{"id":279851,"date":"2024-07-31T09:00:19","date_gmt":"2024-07-31T07:00:19","guid":{"rendered":"https:\/\/dhcp205002.cbm.uam.es\/?page_id=279851"},"modified":"2025-07-07T10:13:55","modified_gmt":"2025-07-07T08:13:55","slug":"enfermedad-de-huntington-y-otras-enfermedades-del-sistema-nervioso-central","status":"publish","type":"page","link":"https:\/\/www.cbm.uam.es\/index.php\/programas-cientificos\/procesos-fisiologicos-y-patologicos\/neuropatologia-molecular\/enfermedad-de-huntington-y-otras-enfermedades-del-sistema-nervioso-central\/?lang=es","title":{"rendered":"Enfermedad de Huntington y otras enfermedades del sistema nervioso central"},"content":{"rendered":"<p>[et_pb_section fb_built=&#8221;1&#8243; _builder_version=&#8221;4.27.0&#8243; _module_preset=&#8221;default&#8221; background_color=&#8221;#34609B&#8221; background_image=&#8221;https:\/\/www.cbm.uam.es\/wp-content\/uploads\/2024\/07\/iStock-1356994685small-scaled.jpg&#8221; background_position=&#8221;bottom_center&#8221; background_vertical_offset=&#8221;32%&#8221; min_height=&#8221;352px&#8221; height=&#8221;294px&#8221; da_disable_devices=&#8221;off|off|off&#8221; global_colors_info=&#8221;{}&#8221; da_is_popup=&#8221;off&#8221; da_exit_intent=&#8221;off&#8221; da_has_close=&#8221;on&#8221; da_alt_close=&#8221;off&#8221; da_dark_close=&#8221;off&#8221; da_not_modal=&#8221;on&#8221; da_is_singular=&#8221;off&#8221; da_with_loader=&#8221;off&#8221; da_has_shadow=&#8221;on&#8221;][et_pb_row column_structure=&#8221;2_5,3_5&#8243; use_custom_gutter=&#8221;on&#8221; gutter_width=&#8221;4&#8243; _builder_version=&#8221;4.23.4&#8243; _module_preset=&#8221;default&#8221; background_color=&#8221;RGBA(255,255,255,0)&#8221; custom_margin=&#8221;61px||||false|false&#8221; custom_padding=&#8221;||0px|||&#8221; global_colors_info=&#8221;{}&#8221;][et_pb_column type=&#8221;2_5&#8243; _builder_version=&#8221;4.23.4&#8243; _module_preset=&#8221;default&#8221; background_color=&#8221;rgba(52,96,155,0.83)&#8221; custom_padding=&#8221;50px||50px|50px|false|false&#8221; border_radii=&#8221;on|15px|15px|15px|15px&#8221; global_colors_info=&#8221;{}&#8221;][et_pb_text _builder_version=&#8221;4.25.0&#8243; _module_preset=&#8221;default&#8221; text_text_color=&#8221;#FFFFFF&#8221; custom_margin=&#8221;0px||10px||false|false&#8221; custom_padding=&#8221;0px||0px||false|false&#8221; global_colors_info=&#8221;{}&#8221;]<\/p>\n<p>Programa Cient\u00edfico<\/p>\n<p>[\/et_pb_text][et_pb_heading title=&#8221;Procesos fisiol\u00f3gicos y patol\u00f3gicos&#8221; _builder_version=&#8221;4.25.0&#8243; _module_preset=&#8221;default&#8221; title_font=&#8221;Montserrat||||||||&#8221; title_text_color=&#8221;#FFFFFF&#8221; title_font_size=&#8221;43px&#8221; global_colors_info=&#8221;{}&#8221;][\/et_pb_heading][\/et_pb_column][et_pb_column type=&#8221;3_5&#8243; _builder_version=&#8221;4.23.4&#8243; _module_preset=&#8221;default&#8221; custom_padding=&#8221;157px||||false|false&#8221; global_colors_info=&#8221;{}&#8221;][et_pb_text _builder_version=&#8221;4.25.0&#8243; _module_preset=&#8221;default&#8221; global_colors_info=&#8221;{}&#8221;]<\/p>\n<h4 style=\"text-align: center;\"><span style=\"color: #13b5bd;\">UNIDADES EN ESTE PROGRAMA<br \/>\n<\/span><\/h4>\n<hr>\n<h6 style=\"text-align: center;\"><span style=\"color: #13b5bd;\"><br \/>\n<a href=\"https:\/\/www.cbm.uam.es\/index.php\/programas-cientificos\/procesos-fisiologicos-y-patologicos\/neuropatologia-molecular\/?lang=es\">Neuropatolog\u00eda molecular<\/a><\/span> <span style=\"color: #abb8c3;\"><a href=\"https:\/\/www.cbm.uam.es\/index.php\/programas-cientificos\/procesos-fisiologicos-y-patologicos\/redes-metabolicas-y-senalizadoras-en-la-enfermedad\/?lang=es\">Redes metab\u00f3licas y se\u00f1alizadoras en la enfermedad<\/a><\/span><\/h6>\n<p>[\/et_pb_text][\/et_pb_column][\/et_pb_row][\/et_pb_section][et_pb_section