{"id":593,"date":"2024-09-11T09:12:36","date_gmt":"2024-09-11T09:12:36","guid":{"rendered":"https:\/\/www.ull.es\/institutos\/instituto-tecnologias-biomedicas\/?page_id=593"},"modified":"2024-09-11T09:13:40","modified_gmt":"2024-09-11T09:13:40","slug":"patologia-molecular-de-enfermedades-raras-y-metabolicas","status":"publish","type":"page","link":"https:\/\/www.ull.es\/institutos\/instituto-tecnologias-biomedicas\/patologia-molecular-de-enfermedades-raras-y-metabolicas\/","title":{"rendered":"Patolog\u00eda molecular de enfermedades raras y metab\u00f3licas"},"content":{"rendered":"
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Patolog\u00eda molecular de enfermedades raras y metab\u00f3licas<\/h1>\n<\/div>\n
\n

Investigador responsable<\/b><\/h4>\n\n\n\n
<\/td>\nEduardo Salido Ruiz<\/a>, MD, PhD<\/strong><\/p>\n

Catedr\u00e1tico de Anatom\u00eda Patol\u00f3gica; Departamento de Ciencias M\u00e9dicas B\u00e1sicas, ULL; Jefe del Servicio de Anatom\u00eda Patol\u00f3gica, HUC<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<\/div>\n

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Estudiantes de doctorado e investigadores en formaci\u00f3n<\/b><\/p>\n

    \n
  • Luisa Ayelen Ramos Navas (Programa de Doctorado Ciencias M\u00e9dicas y Farmac\u00e9uticas, Desarrollo y Calidad de Vida ULL, ISCIII-CIBERer, 2021-2024)<\/span><\/li>\n<\/ul>\n

    L\u00edneas de investigaci\u00f3n<\/b><\/p>\n

    Estudiamos las bases moleculares de los trastornos cong\u00e9nitos del metabolismo y enfermedades hu\u00e9rfanas, tales como la hiperoxaluria primaria tipo I. Para ello dise\u00f1amos y desarrollamos modelos animales donde iniciar la b\u00fasqueda de mol\u00e9culas activas como aproximaciones terap\u00e9uticas en esta patolog\u00eda, siendo nuestro objetivo principal el desarrollo y transferencia de terapias novedosas basadas en mecanismos moleculares. En los \u00faltimos a\u00f1os, nuestra investigaci\u00f3n precl\u00ednica ha identificado claramente a la glicolato oxidasa (GO o HAO1) \u200b\u200bcomo un objetivo seguro y eficiente para SRT en la hiperoxaluria primaria (PH), desarrollando tres estrategias para su aplicaci\u00f3n en terapias novedosas:<\/span><\/p>\n

      \n
    • Regulaci\u00f3n negativa de GO mediante la administraci\u00f3n de siRNA<\/span><\/li>\n
    • Inhibici\u00f3n de GO con mol\u00e9culas peque\u00f1as<\/span><\/li>\n
    • GO knock-out por inactivaci\u00f3n CRISPR in vivo del gen<\/span><\/li>\n<\/ul>\n

      Proyectos financiados<\/b><\/p>\n

        \n
      • Servicio de edici\u00f3n gen\u00e9tica. Programa Agust\u00edn de Betancourt. IP: Belinda Rivero P\u00e9rez; IP-ULL: Eduardo Salido Ruiz. Cabildo de Tenerife (30\/01\/2020 \u2013 29\/01\/2024, 160.000 \u20ac)<\/span><\/li>\n<\/ul>\n

        Publicaciones 2023<\/b><\/p>\n

          \n
        • Arteaga-Henriquez M, Ramos-Navas LA, <\/span>Salido-Ruiz EC<\/b>, Garcia-Bustinduy M. Beta human papillomavirus as a facilitator in the initial phase but not a perpetuator of skin carcinogenesis. <\/span>JEADV Clinical Practice<\/span><\/i>. 2023;2:958-62. DOI: 10.1002\/JVC2.221<\/span><\/li>\n
        • Pacheco-Garc\u00eda JL, Anoz-Carbonell E, Loginov DS, Kavan D, <\/span>Salido E<\/b>, Man P, Medina M, Pey AL. Counterintuitive structural and functional effects due to naturally occurring mutations targeting the active site of the disease-associated NQO1 enzyme*. <\/span>FEBS Journal<\/span><\/i>. 2023;290(7),1855-1873. DOI: 10.1111\/FEBS.16677<\/span><\/li>\n
        • Gal\u00e1n-Garc\u00eda ME, Mart\u00ednez-Martin MS, Araujo-Ruano EJ, Loro-Ferrer JF, Saavedra-Santana P, <\/span>Salido-Ruiz E<\/b>, Cabrera-Galv\u00e1n J.J. Thyroid Fine Needle Aspiration, the Bethesda System, and the BRAFV600E Mutation in Papillary Thyroid Carcinoma: Association and Prediction for Biopsy. <\/span>Acta Cytologica<\/span><\/i>. 2023;67(4):346-56. DOI: 10.1159\/000528860<\/span><\/li>\n
        • Metry EL, Garrelfs SF, Deesker LJ, Acquaviva C, D\u2019Ambrosio V, Bacchetta J, Beck BB, Cochat P, Collard L, Hogan J, Ferraro PM, Franssen CFM, Harambat J, Hulton S-A, Lipkin GW, Mandrile G, <\/span>Martin-Higueras C<\/b>, Mohebbi N, Moochhala SH, Neuhaus TJ, Prikhodina L, <\/span>Salido E<\/b>, Topaloglu R, Oosterveld MJS, Groothoff JW, Peters-Sengers H. Determinants of Kidney Failure in Primary Hyperoxaluria Type 1: Findings of the European Hyperoxaluria Consortium. <\/span>Kidney International Reports<\/span><\/i>. 2023;8(10):2029-42. DOI: 10.1016\/J.EKIR.2023.07.025<\/span><\/li>\n<\/ul>\n

