{"id":69621,"date":"2018-03-09T23:14:06","date_gmt":"2018-03-09T23:14:06","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/expresion-e-interaccion-de-las-proteinas-estructurales-y-enzimaticas-que-intervienen-en-la-patogenia-de-las-distrofias-musculares-analisis-cla%c2%adnico-patologico-y-genetico\/"},"modified":"2018-03-09T23:14:06","modified_gmt":"2018-03-09T23:14:06","slug":"expresion-e-interaccion-de-las-proteinas-estructurales-y-enzimaticas-que-intervienen-en-la-patogenia-de-las-distrofias-musculares-analisis-cla%c2%adnico-patologico-y-genetico","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/ciencias-medicas\/expresion-e-interaccion-de-las-proteinas-estructurales-y-enzimaticas-que-intervienen-en-la-patogenia-de-las-distrofias-musculares-analisis-cla%c2%adnico-patologico-y-genetico\/","title":{"rendered":"Expresi\u00f3n e interacci\u00f3n de las proteinas estructurales y enzim\u00e1ticas que intervienen en la patogenia de las distrofias musculares; analisis cl\u00ednico, patol\u00f3gico y gen\u00e9tico"},"content":{"rendered":"<h2>Tesis doctoral de <strong> Jaume Colomer Oferil <\/strong><\/h2>\n<p>A,- hipotesis  el conocimiento del grado de expresi\u00f3n proteica e interacci\u00f3n entre las diversas prote\u00ednas estructurales de membrana y enzim\u00e1ticas, responsables de la mayor parte de las distrofias musculares, pueden ayudar en el diagn\u00f3stico cl\u00ednico y gen\u00e9tico, aportando a la vez informaci\u00f3n sobre la patogenia de las distintas entidades.  la identificaci\u00f3n de los patrones de interacci\u00f3n proteica, especialmente en aquellas enfermedades en que los defectos proteicos primarios forman parte de otros complejos proteicos. (Dystrophin associated gluycoprotein, dag), constituir\u00e1n una prioridad en esta tesis.  b,- objetivos  objetivo 1,- estudiar la expresi\u00f3n e interaccion de la distrofina y glicoprote\u00ednas asociadas a la distrofina -dystrophin associated glicproteins -(dag) en 17 pacientes afectados de una distrofia muscular de becker (dmb) y en 15 de diciembre (dmd).  objetivo 2,- estudiar la expresi\u00f3n e interacci\u00f3n de la distrofina y glicoprote\u00ednas asociadas a la distrofina dystrophin associated glicporteins- (dag) en 11 pacientes afectos de una distrofia muscular por d\u00e9ficit primario de sarcoglicanos.  objetivo 3,- valorar mediante western blot la expresi\u00f3n de la calpa\u00edna 3 en 4 pacientes con diferentes mutaciones en el gen calpn 3.  objetivo 4,- caracterizaci\u00f3n fenot\u00edpica y expresi\u00f3n proteica en un grupo heterog\u00e9neo de pacientes con d\u00e9ficits proteicos a nivel de la matriz extracelular, l\u00e1mina basal y nucleoprote\u00ednas.  conclusiones  1,- el grado de expresi\u00f3n de la distrofina se correlaciona bien con los fenotipos distrofia muscular de duchenne\/becker, aunque en este \u00faltimo grupo no se ha podido objetivar una clara correlaci\u00f3n entre el grado de expresi\u00f3n proteica y el fenotipo observado.  el d\u00e9ficit de distrofina condicion\u00f3 una interacci\u00f3n con todos los componentes del complejo sarcoglicano con especial reducci\u00f3n del gamma-sarcoglicano y beta-distroglicano. La interacci\u00f3n con la merosina fue muy d<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Expresi\u00f3n e interacci\u00f3n de las proteinas estructurales y enzim\u00e1ticas que intervienen en la patogenia de las distrofias musculares; analisis cl\u00ednico, patol\u00f3gico y gen\u00e9tico<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Expresi\u00f3n e interacci\u00f3n de las proteinas estructurales y enzim\u00e1ticas que intervienen en la patogenia de las distrofias musculares; analisis cl\u00ednico, patol\u00f3gico y gen\u00e9tico <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Jaume Colomer Oferil <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Barcelona<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 22\/07\/2004<\/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>Emilio Fernandez Alvarez<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: rafael Jimenez gonzalez <\/li>\n<li>Manuel Roig quilis (vocal)<\/li>\n<li>Francisco Javier Lopez pison (vocal)<\/li>\n<li>  (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Jaume Colomer Oferil A,- hipotesis el conocimiento del grado de expresi\u00f3n proteica e interacci\u00f3n entre las diversas [&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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