fb_built=&#8221;1&#8243; _builder_version=&#8221;4.23.4&#8243; _module_preset=&#8221;default&#8221; background_enable_image=&#8221;off&#8221; background_size=&#8221;custom&#8221; background_image_height=&#8221;84%&#8221; background_position=&#8221;bottom_right&#8221; custom_margin=&#8221;||0px||false|false&#8221; custom_padding=&#8221;||0px||false|false&#8221; da_disable_devices=&#8221;off|off|off&#8221; global_colors_info=&#8221;{}&#8221; da_is_popup=&#8221;off&#8221; da_exit_intent=&#8221;off&#8221; da_has_close=&#8221;on&#8221; da_alt_close=&#8221;off&#8221; da_dark_close=&#8221;off&#8221; da_not_modal=&#8221;on&#8221; da_is_singular=&#8221;off&#8221; da_with_loader=&#8221;off&#8221; da_has_shadow=&#8221;on&#8221;][et_pb_row _builder_version=&#8221;4.23.4&#8243; _module_preset=&#8221;default&#8221; custom_margin=&#8221;||0px||false|false&#8221; custom_padding=&#8221;||0px||false|false&#8221; global_colors_info=&#8221;{}&#8221;][et_pb_column type=&#8221;4_4&#8243; _builder_version=&#8221;4.23.4&#8243; _module_preset=&#8221;default&#8221; global_colors_info=&#8221;{}&#8221;][et_pb_heading title=&#8221;GRUPO DE INVESTIGACI\u00d3N&#8221; _builder_version=&#8221;4.25.0&#8243; _module_preset=&#8221;default&#8221; title_level=&#8221;h5&#8243; title_text_color=&#8221;#13B5BD&#8221; custom_margin=&#8221;50px||0px||false|false&#8221; global_colors_info=&#8221;{}&#8221;][\/et_pb_heading][et_pb_blurb title=&#8221;Enfermedad de Huntington y otras enfermedades del sistema nervioso central&#8221; use_icon=&#8221;on&#8221; font_icon=&#8221;&#xe046;||divi||400&#8243; icon_color=&#8221;#13B5BD&#8221; icon_placement=&#8221;left&#8221; image_icon_width=&#8221;26px&#8221; content_max_width=&#8221;1100px&#8221; content_max_width_tablet=&#8221;1100px&#8221; content_max_width_last_edited=&#8221;off|desktop&#8221; _builder_version=&#8221;4.25.0&#8243; header_level=&#8221;h1&#8243; header_font=&#8221;Montserrat||||||||&#8221; header_text_color=&#8221;#000000&#8243; header_font_size=&#8221;29px&#8221; header_line_height=&#8221;1.4em&#8221; body_font=&#8221;||||||||&#8221; body_font_size=&#8221;15px&#8221; body_line_height=&#8221;1.8em&#8221; image_icon_custom_margin=&#8221;6px||||false|false&#8221; background_layout=&#8221;dark&#8221; custom_margin=&#8221;|||&#8221; custom_padding=&#8221;||14px||false|false&#8221; animation_style=&#8221;slide&#8221; animation_direction=&#8221;right&#8221; animation_intensity_slide=&#8221;10%&#8221; animation=&#8221;off&#8221; image_max_width=&#8221;64px&#8221; global_colors_info=&#8221;{}&#8221;][\/et_pb_blurb][\/et_pb_column][\/et_pb_row][\/et_pb_section][et_pb_section fb_built=&#8221;1&#8243; _builder_version=&#8221;4.23.4&#8243; _module_preset=&#8221;default&#8221; background_color=&#8221;rgba(175,218,249,0.18)&#8221; custom_padding=&#8221;0px||0px||false|false&#8221; da_disable_devices=&#8221;off|off|off&#8221; global_colors_info=&#8221;{}&#8221; da_is_popup=&#8221;off&#8221; da_exit_intent=&#8221;off&#8221; da_has_close=&#8221;on&#8221; da_alt_close=&#8221;off&#8221; da_dark_close=&#8221;off&#8221; da_not_modal=&#8221;on&#8221; da_is_singular=&#8221;off&#8221; da_with_loader=&#8221;off&#8221; da_has_shadow=&#8221;on&#8221;][et_pb_row column_structure=&#8221;1_4,3_4&#8243; _builder_version=&#8221;4.23.4&#8243; _module_preset=&#8221;default&#8221; hover_enabled=&#8221;0&#8243; global_colors_info=&#8221;{}&#8221; sticky_enabled=&#8221;0&#8243;][et_pb_column type=&#8221;1_4&#8243; _builder_version=&#8221;4.23.4&#8243; _module_preset=&#8221;default&#8221; global_colors_info=&#8221;{}&#8221;][et_pb_image src=&#8221;https:\/\/www.cbm.uam.es\/wp-content\/uploads\/2025\/07\/202.jpg&#8221; title_text=&#8221;202&#8243; align=&#8221;right&#8221; module_class=&#8221;roundedImg&#8221; _builder_version=&#8221;4.27.4&#8243; _module_preset=&#8221;default&#8221; hover_enabled=&#8221;0&#8243; global_colors_info=&#8221;{}&#8221; sticky_enabled=&#8221;0&#8243;][\/et_pb_image][\/et_pb_column][et_pb_column