{"id":132957,"date":"1997-01-01T00:00:00","date_gmt":"1997-01-01T00:00:00","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/analisis-molecular-de-las-atrofias-musculares-espinales\/"},"modified":"1997-01-01T00:00:00","modified_gmt":"1997-01-01T00:00:00","slug":"analisis-molecular-de-las-atrofias-musculares-espinales","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/ciencias-de-la-vida\/analisis-molecular-de-las-atrofias-musculares-espinales\/","title":{"rendered":"Analisis molecular de las atrofias musculares espinales."},"content":{"rendered":"<h2>Tesis doctoral de <strong> Elena Bussaglia <\/strong><\/h2>\n<p>Las atrofias musculares espinales (ame) constituyen un grupo de enfermedades neuromusculares hereditarias caracterizadas por la degeneracion de las celulas del asta anterior de la medula espinal. Las ames ocupan el segundo lugar en frecuencia, despues de la fibrosis quistica, entre las enfermedades geneticas con un patron de herencia autosomico recesivo, constituyendo una de las principales causas de mortalidad infantil. Se clasifican en tres grupos en base a la gravedad de los sintomas, la edad de aparicion de los mismos y la evolucion: la forma aguda o enfermedad de werdnig-hoffmann, la forma intermedia tipo ii y la forma cronica tipo iii o enfermedad de kugelberg-welander. En la region 5q13 se han caracterizado dos genes implicados en las ames. El gen smn \u00ab\u00bbsurvival motor neuron\u00bb\u00bb esta delecionado en el 90% de los afectados independientemente de la gravedad de la enfermedad. En el 7% restante se ha identificado una delecion de 4 pb (agag) en el codon 133-134, provocando un desplazamiento del molde de lectura de la proteina, cesandose un codon stop prematuro situado 45 nucleotidos hacia el extremo 3&#8243;\u00bb. El gen naip esta delecionado en el 52% de los afectados de ame tipo i y en el 18% de los tipos ii y iii.<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Analisis molecular de las atrofias musculares espinales.<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Analisis molecular de las atrofias musculares espinales. <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Elena Bussaglia <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Barcelona<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 01\/01\/1997<\/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>Montserrat Baiget Bast\u00fas<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: Roser Gonzalez Duarte <\/li>\n<li>Pia Gallano Petit (vocal)<\/li>\n<li>Javier Ben\u00edtez Ortiz (vocal)<\/li>\n<li>Emilio Fernandez Alvarez (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Elena Bussaglia Las atrofias musculares espinales (ame) constituyen un grupo de enfermedades neuromusculares hereditarias caracterizadas por la [&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":[951,212,35,2820],"tags":[246863,767,7788,13786,48618,11379],"class_list":["post-132957","post","type-post","status-publish","format-standard","hentry","category-barcelona","category-biologia-humana","category-ciencias-de-la-vida","category-genetica-humana","tag-elena-bussaglia","tag-emilio-fernandez-alvarez","tag-javier-benitez-ortiz","tag-montserrat-baiget-bastus","tag-pia-gallano-petit","tag-roser-gonzalez-duarte"],"_links":{"self":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/132957","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=132957"}],"version-history":[{"count":0,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/132957\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/media?parent=132957"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/categories?post=132957"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/tags?post=132957"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}