{"id":79302,"date":"2018-03-09T23:25:06","date_gmt":"2018-03-09T23:25:06","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/caracteritzacio-de-mutacions-causants-de-la-malaltia-de-gaucher-aproximacio-a-una-terapia-genica\/"},"modified":"2018-03-09T23:25:06","modified_gmt":"2018-03-09T23:25:06","slug":"caracteritzacio-de-mutacions-causants-de-la-malaltia-de-gaucher-aproximacio-a-una-terapia-genica","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/barcelona\/caracteritzacio-de-mutacions-causants-de-la-malaltia-de-gaucher-aproximacio-a-una-terapia-genica\/","title":{"rendered":"Caracteritzaci\u00f3 de mutacions causants de la malaltia de gaucher. aproximaci\u00f3 a una ter\u00e1pia g\u00e9nica"},"content":{"rendered":"<h2>Tesis doctoral de <strong> Anna Diaz Font <\/strong><\/h2>\n<p>La enfermedad de gaucher es una enfermedad de acumulo lisosomal causada por una deficiencia del enzima glucocerebrosidasa o, en algunos casos, de su activador la saposina c. en esta tesis hemos caracterizado mutaciones que se forman a partir de recombinaciones entre el gen gba y el pseudogen gba. Tambi\u00e9n hemos descrito una mutaci\u00f3n en el gen psap.     en cu\u00e1ndo a la terapia g\u00e9nica, hemos utilizado dos aproximaciones. En primer lugar, el uso de quimeraplastos para corregir mutaciones en el gen gba. En segundo lugar, el uso de t\u00e9cnicas de rnai para inhibir o reducir la formaci\u00f3n de glucosilceramida, que es la que se acumula en la enfermedad.<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Caracteritzaci\u00f3 de mutacions causants de la malaltia de gaucher. aproximaci\u00f3 a una ter\u00e1pia g\u00e9nica<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Caracteritzaci\u00f3 de mutacions causants de la malaltia de gaucher. aproximaci\u00f3 a una ter\u00e1pia g\u00e9nica <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Anna Diaz Font <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Barcelona<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 30\/03\/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>Daniel Grinberg Vaisman<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: susana Balcells comas <\/li>\n<li>josep Mar\u00eda Aran perramon (vocal)<\/li>\n<li>amalia Mart\u00ednez mir (vocal)<\/li>\n<li>josefina Casas brugulat (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Anna Diaz Font La enfermedad de gaucher es una enfermedad de acumulo lisosomal causada por una deficiencia [&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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