type=&#8221;3_4&#8243; _builder_version=&#8221;4.23.4&#8243; _module_preset=&#8221;default&#8221; global_colors_info=&#8221;{}&#8221;][et_pb_heading title=&#8221;Jose J. Lucas&#8221; _builder_version=&#8221;4.25.0&#8243; _module_preset=&#8221;default&#8221; title_level=&#8221;h3&#8243; title_text_align=&#8221;left&#8221; title_text_color=&#8221;#008C93&#8243; global_colors_info=&#8221;{}&#8221;][\/et_pb_heading][et_pb_text _builder_version=&#8221;4.25.0&#8243; _module_preset=&#8221;default&#8221; custom_margin=&#8221;-27px||||false|false&#8221; link_option_url_new_window=&#8221;on&#8221; global_colors_info=&#8221;{}&#8221;]<\/p>\n<p style=\"text-align: left;\"><a href=\"https:\/\/x.com\/jjlucaslab\" target=\"blank\" rel=\"noopener\"><img decoding=\"async\" src=\"\/wp-content\/uploads\/2024\/01\/ico_twitter.png\" width=\"24\" height=\"25\" style=\"margin-top: -2px; margin-left: -2px;\" alt=\"\" class=\"wp-image-277817 alignleft size-full\"><\/a><br \/><a href=\"https:\/\/orcid.org\/0000-0003-1597-3916\" target=\"blank\" rel=\"noopener\">ORCID<\/a><\/p>\n<p>[\/et_pb_text][\/et_pb_column][\/et_pb_row][\/et_pb_section][et_pb_section fb_built=&#8221;1&#8243; _builder_version=&#8221;4.23.4&#8243; _module_preset=&#8221;default&#8221; background_color=&#8221;#13B5BD&#8221; custom_margin=&#8221;0px||0px||false|false&#8221; custom_padding=&#8221;0px||0px||false|false&#8221; da_disable_devices=&#8221;off|off|off&#8221; global_colors_info=&#8221;{}&#8221; da_is_popup=&#8221;off&#8221; da_exit_intent=&#8221;off&#8221; da_has_close=&#8221;on&#8221; da_alt_close=&#8221;off&#8221; da_dark_close=&#8221;off&#8221; da_not_modal=&#8221;on&#8221; da_is_singular=&#8221;off&#8221; da_with_loader=&#8221;off&#8221; da_has_shadow=&#8221;on&#8221;][et_pb_row column_structure=&#8221;1_3,1_3,1_3&#8243; _builder_version=&#8221;4.23.4&#8243; _module_preset=&#8221;default&#8221; global_colors_info=&#8221;{}&#8221;][et_pb_column type=&#8221;1_3&#8243; _builder_version=&#8221;4.23.4&#8243; _module_preset=&#8221;default&#8221; global_colors_info=&#8221;{}&#8221;][et_pb_button button_url=&#8221;#investiga&#8221; button_text=&#8221;Investigaci\u00f3n&#8221; button_alignment=&#8221;center&#8221; _builder_version=&#8221;4.25.0&#8243; _module_preset=&#8221;default&#8221; custom_button=&#8221;on&#8221; button_bg_color=&#8221;#34609B&#8221; animation_style=&#8221;zoom&#8221; global_colors_info=&#8221;{}&#8221;][\/et_pb_button][\/et_pb_column][et_pb_column type=&#8221;1_3&#8243; _builder_version=&#8221;4.23.4&#8243; _module_preset=&#8221;default&#8221; global_colors_info=&#8221;{}&#8221;][et_pb_button button_url=&#8221;#personal&#8221; button_text=&#8221;Miembros del grupo&#8221; button_alignment=&#8221;center&#8221; _builder_version=&#8221;4.25.0&#8243; _module_preset=&#8221;default&#8221; custom_button=&#8221;on&#8221; button_bg_color=&#8221;#34609B&#8221; custom_padding=&#8221;|44px||44px|false|true&#8221; animation_style=&#8221;zoom&#8221; global_colors_info=&#8221;{}&#8221;][\/et_pb_button][\/et_pb_column][et_pb_column type=&#8221;1_3&#8243; _builder_version=&#8221;4.23.4&#8243; _module_preset=&#8221;default&#8221; global_colors_info=&#8221;{}&#8221;][et_pb_button button_url=&#8221;#publica&#8221; button_text=&#8221;Publicaciones&#8221; button_alignment=&#8221;center&#8221; _builder_version=&#8221;4.25.0&#8243; _module_preset=&#8221;default&#8221; custom_button=&#8221;on&#8221; button_bg_color=&#8221;#34609B&#8221; animation_style=&#8221;zoom&#8221; global_colors_info=&#8221;{}&#8221;][\/et_pb_button][\/et_pb_column][\/et_pb_row][\/et_pb_section][et_pb_section