{"id":101614,"date":"2018-03-11T10:23:28","date_gmt":"2018-03-11T10:23:28","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/proteomica-funcional-del-cofactor-tbce-patologa%c2%ada-molecular-de-los-sa%c2%adndromes-de-kenny-caffey-ar-kcs-y-sanjad-sakati-hrd\/"},"modified":"2018-03-11T10:23:28","modified_gmt":"2018-03-11T10:23:28","slug":"proteomica-funcional-del-cofactor-tbce-patologa%c2%ada-molecular-de-los-sa%c2%adndromes-de-kenny-caffey-ar-kcs-y-sanjad-sakati-hrd","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/bioquimica-molecular\/proteomica-funcional-del-cofactor-tbce-patologa%c2%ada-molecular-de-los-sa%c2%adndromes-de-kenny-caffey-ar-kcs-y-sanjad-sakati-hrd\/","title":{"rendered":"Prote\u00f3mica funcional del cofactor tbce: patolog\u00eda molecular de los s\u00edndromes de kenny-caffey (ar-kcs) y sanjad-sakati (hrd)"},"content":{"rendered":"<h2>Tesis doctoral de <strong> Gerardo Antonio Carranza Ferrer <\/strong><\/h2>\n<p>El citoesqueleto esta organizado por tres tipos de fibras, filamentos intermedios, microfilamentos de actina y microt\u00fabulos. Los microtubulos son filamentos polares din\u00e1micos ubicuos que gracias a su impresionante dinamicidad son esenciales para  que se realice la mitosis, para la motilidad, para la reorganizaci\u00f3n celular y para el transporte intracelular tanto en situaciones fisiol\u00f3gicas como patol\u00f3gicas.La subunidad funcional y estructural de los microt\u00fabulos es el heterod\u00edmero de alpha y beta-tubulina.La formaci\u00f3n del heterod\u00edmero es un proceso complicado y precisa de una serie de cofactores proteicos que act\u00faen de manera coordenada para facilitar la asociaci\u00f3n de alpha con beta-tubulina e incorporarse al microt\u00fabulo tras la hidr\u00f3lisis de gtp.Uno de estos cofactores es el cofactor e o tbce,que interacciona con alpha-tubulina tras su liberaci\u00f3n de cct para ayudar a su correctamento plegamiento y facilitar su incorporaci\u00f3n al d\u00edmero de tubulina .Tbce tambien participa en la despolimerizaci\u00f3n de microt\u00fabulos. el s\u00edndrome de hipoparatiroidismo  asociado a disformismo con retardo severo del crecimiento y del desarrollo representa en sus dos manifestaciones generales (s\u00edndromes de kenny-caffey y sanjad -sakati) una enfermedad autos\u00f3mica recesiva de consecuencias fatales. Se han identificado diferentes grupos de personas en las que el s\u00edndrome mapea en el cromosoma 1q42-43 identific\u00e1ndose el problema con una mutaci\u00f3n en el gen que codifica para el cofactor e del plegamiento de tubulinas. Las mutaciones demuestran que los microt\u00fabulos est\u00e1n alterados as\u00ed como el transporte intracelular con lo que se revela que la funci\u00f3n de este cofactor tambi\u00e9n esta relacionada con el mantenimiento del citoesqueleto de microt\u00fabulos. en esta tesis doctoral se ha llevado a cabo completos estudios prote\u00f3micos para llevar cabo una caracterizaci\u00f3n, lo m\u00e1s completa posible, funcional y estructural del cofactor e del plegamiento de la alpha-tubulina, as\u00ed como en el estudio de la patolog\u00eda molecular de los s\u00edndromes  de kenny-caffey y sanjad-sakati. Tambi\u00e9n he participado en estudios llevados a cabo con el cofactor b (tbcb) de dicho plegamiento.<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Prote\u00f3mica funcional del cofactor tbce: patolog\u00eda molecular de los s\u00edndromes de kenny-caffey (ar-kcs) y sanjad-sakati (hrd)<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Prote\u00f3mica funcional del cofactor tbce: patolog\u00eda molecular de los s\u00edndromes de kenny-caffey (ar-kcs) y sanjad-sakati (hrd) <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Gerardo Antonio Carranza Ferrer <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Cantabria<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 14\/06\/2010<\/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>Juan  Carlos Villegas Sordo<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: Jos\u00e9 Miguel Ortiz melon <\/li>\n<li>helena Soares (vocal)<\/li>\n<li>miquel Coll capella (vocal)<\/li>\n<li>Jos\u00e9 Mar\u00eda Valpuesta moralejo (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Gerardo Antonio Carranza Ferrer El citoesqueleto esta organizado por tres tipos de fibras, filamentos intermedios, microfilamentos de [&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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