{"id":25012,"date":"2018-03-09T09:16:13","date_gmt":"2018-03-09T09:16:13","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/transportadores-heteromericos-de-aminoacidos-nuevas-subunidades-ligeras-lat-2-y-asc-1-y-estudio-funcional-de-mutaciones-en-ylat-1-y-rbat\/"},"modified":"2018-03-09T09:16:13","modified_gmt":"2018-03-09T09:16:13","slug":"transportadores-heteromericos-de-aminoacidos-nuevas-subunidades-ligeras-lat-2-y-asc-1-y-estudio-funcional-de-mutaciones-en-ylat-1-y-rbat","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/quimica\/transportadores-heteromericos-de-aminoacidos-nuevas-subunidades-ligeras-lat-2-y-asc-1-y-estudio-funcional-de-mutaciones-en-ylat-1-y-rbat\/","title":{"rendered":"Transportadores heterom\u00e9ricos de amino\u00e1cidos: nuevas subunidades ligeras (lat-2 y asc-1) y estudio funcional de mutaciones en y+lat-1 y rbat"},"content":{"rendered":"<h2>Tesis doctoral de <strong> Marta Pineda Riu <\/strong><\/h2>\n<p>En esta tesis han sido estudiados diferentes miembros de la familia de transportadores heterom\u00e9ricos de amino\u00e1cidos. Los resultados se resumen a continuaci\u00f3n:  las mutaciones l334r, g54v, m50k, g338d, s386r, w242x, 1181-2a-t, 1291delcttt, 1548dlc y 1746delg de y+lat-1 presentes en pacientes de lpi anulan la actividad de transporte de amino\u00e1cidos cuando se coexpresan con 4f2hc en oocitos de xenopus. El hecho de que las mutaciones l334r y g54v se expresen en la membrana plasm\u00e1tica indica que se trata de mutaciones inactivadoras de la actividad de transporte y, por lo tanto, deben afectar residuos cruciales para la funci\u00f3n de y+lat-1.  lat-2 pertenece a la familia de subunidades ligeras de transportadores heterom\u00e9ricos de amino\u00e1cidos. La expresi\u00f3n de lat-2 junto con 4f2hc en oocitos de xenopus induce transporte de amino\u00e1cidos neutros de tama\u00f1o grande y peque\u00f1o, independiente de i\u00f3n sodio, de elevada afinidad y transestimulable. en ri\u00f1\u00f3n, lat-2 se expresa en las c\u00e9lulas epiteliales del t\u00fabulo proximal.  asc-1 pertenece a la familia de subunidades ligeras de transportadores heterom\u00e9ricos de amino\u00e1cidos. La expresi\u00f3n de 4f2hc\/asc-1 en oocitos de xenopus y c\u00e9lulas hela induce transporte de amino\u00e1cidos neutros de peque\u00f1o tama\u00f1o (d- y l- is\u00f3meros), independiente de i\u00f3n sodio y de elevada afinidad, mediando difusi\u00f3n e intercambio. En ri\u00f1\u00f3n, asc-1 se expresa en c\u00e9lulas epiteliales de los tramos delgados del asa de henle, el t\u00fabulo distal y el conducto colector. Se descarta la implicaci\u00f3n de asc-1 en cistinuria por el hecho de que \u00e9ste no se localiza en el t\u00fabulo proximal, no se han encontrado mutaciones en su gen en pacientes de cistinuria y el mutante asc-1(e112d), sugerido como espec\u00edfico de cistinuria, es plenamente funcional.  los mutantes en ciste\u00ednas de rbat c18s, c114s, c242s, c273s y c685s son plenamente funcionales. Por el contrario, el mutante de rbat c571s anula la actividad de transporte inducida, e<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Transportadores heterom\u00e9ricos de amino\u00e1cidos: nuevas subunidades ligeras (lat-2 y asc-1) y estudio funcional de mutaciones en y+lat-1 y rbat<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Transportadores heterom\u00e9ricos de amino\u00e1cidos: nuevas subunidades ligeras (lat-2 y asc-1) y estudio funcional de mutaciones en y+lat-1 y rbat <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Marta Pineda Riu <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Barcelona<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 23\/07\/2003<\/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: carmen Arag\u00f3n rueda <\/li>\n<li>Francisco Javier Casado merediz (vocal)<\/li>\n<li>Mar\u00eda del pilar Lostao crespo (vocal)<\/li>\n<li>susana Balcells comas (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Marta Pineda Riu En esta tesis han sido estudiados diferentes miembros de la familia de transportadores heterom\u00e9ricos [&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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