fb_built=&#8221;1&#8243; _builder_version=&#8221;4.23.4&#8243; _module_preset=&#8221;default&#8221; background_enable_image=&#8221;off&#8221; background_size=&#8221;custom&#8221; background_image_height=&#8221;84%&#8221; background_position=&#8221;bottom_right&#8221; custom_margin=&#8221;0px||0px||false|false&#8221; custom_padding=&#8221;0px||15px||false|false&#8221; da_disable_devices=&#8221;off|off|off&#8221; global_colors_info=&#8221;{}&#8221; da_is_popup=&#8221;off&#8221; da_exit_intent=&#8221;off&#8221; da_has_close=&#8221;on&#8221; da_alt_close=&#8221;off&#8221; da_dark_close=&#8221;off&#8221; da_not_modal=&#8221;on&#8221; da_is_singular=&#8221;off&#8221; da_with_loader=&#8221;off&#8221; da_has_shadow=&#8221;on&#8221;][et_pb_row column_structure=&#8221;1_2,1_2&#8243; use_custom_gutter=&#8221;on&#8221; gutter_width=&#8221;2&#8243; _builder_version=&#8221;4.23.4&#8243; _module_preset=&#8221;default&#8221; custom_margin=&#8221;20px||||false|false&#8221; custom_padding=&#8221;||||false|false&#8221; global_colors_info=&#8221;{}&#8221;][et_pb_column type=&#8221;1_2&#8243; _builder_version=&#8221;4.23.4&#8243; _module_preset=&#8221;default&#8221; global_colors_info=&#8221;{}&#8221;][et_pb_text admin_label=&#8221;resumen&#8221; module_id=&#8221;resumen&#8221; module_class=&#8221;resumen&#8221; _builder_version=&#8221;4.27.4&#8243; _module_preset=&#8221;default&#8221; text_font_size=&#8221;15px&#8221; text_line_height=&#8221;1.8em&#8221; background_color=&#8221;#f1f8fe&#8221; custom_padding=&#8221;20px|20px|20px|20px|true|false&#8221; border_width_top=&#8221;1px&#8221; border_color_top=&#8221;#008C93&#8243; border_width_bottom=&#8221;1px&#8221; border_color_bottom=&#8221;#008C93&#8243; global_colors_info=&#8221;{}&#8221;]<\/p>\n<p style=\"text-align: justify;\">Estudiamos las bases moleculares de las enfermedades cerebrales con el fin de desarrollar curas. Gran parte de nuestro trabajo estudia la enfermedad de Huntington como enfermedad paradigm\u00e1tica con una causa conocida (una mutaci\u00f3n), lo que nos permite generar ratones transg\u00e9nicos en los que estudiar el curso de la enfermedad. Esto ha revelado procesos moleculares tambi\u00e9n alterados en muchas otras enfermedades cerebrales, como errores en el procesamiento del ARN (splicing y poliadenilaci\u00f3n).  <\/p>\n<p>[\/et_pb_text][\/et_pb_column][et_pb_column type=&#8221;1_2&#8243; _builder_version=&#8221;4.23.4&#8243; _module_preset=&#8221;default&#8221; custom_padding=&#8221;||||false|false&#8221; global_colors_info=&#8221;{}&#8221;][et_pb_image src=&#8221;data:image\/svg+xml;base64,PHN2ZyB3aWR0aD0iMTA4MCIgaGVpZ2h0PSI1NDAiIHZpZXdCb3g9IjAgMCAxMDgwIDU0MCIgeG1sbnM9Imh0dHA6Ly93d3cudzMub3JnLzIwMDAvc3ZnIj4KICAgIDxnIGZpbGw9Im5vbmUiIGZpbGwtcnVsZT0iZXZlbm9kZCI+CiAgICAgICAgPHBhdGggZmlsbD0iI0VCRUJFQiIgZD0iTTAgMGgxMDgwdjU0MEgweiIvPgogICAgICAgIDxwYXRoIGQ9Ik00NDUuNjQ5IDU0MGgtOTguOTk1TDE0NC42NDkgMzM3Ljk5NSAwIDQ4Mi42NDR2LTk4Ljk5NWwxMTYuMzY1LTExNi4zNjVjMTUuNjItMTUuNjIgNDAuOTQ3LTE1LjYyIDU2LjU2OCAwTDQ0NS42NSA1NDB6IiBmaWxsLW9wYWNpdHk9Ii4xIiBmaWxsPSIjMDAwIiBmaWxsLXJ1bGU9Im5vbnplcm8iLz4KICAgICAgICA8Y2lyY2xlIGZpbGwtb3BhY2l0eT0iLjA1IiBmaWxsPSIjMDAwIiBjeD0iMzMxIiBjeT0iMTQ4IiByPSI3MCIvPgogICAgICAgIDxwYXRoIGQ9Ik0xMDgwIDM3OXYxMTMuMTM3TDcyOC4xNjIgMTQwLjMgMzI4LjQ2MiA1NDBIMjE1LjMyNEw2OTkuODc4IDU1LjQ0NmMxNS42Mi0xNS42MiA0MC45NDgtMTUuNjIgNTYuNTY4IDBMMTA4MCAzNzl6IiBmaWxsLW9wYWNpdHk9Ii4yIiBmaWxsPSIjMDAwIiBmaWxsLXJ1bGU9Im5vbnplcm8iLz4KICAgIDwvZz4KPC9zdmc+Cg==&#8221; title_text=&#8221; &#8221; _builder_version=&#8221;4.25.0&#8243; _module_preset=&#8221;default&#8221; animation_style=&#8221;zoom&#8221; global_colors_info=&#8221;{}&#8221;][\/et_pb_image][\/et_pb_column][\/et_pb_row][et_pb_row column_structure=&#8221;3_5,2_5&#8243; _builder_version=&#8221;4.23.4&#8243; _module_preset=&#8221;default&#8221; custom_margin=&#8221;||||false|false&#8221; custom_padding=&#8221;0px||||false|false&#8221; global_colors_info=&#8221;{}&#8221;][et_pb_column type=&#8221;3_5&#8243; _builder_version=&#8221;4.23.4&#8243; _module_preset=&#8221;default&#8221; global_colors_info=&#8221;{}&#8221;][et_pb_heading