{"id":279392,"date":"2024-07-12T12:31:58","date_gmt":"2024-07-12T10:31:58","guid":{"rendered":"https:\/\/dhcp205002.cbm.uam.es\/?page_id=279392"},"modified":"2026-03-13T08:02:11","modified_gmt":"2026-03-13T07:02:11","slug":"estudios-fisiopatologicos-y-desarrollo-de-terapias-en-modelos-animales-y-celulares-de-enfermedades-neurometabolicas","status":"publish","type":"page","link":"https:\/\/www.cbm.uam.es\/index.php\/programas-cientificos\/procesos-fisiologicos-y-patologicos\/redes-metabolicas-y-senalizadoras-en-la-enfermedad\/estudios-fisiopatologicos-y-desarrollo-de-terapias-en-modelos-animales-y-celulares-de-enfermedades-neurometabolicas\/?lang=es","title":{"rendered":"Estudios fisiopatol\u00f3gicos y desarrollo de terapias en modelos animales y celulares de enfermedades neurometab\u00f3licas"},"content":{"rendered":"

[et_pb_section fb_built=”1″ _builder_version=”4.27.0″ _module_preset=”default” background_color=”#34609B” background_image=”https:\/\/www.cbm.uam.es\/wp-content\/uploads\/2024\/07\/iStock-2152092852small.jpg” background_position=”bottom_center” background_vertical_offset=”32%” min_height=”352px” height=”294px” da_disable_devices=”off|off|off” global_colors_info=”{}” da_is_popup=”off” da_exit_intent=”off” da_has_close=”on” da_alt_close=”off” da_dark_close=”off” da_not_modal=”on” da_is_singular=”off” da_with_loader=”off” da_has_shadow=”on”][et_pb_row column_structure=”2_5,3_5″ use_custom_gutter=”on” gutter_width=”4″ _builder_version=”4.23.4″ _module_preset=”default” background_color=”RGBA(255,255,255,0)” custom_margin=”61px||||false|false” custom_padding=”||0px|||” global_colors_info=”{}”][et_pb_column type=”2_5″ _builder_version=”4.23.4″ _module_preset=”default” background_color=”rgba(52,96,155,0.83)” custom_padding=”50px||50px|50px|false|false” border_radii=”on|15px|15px|15px|15px” global_colors_info=”{}”][et_pb_text _builder_version=”4.25.0″ _module_preset=”default” text_text_color=”#FFFFFF” custom_margin=”0px||10px||false|false” custom_padding=”0px||0px||false|false” global_colors_info=”{}”]<\/p>\n

Programa Cient\u00edfico<\/p>\n

[\/et_pb_text][et_pb_heading title=”Procesos fisiol\u00f3gicos y patol\u00f3gicos” _builder_version=”4.25.0″ _module_preset=”default” title_font=”Montserrat||||||||” title_text_color=”#FFFFFF” title_font_size=”43px” global_colors_info=”{}”][\/et_pb_heading][\/et_pb_column][et_pb_column type=”3_5″ _builder_version=”4.23.4″ _module_preset=”default” custom_padding=”157px||||false|false” global_colors_info=”{}”][et_pb_text _builder_version=”4.25.0″ _module_preset=”default” global_colors_info=”{}”]<\/p>\n

UNIDADES EN ESTE PROGRAMA
\n<\/span><\/h4>\n
\n

\nNeuropatolog\u00eda molecular<\/a><\/span> Redes metab\u00f3licas y se\u00f1alizadoras en la enfermedad<\/a><\/span><\/h6>\n

