{"id":107172,"date":"2011-04-03T00:00:00","date_gmt":"2011-04-03T00:00:00","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/estudio-de-fukutina-y-fkrp-y-su-implicacion-en-distroglicanopata%c2%adas\/"},"modified":"2011-04-03T00:00:00","modified_gmt":"2011-04-03T00:00:00","slug":"estudio-de-fukutina-y-fkrp-y-su-implicacion-en-distroglicanopata%c2%adas","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/estudio-de-fukutina-y-fkrp-y-su-implicacion-en-distroglicanopata%c2%adas\/","title":{"rendered":"Estudio de fukutina y fkrp y su implicaci\u00f3n en distroglicanopat\u00edas"},"content":{"rendered":"<h2>Tesis doctoral de <strong> Oihane Fano Bilbao <\/strong><\/h2>\n<p>Las distroglicanopat\u00edas constituyen un grupo heterog\u00e9neo de distrofias musculares cong\u00e9nitas con mayor o menor grado de afectaci\u00f3n cerebral y ocular, que tienen en com\u00fan la hipoglicosilaci\u00f3n del alfadistroglicano (alfa-dg). El alfa-dg es el componente central del complejo glicoproteico de uni\u00f3n a distrofina (dgc), sirviendo de nexo de uni\u00f3n entre el interior celular y la matriz extracelular (mec). Hasta la fecha s\u00f3lo se conocen 6 genes implicados en este grupo de patolog\u00edas, pomt1, pomt2, pomgnt1, fukutina, fkrp y large, que no representan m\u00e1s que una peque\u00f1a proporci\u00f3n de los casos. Salvo pomt1 y pomt2, que residen en el ret\u00edculo endopl\u00e1smico (re) la mayor\u00eda de los estudios sit\u00faan las dem\u00e1s prote\u00ednas en el aparato de golgi (ag). pomt1, pomt2 y pomgnt1 son gicosiltransferasas demostradas. No obstante, a\u00fan se desconoce la funci\u00f3n que desempe\u00f1an fukutina, fkrp, y large, si bien en esta \u00faltima todo parece indicar que se trata de una glicosiltransferasa. En este trabajo de tesis se han determinado posibles dominios de inter\u00e9s en fukutina y fkrp, y se ha llevado a cabo la caracterizaci\u00f3n molecular de los mismos. Se ha confirmado la localizaci\u00f3n subcelular de ambas prote\u00ednas en el ag, y se ha establecido la importancia de la regi\u00f3n transmembrana en la correcta localizaci\u00f3n tanto de fukutina como de fkrp. En el caso de fukutina, la eliminaci\u00f3n de la transmembrana parece conllevar degradaci\u00f3n proteica, y\/o alteraci\u00f3n en el patr\u00f3n de secreci\u00f3n de la misma. No obstante, no se han podido detectar alteraciones en la glicosilaci\u00f3n y localizaci\u00f3n del alfa-dg al eliminar los dominios de inter\u00e9s caracterizados. En lo que respecta a fkrp, si bien la expresi\u00f3n de la prote\u00edna no pareci\u00f3 verse alterada, la ausencia de transmembrana parece afectar al correcto transporte del alfa-dg glicosilado a la membrana plasm\u00e1tica. Tambi\u00e9n se trat\u00f3, si bien los resultados no fueron concluyentes, de establecer si fukutina o fkrp influ\u00edan en la diferenciaci\u00f3n muscular. Adem\u00e1s, se siguieron buscando nuevos genes candidatos implicados en distroglicanopat\u00edas, mediante el estudio de pacientes con alguna de estas patolog\u00edas, as\u00ed como mediante el an\u00e1lisis de proteoma de un paciente con mutaciones en el gen fktn.<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Estudio de fukutina y fkrp y su implicaci\u00f3n en distroglicanopat\u00edas<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Estudio de fukutina y fkrp y su implicaci\u00f3n en distroglicanopat\u00edas <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Oihane Fano Bilbao <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Aut\u00f3noma de Madrid<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 04\/03\/2011<\/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>Jes\u00fas Cruces Pinto<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: rafael Garesse alarc\u00f3n <\/li>\n<li>Antonio Coloma jerez (vocal)<\/li>\n<li>Jes\u00fas Molano mateos (vocal)<\/li>\n<li>Jos\u00e9 Fernandez piqueras (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Oihane Fano Bilbao Las distroglicanopat\u00edas constituyen un grupo heterog\u00e9neo de distrofias musculares cong\u00e9nitas con mayor o menor [&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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