title=&#8221;Investigaci\u00f3n&#8221; module_id=&#8221;investiga&#8221; _builder_version=&#8221;4.25.0&#8243; _module_preset=&#8221;default&#8221; custom_margin=&#8221;0px|||0px|false|false&#8221; custom_padding=&#8221;3px|||8px|false|false&#8221; border_width_left=&#8221;6px&#8221; border_color_left=&#8221;#34609B&#8221; global_colors_info=&#8221;{}&#8221;][\/et_pb_heading][et_pb_text _builder_version=&#8221;4.27.4&#8243; _module_preset=&#8221;default&#8221; global_colors_info=&#8221;{}&#8221;]<\/p>\n<p style=\"text-align: justify;\">Estudiamos los mecanismos moleculares subyacentes a las enfermedades cerebrales generando modelos gen\u00e9ticos de rat\u00f3n, como los modelos HD94 y Tet\/GSK3 de Huntington y Alzheimer, o el modelo TgCPEB4\u03944 (Nature 560:441-446, 2018; Nature 637:496-503, 2025) de autismo idiop\u00e1tico, para validar v\u00edas patog\u00e9nicas y probar nuevas estrategias terap\u00e9uticas.<\/p>\n<p style=\"text-align: justify;\">La enfermedad de Huntington (EH) es una enfermedad neurodegenerativa autos\u00f3mica dominante caracterizada por movimientos involuntarios, s\u00edntomas psiqui\u00e1tricos y demencia. Est\u00e1 causada por una expansi\u00f3n del trinucle\u00f3tido CAG localizado en el gen de la huntingtina. Al caracterizar las interacciones moleculares del ARN y la prote\u00edna mutados, y en particular su impacto sobre las prote\u00ednas de uni\u00f3n al ARN y el procesamiento del ARN, encontramos nuevas pistas sobre la EH y otros trastornos neuronales como el parkinsonismo dist\u00f3nico ligado al cromosoma X (XDP), la epilepsia, el autismo, la esquizofrenia y la esclerosis m\u00faltiple.  <\/p>\n<p>[\/et_pb_text][\/et_pb_column][et_pb_column type=&#8221;2_5&#8243; _builder_version=&#8221;4.23.4&#8243; _module_preset=&#8221;default&#8221; global_colors_info=&#8221;{}&#8221;][et_pb_image src=&#8221;https:\/\/www.cbm.uam.es\/wp-content\/uploads\/2025\/07\/2025-07-04-Grupo-JJLucas-05S-1200px.jpg&#8221; title_text=&#8221;2025-07-04 Grupo JJLucas 05S-1200px&#8221; _builder_version=&#8221;4.27.4&#8243; _module_preset=&#8221;default&#8221; custom_margin=&#8221;60px||||false|false&#8221; custom_padding=&#8221;|||27px||&#8221; animation_style=&#8221;zoom&#8221; hover_enabled=&#8221;0&#8243; border_width_all=&#8221;3px&#8221; border_color_all=&#8221;#13B5BD&#8221; box_shadow_style=&#8221;preset3&#8243; global_colors_info=&#8221;{}&#8221; sticky_enabled=&#8221;0&#8243;][\/et_pb_image][\/et_pb_column][\/et_pb_row][et_pb_row _builder_version=&#8221;4.23.4&#8243; _module_preset=&#8221;default&#8221; custom_padding=&#8221;0px||||false|false&#8221; global_colors_info=&#8221;{}&#8221;][et_pb_column type=&#8221;4_4&#8243; _builder_version=&#8221;4.23.4&#8243; _module_preset=&#8221;default&#8221; global_colors_info=&#8221;{}&#8221;][et_pb_text _builder_version=&#8221;4.27.4&#8243; _module_preset=&#8221;default&#8221; global_colors_info=&#8221;{}&#8221;]<\/p>\n<p style=\"text-align: justify;\">For instance, by characterizing the global mis-splicing signature in HD striatum (Brain 143: 2207-19, 2020 &amp; Brain 144:2009-23, 2021) we found an alteration of tau (the protein that accumulate inside neurons in Alzheimer\u2019s disease). By analyzing transgenic HD mouse models with varying levels of tau we demonstrated that tau contributes to HD pathogenesis and we discovered a new histopathological hallmark, the Tau Nuclear Rods or Tau Nuclear Indentations (Nat Med 20:881-5, 2014).<\/p>\n<p style=\"text-align: justify;\">Characterizing the role of cytoplasmic polyadenylation of mRNAs by CPEBs in HD, we discovered a treatable thiamine deficiency in HD brains (Sci Transl Med 2021 13:eabe7104) which has originated a clinical trial (<a href=\"https:\/\/clinicaltrials.gov\/ct2\/show\/NCT04478734\">https:\/\/clinicaltrials.gov\/ct2\/show\/NCT04478734<\/a>).<\/p>\n<p style=\"text-align: justify;\">We also found that the majority of autism spectrum disorder (ASD) risk genes are targets of CPEB4. In fact, CPEB4 shows an isoform imbalance in individuals with autism due to mis-splicing of a neuronal specific microexon. Accordingly, mice with equivalent CPEB4 imbalance show autism-like phenotype (Nature 560:441-446, 2018; Nature 637:496-503, 2025) and have become a useful model of idiopathic autism.