[\/et_pb_text][\/et_pb_column][\/et_pb_row][\/et_pb_section][et_pb_section fb_built=”1″ _builder_version=”4.23.4″ _module_preset=”default” background_enable_image=”off” background_size=”custom” background_image_height=”84%” background_position=”bottom_right” custom_margin=”||0px||false|false” custom_padding=”||0px||false|false” da_disable_devices=”off|off|off” global_colors_info=”{}” da_is_popup=”off” da_exit_intent=”off” da_has_close=”on” da_alt_close=”off” da_dark_close=”off” da_not_modal=”on” da_is_singular=”off” da_with_loader=”off” da_has_shadow=”on”][et_pb_row _builder_version=”4.23.4″ _module_preset=”default” custom_margin=”||0px||false|false” custom_padding=”||0px||false|false” global_colors_info=”{}”][et_pb_column type=”4_4″ _builder_version=”4.23.4″ _module_preset=”default” global_colors_info=”{}”][et_pb_heading title=”GRUPO DE INVESTIGACI\u00d3N” _builder_version=”4.25.0″ _module_preset=”default” title_level=”h5″ title_text_color=”#13B5BD” custom_margin=”50px||0px||false|false” global_colors_info=”{}”][\/et_pb_heading][et_pb_blurb title=”Estudios fisiopatol\u00f3gicos y desarrollo de terapias en modelos animales y celulares de enfermedades neurometab\u00f3licas” use_icon=”on” font_icon=”||divi||400″ icon_color=”#13B5BD” icon_placement=”left” image_icon_width=”26px” content_max_width=”1100px” content_max_width_tablet=”1100px” content_max_width_last_edited=”off|desktop” _builder_version=”4.25.0″ header_level=”h1″ header_font=”Montserrat||||||||” header_text_color=”#000000″ header_font_size=”29px” header_line_height=”1.4em” body_font=”||||||||” body_font_size=”15px” body_line_height=”1.8em” image_icon_custom_margin=”6px||||false|false” background_layout=”dark” custom_margin=”|||” custom_padding=”||14px||false|false” animation_style=”slide” animation_direction=”right” animation_intensity_slide=”10%” animation=”off” image_max_width=”64px” global_colors_info=”{}”][\/et_pb_blurb][\/et_pb_column][\/et_pb_row][\/et_pb_section][et_pb_section fb_built=”1″ _builder_version=”4.23.4″ _module_preset=”default” background_color=”rgba(175,218,249,0.18)” custom_padding=”0px||0px||false|false” da_disable_devices=”off|off|off” global_colors_info=”{}” da_is_popup=”off” da_exit_intent=”off” da_has_close=”on” da_alt_close=”off” da_dark_close=”off” da_not_modal=”on” da_is_singular=”off” da_with_loader=”off” da_has_shadow=”on”][et_pb_row column_structure=”1_4,1_4,1_4,1_4″ _builder_version=”4.23.4″ _module_preset=”default” global_colors_info=”{}”][et_pb_column type=”1_4″ _builder_version=”4.23.4″ _module_preset=”default” global_colors_info=”{}”][et_pb_image src=”\/imgs\/110.jpg” title_text=”logoRecurso 7″ align=”right” module_class=”roundedImg” _builder_version=”4.27.0″ _module_preset=”default” global_colors_info=”{}”][\/et_pb_image][\/et_pb_column][et_pb_column type=”1_4″ _builder_version=”4.23.4″ _module_preset=”default” global_colors_info=”{}”][et_pb_heading title=”Lourdes Ruiz Desviat” _builder_version=”4.25.0″ _module_preset=”default” title_level=”h3″ title_text_align=”left” title_text_color=”#008C93″ global_colors_info=”{}”][\/et_pb_heading][et_pb_text _builder_version=”4.25.2″ _module_preset=”default” custom_margin=”-27px||||false|false” link_option_url_new_window=”on” global_colors_info=”{}”]<\/p>\n

\"\"<\/span><\/a>\"\"<\/span><\/a>\"\"<\/span><\/a>
\nORCID<\/a><\/p>\n

[\/et_pb_text][\/et_pb_column][et_pb_column type=”1_4″ _builder_version=”4.23.4″ _module_preset=”default” global_colors_info=”{}”][et_pb_image src=”\/imgs\/691.jpg” title_text=”logoRecurso 7″ align=”right” module_class=”roundedImg” _builder_version=”4.27.0″ _module_preset=”default” global_colors_info=”{}”][\/et_pb_image][\/et_pb_column][et_pb_column type=”1_4″ _builder_version=”4.23.4″ _module_preset=”default” global_colors_info=”{}”][et_pb_heading title=”Eva Richard” _builder_version=”4.25.0″ _module_preset=”default” title_level=”h3″ title_text_align=”left” title_text_color=”#008C93″ global_colors_info=”{}”][\/et_pb_heading][et_pb_text _builder_version=”4.25.2″ _module_preset=”default” custom_margin=”-27px||||false|false” link_option_url_new_window=”on” locked=”off” global_colors_info=”{}”]<\/p>\n

