{"id":57760,"date":"2018-03-09T22:45:36","date_gmt":"2018-03-09T22:45:36","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/caracterizacion-bioqua%c2%admica-y-localizacion-de-la-protea%c2%adna-mlc1-implicada-en-la-leucoencefalopata%c2%ada-megalencefalica\/"},"modified":"2018-03-09T22:45:36","modified_gmt":"2018-03-09T22:45:36","slug":"caracterizacion-bioqua%c2%admica-y-localizacion-de-la-protea%c2%adna-mlc1-implicada-en-la-leucoencefalopata%c2%ada-megalencefalica","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/barcelona\/caracterizacion-bioqua%c2%admica-y-localizacion-de-la-protea%c2%adna-mlc1-implicada-en-la-leucoencefalopata%c2%ada-megalencefalica\/","title":{"rendered":"Caracterizaci\u00f3n bioqu\u00edmica y localizaci\u00f3n de la prote\u00edna mlc1, implicada en la leucoencefalopat\u00edamegalencef\u00e1lica"},"content":{"rendered":"<h2>Tesis doctoral de <strong> Oscar Tejido Hermida <\/strong><\/h2>\n<p>La leucoencefalopat\u00eda megalencef\u00e1lica (mlc) consiste en un trastorno gen\u00e9tico caracterizado por una degeneraci\u00f3n qu\u00edstica de la mielina.     a partir de 1995, se elabor\u00f3 un cuadro cl\u00ednico de la enfermedad que se caracterizaba por presentar macrocefalia, deterioro de las funciones motoras y una actividad intelectual medianamente normal o ligeramente disminuida. Estudios de imagen por resonancia magn\u00e9tica (mri) revelaban un cerebro hipertrofiado, con una sustancia blanca difusa y la presencia de quistes a nivel subcortical (van der knaap et al., 1995; singhal et al., 1996; top\u00ed\u00a7u et el., 1996).     con el fin de conocer el mecanismo molecular de la enfermedad, y bas\u00e1ndose en an\u00e1lisis gen\u00e9ticos, se detect\u00f3  un locus para mlc en el cromosoma 22qtel (top\u00ed\u00a7u et al., 2000). La mayor parte de los pacientes de mlc analizados presentaban mutaciones en un gen situado en dicho locus, al que denominaron mlc1 (leegwater et al., 2001). Las mutaciones en la prote\u00edna mlc1 analizadas en esta tesis, producen un defecto bioqu\u00edmico com\u00fan en sistemas heter\u00f3logos, que se traduce en la reducci\u00f3n de los niveles de prote\u00edna en la membrana plasm\u00e1tica, tanto en sistemas heter\u00f3logos como en cultivos celulares donde se expresa de forma end\u00f3gena. Dicho defecto se asocia a una inestabilidad de la prote\u00edna mutante a nivel de la membrana plasm\u00e1tica. Esta inestabilidad se debe a que la prote\u00edna mutante es degradada tanto lisosomas, como a trav\u00e9s de la maquinaria ubiquitina-proteasoma.     la capacidad de rescatar la expresi\u00f3n de la prote\u00edna mutante a base de tratamientos a bajas temperaturas o chaperonas qu\u00edmicas, como el glicerol, indica que dichas mutaciones provocan un defecto de plegamiento de la prote\u00edna. La curcumina, un compuesto natural presente en el curry, act\u00faa como una chaperona que rescata, \u00abin vitro\u00bb, la expresi\u00f3n de mutantes de mlc1 descritos en pacientes. De modo que podr\u00eda existir la posibilidad de desarrollar una terapia basada en la administrac<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Caracterizaci\u00f3n bioqu\u00edmica y localizaci\u00f3n de la prote\u00edna mlc1, implicada en la leucoencefalopat\u00edamegalencef\u00e1lica<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Caracterizaci\u00f3n bioqu\u00edmica y localizaci\u00f3n de la prote\u00edna mlc1, implicada en la leucoencefalopat\u00edamegalencef\u00e1lica <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Oscar Tejido Hermida <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Barcelona<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 29\/03\/2007<\/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>Raul Estevez Povedano<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: isidro Ferrer <\/li>\n<li>albert Mart\u00ednez (vocal)<\/li>\n<li>david Torrents (vocal)<\/li>\n<li>aurora Pujol onofre (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Oscar Tejido Hermida La leucoencefalopat\u00eda megalencef\u00e1lica (mlc) consiste en un trastorno gen\u00e9tico caracterizado por una degeneraci\u00f3n qu\u00edstica [&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":[951,3178],"tags":[110749,127643,127642,127641,127639,127640],"class_list":["post-57760","post","type-post","status-publish","format-standard","hentry","category-barcelona","category-proteinas","tag-albert-Martinez","tag-aurora-pujol-onofre","tag-david-torrents","tag-isidro-ferrer","tag-oscar-tejido-hermida","tag-raul-estevez-povedano"],"_links":{"self":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/57760","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=57760"}],"version-history":[{"count":0,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/57760\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/media?parent=57760"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/categories?post=57760"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/tags?post=57760"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}