<\/p>\n<p style=\"text-align: justify;\">We have also described alterations of cytoplasmic polyadenylation system in epilepsy (Brain 143: 2139-53 2020) and schizophrenia (Biol Psychiatry 94:341-351, 2023).<\/p>\n<p>[\/et_pb_text][\/et_pb_column][\/et_pb_row][\/et_pb_section][et_pb_section fb_built=&#8221;1&#8243; _builder_version=&#8221;4.23.4&#8243; _module_preset=&#8221;default&#8221; background_color=&#8221;rgba(0,0,0,0.04)&#8221; da_disable_devices=&#8221;off|off|off&#8221; global_colors_info=&#8221;{}&#8221; da_is_popup=&#8221;off&#8221; da_exit_intent=&#8221;off&#8221; da_has_close=&#8221;on&#8221; da_alt_close=&#8221;off&#8221; da_dark_close=&#8221;off&#8221; da_not_modal=&#8221;on&#8221; da_is_singular=&#8221;off&#8221; da_with_loader=&#8221;off&#8221; da_has_shadow=&#8221;on&#8221;][et_pb_row _builder_version=&#8221;4.23.4&#8243; _module_preset=&#8221;default&#8221; global_colors_info=&#8221;{}&#8221;][et_pb_column type=&#8221;4_4&#8243; _builder_version=&#8221;4.23.4&#8243; _module_preset=&#8221;default&#8221; global_colors_info=&#8221;{}&#8221;][et_pb_heading title=&#8221;Miembros del grupo&#8221; module_id=&#8221;personal&#8221; _builder_version=&#8221;4.25.0&#8243; _module_preset=&#8221;default&#8221; custom_margin=&#8221;0px|||0px|false|false&#8221; custom_padding=&#8221;3px|||8px|false|false&#8221; border_width_left=&#8221;6px&#8221; border_color_left=&#8221;#34609B&#8221; global_colors_info=&#8221;{}&#8221;][\/et_pb_heading][\/et_pb_column][\/et_pb_row][et_pb_row _builder_version=&#8221;4.27.4&#8243; _module_preset=&#8221;default&#8221; max_width=&#8221;2560px&#8221; global_colors_info=&#8221;{}&#8221;][et_pb_column type=&#8221;4_4&#8243; _builder_version=&#8221;4.25.0&#8243; _module_preset=&#8221;default&#8221; global_colors_info=&#8221;{}&#8221;][et_pb_code _builder_version=&#8221;4.27.4&#8243; _module_preset=&#8221;default&#8221; global_colors_info=&#8221;{}&#8221;][et_pb_row _builder_version=\"4.25.0\" _module_preset=\"default\" column_structure=\"1_4,1_4,1_4,1_4\" hover_enabled=\"0\" sticky_enabled=\"0\"][et_pb_column _builder_version=\"4.25.0\" _module_preset=\"default\" type=\"1_4\"][et_pb_blurb title=\"Jos\u00e9 Javier Lucas Lozano\" image=\"\/imgs\/202.jpg\" _builder_version=\"4.25.0\" _module_preset=\"default\" header_text_align=\"center\" body_text_align=\"center\" global_colors_info=\"{}\" theme_builder_area=\"post_content\" module_class=\"roundedImg\"]<p>Lab.: 209 Ext.: 4552<br \/>jjlucas(at)cbm.csic.es<\/p>[\/et_pb_blurb][\/et_pb_column][et_pb_column _builder_version=\"4.25.0\" _module_preset=\"default\" type=\"1_4\"][et_pb_blurb title=\"Miriam Lucas Santamar\u00eda\" image=\"\/imgs\/1343.jpg\" _builder_version=\"4.25.0\" _module_preset=\"default\" header_text_align=\"center\" body_text_align=\"center\" global_colors_info=\"{}\" theme_builder_area=\"post_content\" module_class=\"roundedImg\"]<p>Lab.: 209 Ext.: 4582<br \/>mmlucas(at)cbm.csic.es<\/p>[\/et_pb_blurb][\/et_pb_column][et_pb_column _builder_version=\"4.25.0\" _module_preset=\"default\" type=\"1_4\"][et_pb_blurb title=\"Julia Pose Utrilla\" image=\"\/imgs\/5690.jpg\" _builder_version=\"4.25.0\" _module_preset=\"default\" header_text_align=\"center\" body_text_align=\"center\" global_colors_info=\"{}\" theme_builder_area=\"post_content\" module_class=\"roundedImg\"]<p>Lab.: 209 Ext.: 4582<br \/>jpose(at)cbm.csic.es<\/p>[\/et_pb_blurb][\/et_pb_column][et_pb_column _builder_version=\"4.25.0\" _module_preset=\"default\" type=\"1_4\"][et_pb_blurb title=\"Claudia Ortega Salgado\" image=\"\/imgs\/5802.jpg\" _builder_version=\"4.25.0\" _module_preset=\"default\" header_text_align=\"center\" body_text_align=\"center\" global_colors_info=\"{}\" theme_builder_area=\"post_content\" module_class=\"roundedImg\"]<p>Lab.: 