\"\"<\/span><\/a>\"\"<\/span><\/a>\"\"<\/span><\/a>
\nORCID<\/a><\/p>\n

[\/et_pb_text][\/et_pb_column][\/et_pb_row][\/et_pb_section][et_pb_section fb_built=”1″ _builder_version=”4.23.4″ _module_preset=”default” background_color=”#13B5BD” custom_margin=”0px||0px||false|false” custom_padding=”0px||0px||false|false” da_disable_devices=”off|off|off” global_colors_info=”{}” da_is_popup=”off” da_exit_intent=”off” da_has_close=”on” da_alt_close=”off” da_dark_close=”off” da_not_modal=”on” da_is_singular=”off” da_with_loader=”off” da_has_shadow=”on”][et_pb_row column_structure=”1_3,1_3,1_3″ _builder_version=”4.23.4″ _module_preset=”default” global_colors_info=”{}”][et_pb_column type=”1_3″ _builder_version=”4.23.4″ _module_preset=”default” global_colors_info=”{}”][et_pb_button button_url=”#investiga” button_text=”Investigaci\u00f3n” button_alignment=”center” _builder_version=”4.25.0″ _module_preset=”default” custom_button=”on” button_bg_color=”#34609B” animation_style=”zoom” global_colors_info=”{}”][\/et_pb_button][\/et_pb_column][et_pb_column type=”1_3″ _builder_version=”4.23.4″ _module_preset=”default” global_colors_info=”{}”][et_pb_button button_url=”#personal” button_text=”Miembros del grupo” button_alignment=”center” _builder_version=”4.25.0″ _module_preset=”default” custom_button=”on” button_bg_color=”#34609B” custom_padding=”|44px||44px|false|true” animation_style=”zoom” global_colors_info=”{}”][\/et_pb_button][\/et_pb_column][et_pb_column type=”1_3″ _builder_version=”4.23.4″ _module_preset=”default” global_colors_info=”{}”][et_pb_button button_url=”#publica” button_text=”Publicaciones” button_alignment=”center” _builder_version=”4.25.0″ _module_preset=”default” custom_button=”on” button_bg_color=”#34609B” animation_style=”zoom” global_colors_info=”{}”][\/et_pb_button][\/et_pb_column][\/et_pb_row][\/et_pb_section][et_pb_section fb_built=”1″ _builder_version=”4.23.4″ _module_preset=”default” background_enable_image=”off” background_size=”custom” background_image_height=”84%” background_position=”bottom_right” custom_margin=”0px||0px||false|false” custom_padding=”0px||15px||false|false” da_disable_devices=”off|off|off” global_colors_info=”{}” da_is_popup=”off” da_exit_intent=”off” da_has_close=”on” da_alt_close=”off” da_dark_close=”off” da_not_modal=”on” da_is_singular=”off” da_with_loader=”off” da_has_shadow=”on”][et_pb_row column_structure=”1_2,1_2″ use_custom_gutter=”on” gutter_width=”2″ _builder_version=”4.23.4″ _module_preset=”default” custom_margin=”20px||||false|false” custom_padding=”||||false|false” global_colors_info=”{}”][et_pb_column type=”1_2″ _builder_version=”4.23.4″ _module_preset=”default” global_colors_info=”{}”][et_pb_text admin_label=”resumen” module_id=”resumen” module_class=”resumen” _builder_version=”4.25.0″ _module_preset=”default” text_font_size=”15px” text_line_height=”1.8em” background_color=”#f1f8fe” custom_padding=”20px|20px|20px|20px|true|false” border_width_top=”1px” border_color_top=”#008C93″ border_width_bottom=”1px” border_color_bottom=”#008C93″ global_colors_info=”{}”]<\/p>\n