          Otras publicaciones representativas de los \u00faltimos a\u00f1os<\/b><\/p>\n

            \n
          • Chengjung Lai, Natalie Pursell, Jessica Gierut, Utsav Saxena, Wei Zhou, Michael Dills, Rohan Diwanji, Chaitali Dutta, Martin Koser, Naim Nazef, Rachel Storr, Boyoung Kim, <\/span>Cristina Martin-Higueras<\/b>, <\/span>Eduardo Salido<\/b>, Weimin Wang, Marc Abrams, Henryk Dudek, Bob D Brown. Specific inhibition of Hepatic Lactate Dehydrogenase reduces oxalate production in mouse models of Primary Hyperoxaluria. <\/span>Mol Ther<\/span><\/i>. 2018 Aug;26(8):1983-1995. DOI: 10.1016\/j.ymthe.2018.05.016<\/span><\/li>\n
          • Nerea Zabaleta, Miren Barberia, Cristina Martin-Higueras, Natalia Zapata-Linares, Isabel Betancor, Saray Rodriguez, Rebeca Martinez-Turrillas, Laura Torella, Africa Vales, Cristina Olag\u00fce, Amaia Vilas-Zornoza, Laura Castro-Labrador, David Lara-Astiaso, Felipe Prosper, <\/span>Eduardo Salido<\/b>, Gloria Gonzalez-Aseguinolaza, Juan R Rodriguez-Madoz. CRISPR\/Cas9-mediated glycolate oxidase disruption is an efficacious and safe treatment for primary hyperoxaluria type I. <\/span>Nat Commun<\/span><\/i>. 2018 Dec;9(1):5454. DOI: 10.1038\/s41467-018-07827-1<\/span><\/li>\n
          • Martin-Higueras C<\/b>, Luis-Lima S, <\/span>Salido E<\/b>. Glycolate oxidase is a safe and efficient target for substrate reduction therapy in a mouse model of Primary Hyperoxaluria Type I. <\/span>Mol Ther<\/span>. 2016 Apr;24(4):719-25. DOI: 10.1038\/mt.2015.224<\/span><\/li>\n<\/ul>\n

             <\/p>\n<\/div>\n","protected":false},"excerpt":{"rendered":"

            Patolog\u00eda molecular de enfermedades raras y metab\u00f3licas Investigador responsable Eduardo Salido Ruiz, MD, PhD Catedr\u00e1tico de Anatom\u00eda Patol\u00f3gica; Departamento de Ciencias M\u00e9dicas B\u00e1sicas, ULL; Jefe del Servicio de Anatom\u00eda Patol\u00f3gica, HUC Estudiantes de doctorado e investigadores en formaci\u00f3n Luisa Ayelen Ramos Navas (Programa de Doctorado Ciencias M\u00e9dicas y Farmac\u00e9uticas, Desarrollo y Calidad de Vida ULL,…<\/p>\n","protected":false},"author":6,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":[],"_links":{"self":[{"href":"https:\/\/www.ull.es\/institutos\/instituto-tecnologias-biomedicas\/wp-json\/wp\/v2\/pages\/593"}],"collection":[{"href":"https:\/\/www.ull.es\/institutos\/instituto-tecnologias-biomedicas\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/www.ull.es\/institutos\/instituto-tecnologias-biomedicas\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/www.ull.es\/institutos\/instituto-tecnologias-biomedicas\/wp-json\/wp\/v2\/users\/6"}],"replies":[{"embeddable":true,"href":"https:\/\/www.ull.es\/institutos\/instituto-tecnologias-biomedicas\/wp-json\/wp\/v2\/comments?post=593"}],"version-history":[{"count":2,"href":"https:\/\/www.ull.es\/institutos\/instituto-tecnologias-biomedicas\/wp-json\/wp\/v2\/pages\/593\/revisions"}],"predecessor-version":[{"id":596,"href":"https:\/\/www.ull.es\/institutos\/instituto-tecnologias-biomedicas\/wp-json\/wp\/v2\/pages\/593\/revisions\/596"}],"wp:attachment":[{"href":"https:\/\/www.ull.es\/institutos\/instituto-tecnologias-biomedicas\/wp-json\/wp\/v2\/media?parent=593"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}