209 Ext.: 4582<br \/><\/p>[\/et_pb_blurb][\/et_pb_column][\/et_pb_row][et_pb_row _builder_version=\"4.25.0\" _module_preset=\"default\" column_structure=\"1_4,1_4,1_4,1_4\" hover_enabled=\"0\" sticky_enabled=\"0\"][et_pb_column _builder_version=\"4.25.0\" _module_preset=\"default\" type=\"1_4\"][et_pb_blurb title=\"Avetik Arsen Khachatryan Boyajyan\" image=\"\/imgs\/5809.jpg\" _builder_version=\"4.25.0\" _module_preset=\"default\" header_text_align=\"center\" body_text_align=\"center\" global_colors_info=\"{}\" theme_builder_area=\"post_content\" module_class=\"roundedImg\"]<p>Lab.: 209 Ext.: 4582<br \/>avetik.khachatryan(at)cbm.csic.es<\/p>[\/et_pb_blurb][\/et_pb_column][et_pb_column _builder_version=\"4.25.0\" _module_preset=\"default\" type=\"1_4\"][et_pb_blurb title=\"Alejandra Mar\u00eda Arroyo Garc\u00eda\" image=\"\/imgs\/5862.jpg\" _builder_version=\"4.25.0\" _module_preset=\"default\" header_text_align=\"center\" body_text_align=\"center\" global_colors_info=\"{}\" theme_builder_area=\"post_content\" module_class=\"roundedImg\"]<p>Lab.: 209 Ext.: 4582<br \/>amarroyo(at)cbm.csic.es<\/p>[\/et_pb_blurb][\/et_pb_column][et_pb_column _builder_version=\"4.25.0\" _module_preset=\"default\" type=\"1_4\"][et_pb_blurb title=\"Sandra Garc\u00eda  Pereira\" image=\"\/imgs\/6135.jpg\" _builder_version=\"4.25.0\" _module_preset=\"default\" header_text_align=\"center\" body_text_align=\"center\" global_colors_info=\"{}\" theme_builder_area=\"post_content\" module_class=\"roundedImg\"]<p>Lab.: 209 Ext.: 4582<br \/>sagap(at)cbm.csic.es<\/p>[\/et_pb_blurb][\/et_pb_column][et_pb_column _builder_version=\"4.25.0\" _module_preset=\"default\" type=\"1_4\"][et_pb_blurb title=\"Carlos Costas Insua\" image=\"\/imgs\/6172.jpg\" _builder_version=\"4.25.0\" _module_preset=\"default\" header_text_align=\"center\" body_text_align=\"center\" global_colors_info=\"{}\" theme_builder_area=\"post_content\" module_class=\"roundedImg\"]<p>Lab.: 209 Ext.: 4582<br \/>carlos.costas(at)cbm.csic.es<\/p>[\/et_pb_blurb][\/et_pb_column][\/et_pb_row][et_pb_row _builder_version=\"4.25.0\" _module_preset=\"default\" column_structure=\"1_4,1_4,1_4,1_4\" hover_enabled=\"0\" sticky_enabled=\"0\"][et_pb_column _builder_version=\"4.25.0\" _module_preset=\"default\" type=\"1_4\"][et_pb_blurb title=\"Fabio Desideri \" image=\"\/imgs\/6197.jpg\" _builder_version=\"4.25.0\" _module_preset=\"default\" header_text_align=\"center\" body_text_align=\"center\" global_colors_info=\"{}\" theme_builder_area=\"post_content\" module_class=\"roundedImg\"]<p>Lab.: 209 Ext.: 4582<br \/>fabio.desideri(at)cbm.csic.es<\/p>[\/et_pb_blurb][\/et_pb_column][\/et_pb_row][\/et_pb_code][\/et_pb_column][\/et_pb_row][\/et_pb_section][et_pb_section fb_built=&#8221;1&#8243; _builder_version=&#8221;4.23.4&#8243; _module_preset=&#8221;default&#8221; background_color=&#8221;RGBA(255,255,255,0)&#8221; da_disable_devices=&#8221;off|off|off&#8221; global_colors_info=&#8221;{}&#8221; da_is_popup=&#8221;off&#8221; da_exit_intent=&#8221;off&#8221; da_has_close=&#8221;on&#8221; da_alt_close=&#8221;off&#8221; da_dark_close=&#8221;off&#8221; da_not_modal=&#8221;on&#8221; da_is_singular=&#8221;off&#8221; da_with_loader=&#8221;off&#8221; da_has_shadow=&#8221;on&#8221;][et_pb_row _builder_version=&#8221;4.23.4&#8243; _module_preset=&#8221;default&#8221; global_colors_info=&#8221;{}&#8221;][et_pb_column type=&#8221;4_4&#8243; _builder_version=&#8221;4.23.4&#8243; _module_preset=&#8221;default&#8221; global_colors_info=&#8221;{}&#8221;][et_pb_heading title=&#8221;Publicaciones representativas&#8221; module_id=&#8221;personal&#8221; _builder_version=&#8221;4.25.0&#8243; _module_preset=&#8221;default&#8221; custom_margin=&#8221;0px|||0px|false|false&#8221; custom_padding=&#8221;3px|||8px|false|false&#8221; border_width_left=&#8221;6px&#8221; border_color_left=&#8221;#34609B&#8221; global_colors_info=&#8221;{}&#8221;][\/et_pb_heading][\/et_pb_column][\/et_pb_row][et_pb_row