{"id":53230,"date":"2018-03-09T22:40:53","date_gmt":"2018-03-09T22:40:53","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/generacion-de-un-raton-deficiente-en-6-fosfofructo-1-quinasa-un-modelo-de-glucogenosis-tipo-vii\/"},"modified":"2018-03-09T22:40:53","modified_gmt":"2018-03-09T22:40:53","slug":"generacion-de-un-raton-deficiente-en-6-fosfofructo-1-quinasa-un-modelo-de-glucogenosis-tipo-vii","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/quimica\/generacion-de-un-raton-deficiente-en-6-fosfofructo-1-quinasa-un-modelo-de-glucogenosis-tipo-vii\/","title":{"rendered":"Generaci\u00f3n de un rat\u00f3n deficiente en 6-fosfofructo-1-quinasa: un modelo de glucogenosis tipo vii"},"content":{"rendered":"<h2>Tesis doctoral de <strong> Miguel Garcia Martinez <\/strong><\/h2>\n<p>La reacci\u00f3n catalizada por la 6-fosfofructo-1-quinasa (pfk-1) es el paso limitante de la gluc\u00f3lisis. Existen 3 genes que codifican para las tres isoenzimas descritas de la pfk-1: la muscular, la hep\u00e1tica y plaquetaria. La p\u00e9rdida de la isoenzima muscular de la pfk-1 es la causante de la glucogenosis de tipo vii o enfermedad de tarui. \u00e9sta se caracteriza por la ausencia de actividad pfk-1 en el m\u00fasculo esquel\u00e9tico y un d\u00e9ficit parcial en el eritrocito. Los s\u00edntomas m\u00e1s comunes son miopat\u00eda con intolerancia al ejercicio y anemia hemol\u00edtica compensada. Debido a su baja incidencia y a la ausencia de un modelo en rat\u00f3n, actualmente son poco conocidas las adaptaciones fisiol\u00f3gicas y bioqu\u00edmicas, as\u00ed como la interacci\u00f3n entre los diferentes tejidos afectados por el d\u00e9ficit de pfk-1m.  en este trabajo se ha generado un modelo murino de glucogenosis de tipo vii mediante t\u00e9cnicas de recombinaci\u00f3n hom\u00f3loga en c\u00e9lulas es. Este animal reproduc\u00eda la sintomatolog\u00eda caracter\u00edstica de esta enfermedad asociada con una elevada mortalidad. As\u00ed, el m\u00fasculo esquel\u00e9tico de estos animales presentaba un bloqueo glucol\u00edtico que provocaba el ac\u00famulo de hexosas monofosfato y gluc\u00f3geno. Este bloqueo glucol\u00edtico estaba acompa\u00f1ado por una severa intolerancia al ejercicio, caracterizada por una depleci\u00f3n del atp muscular.  asimismo, el estudio de la musculatura implicada en la respiraci\u00f3n revel\u00f3 una severa afectaci\u00f3n morfol\u00f3gica y bioqu\u00edmica asociada a una posible alteraci\u00f3n funcional de este proceso. Del mismo modo, la musculatura card\u00edaca tambi\u00e9n estaba afectada por la carencia de pfk-1m.  paralelamente, se estudi\u00f3 si este animal reproduc\u00eda las alteraciones eritrocitarias descritas en los pacientes. As\u00ed, los ratones deficientes en pfk-1m presentaban una hem\u00f3lisis cr\u00f3nica caracterizada por un elevado n\u00famero de reticulocitos en sangre. Se observ\u00f3 tambi\u00e9n una esplenomegalia asociada a un incremento del n\u00famero de precurs<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Generaci\u00f3n de un rat\u00f3n deficiente en 6-fosfofructo-1-quinasa: un modelo de glucogenosis tipo vii<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Generaci\u00f3n de un rat\u00f3n deficiente en 6-fosfofructo-1-quinasa: un modelo de glucogenosis tipo vii <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Miguel Garcia Martinez <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Aut\u00f3noma de barcelona<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 19\/06\/2006<\/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>Fatima Bosch Tubert<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: carles Ar\u00fas caralt\u00f3 <\/li>\n<li>joaquin Arenas barbero (vocal)<\/li>\n<li>ramon Bartrons bach (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 Miguel Garcia Martinez La reacci\u00f3n catalizada por la 6-fosfofructo-1-quinasa (pfk-1) es el paso limitante de la gluc\u00f3lisis. [&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":[160,115,955,940,91,17],"tags":[17647,14073,24370,19280,33596],"class_list":["post-53230","post","type-post","status-publish","format-standard","hentry","category-bioquimica","category-bioquimica-molecular","category-enzimologia","category-genetica-bioquimica","category-procesos-metabolicos","category-quimica","tag-carles-arus-caralto","tag-fatima-bosch-tubert","tag-joaquin-arenas-barbero","tag-miguel-garcia-Martinez","tag-ramon-bartrons-bach"],"_links":{"self":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/53230","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=53230"}],"version-history":[{"count":0,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/53230\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/media?parent=53230"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/categories?post=53230"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/tags?post=53230"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}