modified":"1994-01-01T00:00:00","modified_gmt":"1994-01-01T00:00:00","slug":"el-ciclo-de-la-urea-regulacion-nuevas-funciones-y-patogenesis-de-sus-alteraciones","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/quimica\/el-ciclo-de-la-urea-regulacion-nuevas-funciones-y-patogenesis-de-sus-alteraciones\/","title":{"rendered":"El ciclo de la urea: regulacion, nuevas funciones y patogenesis de sus alteraciones."},"content":{"rendered":"<h2>Tesis doctoral de <strong>  Garcia Perez Miguel Angel <\/strong><\/h2>\n<p>Se investiga: a) el mecanismo de la aciduria orotica inducida por aminoacidos; b) la sintesis y degradacion del n-acetil-l-glutamato (ag) cerebral; y c) la mutacion causante del deficit de ornitina transcarbamilasa (otc) en dos familias con esta enfermedad. Demostramos, a) que el orotato excretado se produce en el higado por acumulacion de carbamil fosfato (cp) sintetizado por la carbamil fosfato sintetasa mitocondrial; esta acumulacion se debe a sintesis aumentada de cp, y a utilizacion limitada del cp por la otc, debida a bajo nivel de ornitina y a inhibicion de la otc por aminoacidos: b) el ag y el n-acetil-l-aspartato cerebrales se sintetizan por el mismo enzima, la l-aspartato-n-acetiltransferasa. El ag se degrada en cerebro por una aminoacilasa tipo i.  respecto a c) se demuestra en dos familias estudiadas el reemplazo por adenina de la guanina terminal del exon 4 del gen de la otc. Ello resulta en baja eficacia de procesado del transcrito, con disminucion del 95% en el nivel de ornitina transcarbamilasa madura, de propiedades normales, con la mutacion neutra arg129-his. Esta mutacion, no encontrada antes en el hombre, se da en la cepa spf-ash de ratones deficientes en otc.<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>El ciclo de la urea: regulacion, nuevas funciones y patogenesis de sus alteraciones.<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 El ciclo de la urea: regulacion, nuevas funciones y patogenesis de sus alteraciones. <\/li>\n<li><strong>Autor:<\/strong>\u00a0  Garcia Perez Miguel Angel <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Universitat de val\u00e9ncia (estudi general)<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 01\/01\/1994<\/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>Vicente Rubio Zamora<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: Santiago Grisolia Garcia <\/li>\n<li>Pablo Sanjurjo Crespo (vocal)<\/li>\n<li>F\u00e9lix Prieto Garc\u00eda (vocal)<\/li>\n<li>Angel Reglero Chillon (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Garcia Perez Miguel Angel Se investiga: a) el mecanismo de la aciduria orotica inducida por aminoacidos; b) [&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":[212,160,35,2820,257,17],"tags":[4426,11809,11805,11808,11807,11806],"class_list":["post-2780","post","type-post","status-publish","format-standard","hentry","category-biologia-humana","category-bioquimica","category-ciencias-de-la-vida","category-genetica-humana","category-metabolismo-intermediario","category-quimica","tag-angel-reglero-chillon","tag-felix-prieto-garcia","tag-garcia-perez-miguel-angel","tag-pablo-sanjurjo-crespo","tag-santiago-grisolia-garcia","tag-vicente-rubio-zamora"],"_links":{"self":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/2780","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=2780"}],"version-history":[{"count":0,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/2780\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/media?parent=2780"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/categories?post=2780"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/tags?post=2780"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}