column_structure=&#8221;1_4,1_4,1_4,1_4&#8243; _builder_version=&#8221;4.23.4&#8243; _module_preset=&#8221;default&#8221; animation_style=&#8221;zoom&#8221; global_colors_info=&#8221;{}&#8221;][et_pb_column type=&#8221;1_4&#8243; _builder_version=&#8221;4.23.4&#8243; _module_preset=&#8221;default&#8221; global_colors_info=&#8221;{}&#8221;][et_pb_image src=&#8221;https:\/\/www.cbm.uam.es\/wp-content\/uploads\/2024\/06\/1-Imagen-Jose-Lucas-Lab-209.png&#8221; title_text=&#8221; &#8221; url_new_window=&#8221;on&#8221; _builder_version=&#8221;4.25.0&#8243; _module_preset=&#8221;default&#8221; global_colors_info=&#8221;{}&#8221;][\/et_pb_image][\/et_pb_column][et_pb_column type=&#8221;1_4&#8243; _builder_version=&#8221;4.25.0&#8243; _module_preset=&#8221;default&#8221; global_colors_info=&#8221;{}&#8221;][et_pb_text _builder_version=&#8221;4.25.0&#8243; _module_preset=&#8221;default&#8221; link_option_url=&#8221;https:\/\/pubmed.ncbi.nlm.nih.gov\/34586830\/&#8221; link_option_url_new_window=&#8221;on&#8221; global_colors_info=&#8221;{}&#8221;]<\/p>\n<h3>CPEB alteration and aberrant transcriptome-polyadenylation lead to a treatable SLC19A3 deficiency in Huntington&#8217;s disease<\/h3>\n<p>Sara Pic\u00f3 et al.<\/p>\n<p>[\/et_pb_text][\/et_pb_column][et_pb_column type=&#8221;1_4&#8243; _builder_version=&#8221;4.23.4&#8243; _module_preset=&#8221;default&#8221; global_colors_info=&#8221;{}&#8221;][et_pb_image src=&#8221;https:\/\/www.cbm.uam.es\/wp-content\/uploads\/2024\/06\/2-Imagen-Jose-Lucas-Lab-209.png&#8221; title_text=&#8221; &#8221; url_new_window=&#8221;on&#8221; _builder_version=&#8221;4.25.0&#8243; _module_preset=&#8221;default&#8221; global_colors_info=&#8221;{}&#8221;][\/et_pb_image][\/et_pb_column][et_pb_column type=&#8221;1_4&#8243; _builder_version=&#8221;4.25.0&#8243; _module_preset=&#8221;default&#8221; global_colors_info=&#8221;{}&#8221;][et_pb_text _builder_version=&#8221;4.25.0&#8243; _module_preset=&#8221;default&#8221; link_option_url=&#8221;https:\/\/pubmed.ncbi.nlm.nih.gov\/33725094\/&#8221; link_option_url_new_window=&#8221;on&#8221; global_colors_info=&#8221;{}&#8221;]<\/p>\n<h3>Huntington&#8217;s disease-specific mis-splicing unveils key effector genes and altered splicing factors<\/h3>\n<p>Ainara Elorza et al.<\/p>\n<p>[\/et_pb_text][\/et_pb_column][\/et_pb_row][et_pb_row column_structure=&#8221;1_4,1_4,1_4,1_4&#8243; _builder_version=&#8221;4.23.4&#8243; _module_preset=&#8221;default&#8221; animation_style=&#8221;zoom&#8221; global_colors_info=&#8221;{}&#8221;][et_pb_column type=&#8221;1_4&#8243; _builder_version=&#8221;4.23.4&#8243; _module_preset=&#8221;default&#8221; global_colors_info=&#8221;{}&#8221;][et_pb_image src=&#8221;https:\/\/www.cbm.uam.es\/wp-content\/uploads\/2024\/06\/3-Imagen-Jose-Lucas-Lab-209.png&#8221; title_text=&#8221; &#8221; url_new_window=&#8221;on&#8221; _builder_version=&#8221;4.25.0&#8243; _module_preset=&#8221;default&#8221; global_colors_info=&#8221;{}&#8221;][\/et_pb_image][\/et_pb_column][et_pb_column type=&#8221;1_4&#8243; _builder_version=&#8221;4.25.0&#8243; _module_preset=&#8221;default&#8221; global_colors_info=&#8221;{}&#8221;][et_pb_text _builder_version=&#8221;4.25.0&#8243; _module_preset=&#8221;default&#8221; link_option_url=&#8221;https:\/\/pubmed.ncbi.nlm.nih.gov\/30111840\/&#8221; link_option_url_new_window=&#8221;on&#8221; global_colors_info=&#8221;{}&#8221;]<\/p>\n<h3>Autism-like phenotype and risk gene mRNA deadenylation by CPEB4 mis-splicing<\/h3>\n<p>Alberto Parras et al.<\/p>\n<p>[\/et_pb_text][\/et_pb_column][et_pb_column type=&#8221;1_4&#8243; _builder_version=&#8221;4.23.4&#8243; _module_preset=&#8221;default&#8221; global_colors_info=&#8221;{}&#8221;][et_pb_image src=&#8221;data:image\/svg+xml;base64,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&#8221; 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