{"id":55963,"date":"2006-12-12T00:00:00","date_gmt":"2006-12-12T00:00:00","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/biogenesis-del-transportador-de-cistinuria-rbat-b0-at\/"},"modified":"2006-12-12T00:00:00","modified_gmt":"2006-12-12T00:00:00","slug":"biogenesis-del-transportador-de-cistinuria-rbat-b0-at","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/bioquimica-molecular\/biogenesis-del-transportador-de-cistinuria-rbat-b0-at\/","title":{"rendered":"Biog\u00e9nesis del transportador de cistinuria rbat\/b0,+ at"},"content":{"rendered":"<h2>Tesis doctoral de <strong> Paola Chiara Bartoccioni <\/strong><\/h2>\n<p>Los transportadores de amino\u00e1cidos han sido principalmente estudiados en el contexto de la reabsorci\u00f3n de amino\u00e1cidos.  en este sentido b 0+ at y y+lat1 han sido implicados en las amonioacidurias humanas cistinuria y lpi (iysinuric protein intolernace) respectivamente (calonge mj et al.,1994; feliubadal\u00f3 l.Et al., 1999; borsani g et al. 1999; torrents d.Et al., 1999). La cistinuira es una enfermedad autosomica recesiva causada pro mutaciones en los genes slc3a1 (rbat) y slc7a9 (b0,+ at) y caracterizada por el transporte defectuoso de cistina y amino\u00e1cidos b\u00e1sicos a trav\u00e9s de las membranas apicales del tubulo proximal del ri\u00f1\u00f3n y de las c\u00e9lulas epiteliales de intestino. la lpi es una rara enfermedad autosomica recesiva causada por mutaciones en el gen slc7a7 (y+lat1) (borsanica g et al., 1999; torrents d.Et al., 1999) y caracterizada por un defecto en el transporte de amoni\u00e1cidos b\u00e1sicos (peheentupa and visarkoripi, 1965). La lpi tiene una elevada preValencia (40% de los casos) entre la poblaci\u00f3n finlandesa, con una incidencia de 1\/60000. el sistema b0,+ formado por el heterodimero rbat\/b0+ at, fue descrito por primera vez en blastocistos de rat\u00f3n y se caracteriza por el transporte de amono\u00e1cidos neutros y b\u00e1sicos (van winkle  et al., 1988). el objetivo principal de esta tesis ha sido estudiar la biog\u00e9nesis de la subunidad pesada rbat y de la subunidad ligera b0+ at, cuando se expresaban aisladamente y cuando formaban el heterodimero rbat\/b0+at, responsable de la reabsorci\u00f3n de cistina y amino\u00e1cidos b\u00e1sicos en tubulo proximal de ri\u00f1\u00f3n (chillar\u00f3n et al., 2001; wagner et al., 2001). tambi\u00e9n se ha estudiado la biog\u00e9nesis de las mutaciones de cistinuria m467t, l89p, r365w, dupe5-e9 y t216m en el gen slc3a1, que codifica por la prote\u00edna rbat, y de las mutaciones de distinuira g105r, g195r, l283f, a354t, r333w, a182t, v170m, a70v en el gen slc7a9 que codifica por la prote\u00edna b0+ at. estos estudios han estado de gran utilidad para aclarar la<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Biog\u00e9nesis del transportador de cistinuria rbat\/b0,+ at<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Biog\u00e9nesis del transportador de cistinuria rbat\/b0,+ at <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Paola Chiara Bartoccioni <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Barcelona<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 12\/12\/2006<\/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>Manuel Palac\u00edn Prieto<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: virginia Nunes mart\u00ednez <\/li>\n<li>joan Bertran comulada (vocal)<\/li>\n<li>susana Balcells comas (vocal)<\/li>\n<li>n\u00faria Casals farr\u00e9 (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Paola Chiara Bartoccioni Los transportadores de amino\u00e1cidos han sido principalmente estudiados en el contexto de la reabsorci\u00f3n [&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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