{"id":109824,"date":"2011-04-07T00:00:00","date_gmt":"2011-04-07T00:00:00","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/cacna1a-mutations-with-clinical-relevance-in-migraine-affect-cav2-1-channel-regulation-by-g-proteins-and-snares\/"},"modified":"2011-04-07T00:00:00","modified_gmt":"2011-04-07T00:00:00","slug":"cacna1a-mutations-with-clinical-relevance-in-migraine-affect-cav2-1-channel-regulation-by-g-proteins-and-snares","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/fisiologia-humana\/cacna1a-mutations-with-clinical-relevance-in-migraine-affect-cav2-1-channel-regulation-by-g-proteins-and-snares\/","title":{"rendered":"Cacna1a mutations with clinical relevance in migraine affect cav2.1 channel regulation by g proteins and snares"},"content":{"rendered":"<h2>Tesis doctoral de <strong> Selma Serra Pascual <\/strong><\/h2>\n<p>Mutaciones en el gen que codifica la subunidad  \u00c2\u00bf 1a del canal de ca2+ de tipo p\/q (cacna1a), causan migra\u00f1a hemipl\u00e9jica familiar (mhf), se localizan en las regiones del poro o del sensor de voltaje  implican una ganancia en la funci\u00f3n del canal. Hemos estudiado las consecuencias funcionales de dos nuevas mutaciones en la subunidad  \u00c2\u00bf 1a identificadas en migra\u00f1osos. Por una parte, la mutaci\u00f3n y1245c, la \u00fanica encontrada en un segmento s1, incrementa la funci\u00f3n del canal reduciendo su umbral de activaci\u00f3n, la cin\u00e9tica de deactivaci\u00f3n y la inhibici\u00f3n producida por las subunidades g \u00edY y . Por otra parte, la mutaci\u00f3n a454t, situada en el lazo i-ii de la subunidad  \u00c2\u00bf 1a y no causante de mhf, est\u00e1 asociada a una atenuaci\u00f3n de los s\u00edntomas del aura migra\u00f1osa y no afecta a la activaci\u00f3n del canal. En cambio, s\u00ed altera  la regulaci\u00f3n de la inactivaci\u00f3n por subunidades ca v  \u00edY y prote\u00ednas snare y se observa tambi\u00e9n una reducci\u00f3n dr\u00e1stica de la eficiencia secretora dependiente de los canales mutantes. En conjunto,  nuestros resultados subrayan el papel estructural del segmento s1 en el movimiento del sensor de voltaje de los canales dependientes de voltaje de tipo p\/q y muestran por primera vez  la importancia del lazo intracelular i-ii en la interacci\u00f3n funcional entre el canal p\/q y les prote\u00ednas snare. Finalmente, proponemos que la variaci\u00f3n gen\u00e9tica del gen cacna1a puede no solo ser causa de migra\u00f1a sino tambi\u00e9n modificar el fenotipo migra\u00f1oso. .<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Cacna1a mutations with clinical relevance in migraine affect cav2.1 channel regulation by g proteins and snares<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Cacna1a mutations with clinical relevance in migraine affect cav2.1 channel regulation by g proteins and snares <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Selma Serra Pascual <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Pompeu fabra<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 04\/07\/2011<\/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>Jos\u00e9 Manuel Fernandez Fernandez<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: dimitri Kullmann <\/li>\n<li>carles Cant\u00ed nicol\u00e1s (vocal)<\/li>\n<li>  (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 Selma Serra Pascual Mutaciones en el gen que codifica la subunidad \u00c2\u00bf 1a del canal de ca2+ [&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":[8036,849,817,965,18712],"tags":[148876,219506,205677,219505],"class_list":["post-109824","post","type-post","status-publish","format-standard","hentry","category-biofisica","category-biologia-celular","category-fisiologia-humana","category-neuropatologia","category-pompeu-fabra","tag-carles-canti-nicolas","tag-dimitri-kullmann","tag-jose-manuel-fernandez-fernandez","tag-selma-serra-pascual"],"_links":{"self":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/109824","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=109824"}],"version-history":[{"count":0,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/109824\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/media?parent=109824"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/categories?post=109824"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/tags?post=109824"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}