Realizamos investigaci\u00f3n traslacional en enfermedades neurometab\u00f3licas raras. Generamos modelos animales y celulares personalizados para estudiar los mecanismos moleculares y fisiopatol\u00f3gicos subyacentes. Nuestro objetivo es desarrollar terapias personalizadas, incluyendo terapias espec\u00edficas de mutaci\u00f3n e intervenciones farmacol\u00f3gicas. Somos expertos en la generaci\u00f3n de iPSCs y en el uso de CRISPR\/Cas9 para modelar enfermedades in vitro e in vivo. <\/p>\n

[\/et_pb_text][\/et_pb_column][et_pb_column type=”1_2″ _builder_version=”4.23.4″ _module_preset=”default” custom_padding=”||||false|false” global_colors_info=”{}”][et_pb_image src=”https:\/\/www.cbm.uam.es\/wp-content\/uploads\/2024\/09\/Figura-web-newER_LRD-horizontal.jpg” title_text=”Imagen representativa del grupo” _builder_version=”4.27.0″ _module_preset=”default” animation_style=”zoom” global_colors_info=”{}”][\/et_pb_image][\/et_pb_column][\/et_pb_row][et_pb_row column_structure=”3_5,2_5″ _builder_version=”4.23.4″ _module_preset=”default” custom_margin=”||||false|false” custom_padding=”0px||||false|false” global_colors_info=”{}”][et_pb_column type=”3_5″ _builder_version=”4.23.4″ _module_preset=”default” global_colors_info=”{}”][et_pb_heading title=”Investigaci\u00f3n” module_id=”investiga” _builder_version=”4.25.0″ _module_preset=”default” custom_margin=”0px|||0px|false|false” custom_padding=”3px|||8px|false|false” border_width_left=”6px” border_color_left=”#34609B” global_colors_info=”{}”][\/et_pb_heading][et_pb_text _builder_version=”4.25.0″ _module_preset=”default” global_colors_info=”{}”]<\/p>\n

El grupo pertenece al CIBER de Enfermedades Raras (CIBERER) y al Instituto de Investigaci\u00f3n Sanitaria Hospital La Paz (IdiPAZ) y colabora activamente con el Centro de Diagn\u00f3stico de Enfermedades Moleculares (CEDEM, Facultad de Ciencias, UAM). Nuestra investigaci\u00f3n se centra en las enfermedades neurometab\u00f3licas, acidemia propi\u00f3nica (AP) e hiperfenilalaninemias (HPAs) entre otras, deficiencias enzim\u00e1ticas de herencia autos\u00f3mica recesiva, caracterizadas por la acumulaci\u00f3n t\u00f3xica de precursores y la falta de metabolitos aguas abajo.
Nuestros proyectos representan la investigaci\u00f3n traslacional con el objetivo de generar y caracterizar modelos animales y celulares relevantes para enfermedades espec\u00edficas, que se utilizar\u00e1n como herramientas de investigaci\u00f3n para comprender los mecanismos moleculares y fisiopatol\u00f3gicos responsables de la enfermedad, analizar biomarcadores potenciales para el pron\u00f3stico y seguimiento e identificar nuevas dianas terap\u00e9uticas. El objetivo \u00faltimo es desarrollar terapias personalizadas, tanto enfoques espec\u00edficos de mutaci\u00f3n, como la edici\u00f3n g\u00e9nica y los oligonucle\u00f3tidos antisentido, como terapias farmacol\u00f3gicas con compuestos antioxidantes y activadores mitocondriales, realizando estudios precl\u00ednicos en los modelos de enfermedad espec\u00edficos. <\/p>\n

[\/et_pb_text][\/et_pb_column][et_pb_column type=”2_5″ _builder_version=”4.23.4″ _module_preset=”default” global_colors_info=”{}”][et_pb_image src=”https:\/\/www.cbm.uam.es\/wp-content\/uploads\/2026\/03\/2026-03-10-Grupo-LRuiz-DesviatEMRichard-01S-1000px.jpg” title_text=”2026-03-10 Grupo LRuiz-Desviat+EMRichard 01S-1000px” _builder_version=”4.27.5″ _module_preset=”default” custom_margin=”60px||||false|false” custom_padding=”|||27px||” animation_style=”zoom” hover_enabled=”0″ border_width_all=”3px” border_color_all=”#13B5BD” box_shadow_style=”preset3″ global_colors_info=”{}” sticky_enabled=”0″][\/et_pb_image][\/et_pb_column][\/et_pb_row][et_pb_row _builder_version=”4.23.4″ _module_preset=”default” custom_padding=”0px||||false|false” global_colors_info=”{}”][et_pb_column type=”4_4″ _builder_version=”4.23.4″ _module_preset=”default” global_colors_info=”{}”][et_pb_text _builder_version=”4.25.0″ _module_preset=”default” global_colors_info=”{}”]<\/p>\n

