{"id":85608,"date":"2000-04-07T00:00:00","date_gmt":"2000-04-07T00:00:00","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/identificacion-y-caracterizacion-del-gen-asociado-a-la-epilepsia-mioclonica-progresiva-de-tipo-2-o-enfermedad-de-lafora\/"},"modified":"2000-04-07T00:00:00","modified_gmt":"2000-04-07T00:00:00","slug":"identificacion-y-caracterizacion-del-gen-asociado-a-la-epilepsia-mioclonica-progresiva-de-tipo-2-o-enfermedad-de-lafora","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/ciencias-de-la-vida\/identificacion-y-caracterizacion-del-gen-asociado-a-la-epilepsia-mioclonica-progresiva-de-tipo-2-o-enfermedad-de-lafora\/","title":{"rendered":"Identificacion y caracterizacion del gen asociado a la epilepsia mioclonica progresiva de tipo 2 o enfermedad de lafora."},"content":{"rendered":"<h2>Tesis doctoral de <strong> M. Del Pilar Gomez Garre <\/strong><\/h2>\n<p>Se ha realizado el clonaje posicional del gen asociado a la enfermedad de lafora, localizado en la regi\u00f3n cromos\u00f3mica 6q24. Los estudios de ligamiento gen\u00e9tico y an\u00e1lisis de eventos recombinantes realizados, sugieren que la enfermedad de lafora es gen\u00e9ticamente heterog\u00e9nea. El gen, epm2, se extiende a lo largo de 70 kb de adn gen\u00f3mico y consta de 4 exones, dos de los cuales presentan splicing alternativo. La prote\u00edna codificada por el gen es una prote\u00edna tirosina fosfatasa.  la expresi\u00f3n del gen es pr\u00e1cticamente ubicua ya que se ha detectado en la mayor\u00eda de los tejidos utilizados en el estudio. La expresi\u00f3n es m\u00e1xima en tejido muscular (coraz\u00f3n y m\u00fasculo esuqel\u00e9tico).  hemos identificado 26 mutaciones distintas en el gen epm2. Tres de estas mutaciones son mayoritarias entre la poblaci\u00f3n afecta. Estas tres mutaciones mayoristas son: r241stop, g279s y r108c, y las tres afectan a dinucle\u00f3tidos cpg.<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Identificacion y caracterizacion del gen asociado a la epilepsia mioclonica progresiva de tipo 2 o enfermedad de lafora.<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Identificacion y caracterizacion del gen asociado a la epilepsia mioclonica progresiva de tipo 2 o enfermedad de lafora. <\/li>\n<li><strong>Autor:<\/strong>\u00a0 M. Del Pilar Gomez Garre <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Aut\u00f3noma de Madrid<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 04\/07\/2000<\/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> Serratosa Fernandez Jos\u00e9 M.<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal:  Carrascosa Baeza Jos\u00e9 M. (secretario) <\/li>\n<li>Jos\u00e9 Angel Berciano Blanco (vocal)<\/li>\n<li>Francisco Palau Martinez (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 M. Del Pilar Gomez Garre Se ha realizado el clonaje posicional del gen asociado a la enfermedad [&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":[36483,35],"tags":[180161,12032,11565,180159,180160],"class_list":["post-85608","post","type-post","status-publish","format-standard","hentry","category-biologia-molecular","category-ciencias-de-la-vida","tag-carrascosa-baeza-jose-m-secretario","tag-francisco-palau-Martinez","tag-jose-angel-berciano-blanco","tag-m-del-pilar-gomez-garre","tag-serratosa-fernandez-jose-m"],"_links":{"self":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/85608","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=85608"}],"version-history":[{"count":0,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/85608\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/media?parent=85608"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/categories?post=85608"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/tags?post=85608"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}