El grupo de investigaci\u00f3n tiene amplia experiencia en la generaci\u00f3n de iPSCs a partir de fibroblastos de pacientes y su diferenciaci\u00f3n a precursores neuronales, astrocitos y cardiomiocitos, linajes celulares relevantes para las enfermedades en estudio. Tambi\u00e9n hemos utilizado ampliamente la tecnolog\u00eda de edici\u00f3n g\u00e9nica CRISPR\/Cas9 para generar modelos celulares (c\u00e9lulas de hepatoma, iPSCs) y animales (rat\u00f3n) de enfermedad, tanto knock-out como knock-in con mutaciones espec\u00edficas del paciente.
Una l\u00ednea de investigaci\u00f3n implica el an\u00e1lisis de los mecanismos fisiopatol\u00f3gicos subyacentes a la APs, una de las acidemias org\u00e1nicas m\u00e1s frecuentes en la que hemos demostrado, utilizando un modelo de rat\u00f3n, que la disfunci\u00f3n mitocondrial, el estr\u00e9s oxidativo y la desregulaci\u00f3n de miRNAs contribuyen a las complicaciones multiorg\u00e1nicas de la enfermedad. Hemos revelado alteraciones en el mal manejo del Ca2+, asociadas a elevados niveles de ROS y mayor tasa de oxidaci\u00f3n de SERCA2a, junto con la desregulaci\u00f3n de cardiomiRs espec\u00edficos, como mecanismos implicados en el desarrollo de cardiomiopat\u00edas asociadas a APs. Los estudios en cardiomiocitos derivados de iPSCs confirman estas alteraciones, y los cardiomiocitos de AP muestran una excitabilidad celular muy deprimida y un mayor riesgo de arritmias. En astrocitos de AP derivados de iPSCs observamos alteraciones de la funci\u00f3n mitocondrial, desregulaci\u00f3n de miRNAs y astrogliosis. <\/p>\n

A lo largo de muchos a\u00f1os, el grupo ha estudiado la gen\u00e9tica molecular de diferentes enfermedades metab\u00f3licas hereditarias, con un especial \u00e9nfasis en variantes de tipo missense y de splicing. Hemos caracterizado el mecanismo molecular patog\u00e9nico de muchas de estas variantes utilizando diversos sistemas de expresi\u00f3n procariotas y eucariotas y vectores reporteros de splicing denominados minigenes. Hemos desarrollado m\u00e9todos para modular el proceso de splicing utilizando oligonucle\u00f3tidos antisentido, habiendo corregido con \u00e9xito varios defectos de splicing, recuperando niveles normales de prote\u00edna y actividad, en modelos celulares de diferentes enfermedades. En la actualidad hemos implementado el uso de diferentes herramientas de edici\u00f3n g\u00e9nica (CRISPR\/Cas, editores de bases) para corregir permanentemente variantes espec\u00edficas causantes de enfermedades metab\u00f3licas hereditarias, tanto in vitro como in vivo. <\/p>\n

[\/et_pb_text][\/et_pb_column][\/et_pb_row][\/et_pb_section][et_pb_section fb_built=”1″ _builder_version=”4.23.4″ _module_preset=”default” background_color=”rgba(0,0,0,0.04)” da_disable_devices=”off|off|off” global_colors_info=”{}” da_is_popup=”off” da_exit_intent=”off” da_has_close=”on” da_alt_close=”off” da_dark_close=”off” da_not_modal=”on” da_is_singular=”off” da_with_loader=”off” da_has_shadow=”on”][et_pb_row _builder_version=”4.23.4″ _module_preset=”default” global_colors_info=”{}”][et_pb_column type=”4_4″ _builder_version=”4.23.4″ _module_preset=”default” global_colors_info=”{}”][et_pb_heading title=”Miembros del grupo” module_id=”personal” _builder_version=”4.25.0″ _module_preset=”default” custom_margin=”0px|||0px|false|false” custom_padding=”3px|||8px|false|false” border_width_left=”6px” border_color_left=”#34609B” global_colors_info=”{}”][\/et_pb_heading][\/et_pb_column][\/et_pb_row][et_pb_row _builder_version=”4.25.0″ _module_preset=”default” max_width=”2560px” global_colors_info=”{}”][et_pb_column type=”4_4″ _builder_version=”4.25.0″ _module_preset=”default” global_colors_info=”{}”][et_pb_code _builder_version=”4.25.2″ _module_preset=”default” global_colors_info=”{}”][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=\"Lourdes Ruiz Desviat\" image=\"\/imgs\/110.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\"]

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lruiz(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=\"Eva Mar\u00eda Richard Rodr\u00edguez\" image=\"\/imgs\/691.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\"]

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emilio.martinez(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=\"Jos\u00e9 Vicente del \u00c1lamo Rodr\u00edguez\" image=\"\/imgs\/6092.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\"]

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jv.delalamo(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=\"Laura Pons Renau\" image=\"\/imgs\/6347.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\"]

Lab.: 220 Ext.: 4596
lpons(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=”1″ _builder_version=”4.23.4″ _module_preset=”default” background_color=”RGBA(255,255,255,0)” da_disable_devices=”off|off|off” global_colors_info=”{}” da_is_popup=”off” da_exit_intent=”off” da_has_close=”on” da_alt_close=”off” da_dark_close=”off” da_not_modal=”on” da_is_singular=”off” da_with_loader=”off” da_has_shadow=”on”][et_pb_row _builder_version=”4.23.4″ _module_preset=”default” global_colors_info=”{}”][et_pb_column type=”4_4″ _builder_version=”4.23.4″ _module_preset=”default” global_colors_info=”{}”][et_pb_heading title=”Publicaciones representativas” module_id=”personal” _builder_version=”4.25.0″ _module_preset=”default” custom_margin=”0px|||0px|false|false” custom_padding=”3px|||8px|false|false” border_width_left=”6px” border_color_left=”#34609B” global_colors_info=”{}”][\/et_pb_heading][\/et_pb_column][\/et_pb_row][et_pb_row column_structure=”1_4,1_4,1_4,1_4″ _builder_version=”4.23.4″ _module_preset=”default” animation_style=”zoom” global_colors_info=”{}”][et_pb_column type=”1_4″ _builder_version=”4.23.4″ _module_preset=”default” global_colors_info=”{}”][et_pb_image src=”https:\/\/www.cbm.uam.es\/wp-content\/uploads\/2025\/06\/metabolic-flux-1.jpg” title_text=”metabolic flux” url_new_window=”on” _builder_version=”4.27.4″ _module_preset=”default” global_colors_info=”{}”][\/et_pb_image][\/et_pb_column][et_pb_column type=”1_4″ _builder_version=”4.25.0″ _module_preset=”default” global_colors_info=”{}”][et_pb_text _builder_version=”4.27.4″ _module_preset=”default” link_option_url=”https:\/\/pubmed.ncbi.nlm.nih.gov\/40172673\/” link_option_url_new_window=”on” global_colors_info=”{}”]<\/p>\n

Metabolic flux analysis in hiPSC-CMs reveals insights into cardiac dysfunction in propionic acidemia<\/h3>\n

Eva Richard et al.<\/p>\n

[\/et_pb_text][\/et_pb_column][et_pb_column type=”1_4″ _builder_version=”4.23.4″ _module_preset=”default” global_colors_info=”{}”][et_pb_image src=”https:\/\/www.cbm.uam.es\/wp-content\/uploads\/2025\/06\/KO-iPSC.jpg” title_text=”KO iPSC” url_new_window=”on” _builder_version=”4.27.4″ _module_preset=”default” global_colors_info=”{}”][\/et_pb_image][\/et_pb_column][et_pb_column type=”1_4″ _builder_version=”4.25.0″ _module_preset=”default” global_colors_info=”{}”][et_pb_text _builder_version=”4.27.4″ _module_preset=”default” link_option_url=”https:\/\/pubmed.ncbi.nlm.nih.gov\/40044943\/” link_option_url_new_window=”on” global_colors_info=”{}”]<\/p>\n

Novel CRISPR-Cas9 iPSC knockouts for PCCA and PCCB genes: advancing propionic acidemia research<\/h3>\n

Emilio M. Garc\u00eda-Tenorio et al.<\/p>\n

[\/et_pb_text][\/et_pb_column][\/et_pb_row][et_pb_row column_structure=”1_4,1_4,1_4,1_4″ _builder_version=”4.23.4″ _module_preset=”default” animation_style=”zoom” global_colors_info=”{}”][et_pb_column type=”1_4″ _builder_version=”4.23.4″ _module_preset=”default” global_colors_info=”{}”][et_pb_image src=”https:\/\/www.cbm.uam.es\/wp-content\/uploads\/2024\/09\/3.-Hum-Mol-Genet.png” title_text=”Imagen sobre la publicaci\u00f3n” url_new_window=”on” _builder_version=”4.27.0″ _module_preset=”default” global_colors_info=”{}”][\/et_pb_image][\/et_pb_column][et_pb_column type=”1_4″ _builder_version=”4.25.0″ _module_preset=”default” global_colors_info=”{}”][et_pb_text _builder_version=”4.27.0″ _module_preset=”default” link_option_url=”https:\/\/pubmed.ncbi.nlm.nih.gov\/38520741\/” link_option_url_new_window=”on” global_colors_info=”{}”]<\/p>\n

PAH deficient pathology in humanized c.1066-11G>A phenylketonuria mice<\/h3>\n

Ainhoa Mart\u00ednez-Pizarro et al.<\/p>\n

[\/et_pb_text][\/et_pb_column][et_pb_column type=”1_4″ _builder_version=”4.23.4″ _module_preset=”default” global_colors_info=”{}”][et_pb_image src=”https:\/\/www.cbm.uam.es\/wp-content\/uploads\/2025\/06\/SSO-exon-11.jpg” title_text=”SSO exon 11″ url_new_window=”on” _builder_version=”4.27.4″ _module_preset=”default” global_colors_info=”{}”][\/et_pb_image][\/et_pb_column][et_pb_column type=”1_4″ _builder_version=”4.25.0″ _module_preset=”default” global_colors_info=”{}”][et_pb_text _builder_version=”4.27.4″ _module_preset=”default” link_option_url=”https:\/\/pubmed.ncbi.nlm.nih.gov\/38591802\/” link_option_url_new_window=”on” global_colors_info=”{}”]<\/p>\n

Splice-Switching Antisense Oligonucleotides Correct Phenylalanine Hydroxylase Exon 11 Skipping Defects and Rescue Enzyme Activity in Phenylketonuria<\/h3>\n

Ainhoa Mart\u00ednez-Pizarro et al.<\/p>\n

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Cargando publicaciones…<\/div>\n

[\/et_pb_code][\/et_pb_column][\/et_pb_row][\/et_pb_section][et_pb_section fb_built=”1″ _builder_version=”4.23.4″ _module_preset=”default” background_color=”#34609B” da_disable_devices=”off|off|off” global_colors_info=”{}” da_is_popup=”off” da_exit_intent=”off” da_has_close=”on” da_alt_close=”off” da_dark_close=”off” da_not_modal=”on” da_is_singular=”off” da_with_loader=”off” da_has_shadow=”on”][et_pb_row _builder_version=”4.23.4″ _module_preset=”default” global_colors_info=”{}”][et_pb_column type=”4_4″ _builder_version=”4.23.4″ _module_preset=”default” global_colors_info=”{}”][et_pb_heading title=”Programas Cient\u00edficos” _builder_version=”4.25.0″ _module_preset=”default” title_text_color=”#FFFFFF” title_font_size=”26px” global_colors_info=”{}”][\/et_pb_heading][\/et_pb_column][\/et_pb_row][et_pb_row column_structure=”1_4,1_4,1_4,1_4″ use_custom_gutter=”on” gutter_width=”2″ _builder_version=”4.25.0″ _module_preset=”default” custom_margin=”||||false|false” custom_padding=”0px|0px|0px|0px|false|true” global_colors_info=”{}”][et_pb_column type=”1_4″ _builder_version=”4.23.4″ _module_preset=”default” global_colors_info=”{}”][et_pb_image src=”https:\/\/www.cbm.uam.es\/wp-content\/uploads\/2024\/05\/areas_proyects1_sf.png” title_text=” ” url=”https:\/\/www.cbm.uam.es\/index.php\/programas-cientificos\/dinamica-y-funcion-del-genoma\/?lang=es” _builder_version=”4.25.2″ _module_preset=”default” animation_style=”zoom” global_colors_info=”{}”][\/et_pb_image][\/et_pb_column][et_pb_column type=”1_4″ _builder_version=”4.23.4″ _module_preset=”default” global_colors_info=”{}”][et_pb_image src=”https:\/\/www.cbm.uam.es\/wp-content\/uploads\/2024\/05\/areas_proyects2_sf.png” title_text=” ” url=”https:\/\/www.cbm.uam.es\/index.php\/programas-cientificos\/homeostasis-de-tejidos-y-organos\/?lang=es” _builder_version=”4.25.2″ _module_preset=”default” animation_style=”zoom” global_colors_info=”{}”][\/et_pb_image][\/et_pb_column][et_pb_column type=”1_4″ _builder_version=”4.23.4″ _module_preset=”default” global_colors_info=”{}”][et_pb_image src=”https:\/\/www.cbm.uam.es\/wp-content\/uploads\/2024\/05\/areas_proyects3_sf.png” title_text=” ” url=”https:\/\/www.cbm.uam.es\/index.php\/programas-cientificos\/procesos-fisiologicos-y-patologicos\/?lang=es” _builder_version=”4.25.2″ _module_preset=”default” animation_style=”zoom” global_colors_info=”{}”][\/et_pb_image][\/et_pb_column][et_pb_column type=”1_4″ _builder_version=”4.23.4″ _module_preset=”default” global_colors_info=”{}”][et_pb_image src=”https:\/\/www.cbm.uam.es\/wp-content\/uploads\/2024\/05\/areas_proyects4_sf.png” title_text=” ” url=”https:\/\/www.cbm.uam.es\/index.php\/programas-cientificos\/interacciones-con-el-entorno\/?lang=es” _builder_version=”4.25.2″ _module_preset=”default” animation_style=”zoom” global_colors_info=”{}”][\/et_pb_image][\/et_pb_column][\/et_pb_row][\/et_pb_section]<\/p>\n","protected":false},"excerpt":{"rendered":"

Programa Cient\u00edficoUNIDADES EN ESTE PROGRAMA Neuropatolog\u00eda molecular Redes metab\u00f3licas y se\u00f1alizadoras en la enfermedad ORCID ORCIDRealizamos investigaci\u00f3n traslacional en enfermedades neurometab\u00f3licas raras. Generamos modelos animales y celulares personalizados para estudiar […]<\/p>\n","protected":false},"author":22,"featured_media":0,"parent":283176,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_et_pb_use_builder":"on","_et_pb_old_content":"","_et_gb_content_width":"","footnotes":""},"class_list":["post-279392","page","type-page","status-publish","hentry"],"yoast_head":"\nEstudios fisiopatol\u00f3gicos y desarrollo de terapias en modelos animales y celulares de enfermedades neurometab\u00f3licas - Centro de Biolog\u00eda Molecular Severo Ochoa<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/www.cbm.uam.es\/index.php\/scientific-programs\/physiological-and-pathological-processes\/metabolic-and-signaling-networks-in-disease\/physiopathology-studies-and-therapeutical-approaches-in-animal-and-cellular-models-of-neurometabolic-diseases\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Estudios fisiopatol\u00f3gicos y desarrollo de terapias en modelos animales y celulares de enfermedades neurometab\u00f3licas - Centro de Biolog\u00eda Molecular Severo Ochoa\" \/>\n<meta property=\"og:description\" content=\"Programa Cient\u00edficoUNIDADES EN ESTE PROGRAMA Neuropatolog\u00eda molecular Redes metab\u00f3licas y se\u00f1alizadoras en la enfermedad ORCID ORCIDRealizamos investigaci\u00f3n traslacional en enfermedades neurometab\u00f3licas raras. 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