{"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\/en\/patologia-molecular-de-enfermedades-raras-y-metabolicas\/","title":{"rendered":"Molecular pathology of rare and metabolic diseases"},"content":{"rendered":"
\n

Molecular pathology of rare and metabolic diseases<\/h1>\n<\/div>\n
\n

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

Professor of Pathological Anatomy; Department of Basic Medical Sciences, ULL; Head of the Pathological Anatomy Service, HUC<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<\/div>\n

\n

PhD students and researchers in training<\/b><\/p>\n

    \n
  • Luisa Ayelen Ramos Navas (Doctoral Program in Medical and Pharmaceutical Sciences, Development and Quality of Life ULL, ISCIII-CIBERer, 2021-2024)<\/span><\/li>\n<\/ul>\n

    Lines of research<\/b><\/p>\n

    We study the molecular basis of congenital metabolic disorders and rare diseases, such as primary hyperoxaluria type I. To this end, we design and develop animal models to initiate the search for active molecules as therapeutic approaches for this pathology. Our main objective is the development and transfer of novel therapies based on molecular mechanisms. In recent years, our preclinical research has clearly identified glycolate oxidase (GO or HAO1) \u200b\u200bas a safe and efficient target for selective ionization therapy (SRT) in primary hyperoxaluria (PH), leading to the development of three strategies for its application in novel therapies:<\/span><\/p>\n

      \n
    • Negative regulation of GO by siRNA administration<\/span><\/li>\n
    • Inhibition of GO with small molecules<\/span><\/li>\n
    • GO knockout by in vivo CRISPR gene inactivation<\/span><\/li>\n<\/ul>\n

      Funded projects<\/b><\/p>\n

        \n
      • Genetic editing service. Agust\u00edn de Betancourt Program. PI: Belinda Rivero P\u00e9rez; PI-ULL: Eduardo Salido Ruiz. Tenerife Island Council (30\/01\/2020 \u2013 29\/01\/2024, \u20ac160,000)<\/span><\/li>\n<\/ul>\n

        Publications 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>E left<\/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 JJ 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'Ambrosio V, Bacchetta J, Beck BB, Cochat P, Collard L, Hogan J, Ferraro PM, Franssen CFM, Harambat J, Hulton SA, Lipkin GW, Mandrile G, <\/span>Martin-Higueras C<\/b>, Mohebbi N, Moochhala SH, Neuhaus TJ, Prikhodina L, <\/span>E left<\/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

          Other representative publications from recent years<\/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>E left<\/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>","protected":false},"excerpt":{"rendered":"

            Molecular Pathology of Rare and Metabolic Diseases. Principal Investigator: Eduardo Salido Ruiz, MD, PhD, Professor of Pathological Anatomy; Department of Basic Medical Sciences, ULL; Head of the Pathological Anatomy Service, HUC. PhD Students and Research Trainees: Luisa Ayelen Ramos Navas (Doctoral Program in Medical and Pharmaceutical Sciences, Development and Quality of Life, ULL,\u2026<\/p>","protected":false},"author":6,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"footnotes":""},"class_list":["post-593","page","type-page","status-publish","hentry"],"_links":{"self":[{"href":"https:\/\/www.ull.es\/institutos\/instituto-tecnologias-biomedicas\/en\/wp-json\/wp\/v2\/pages\/593","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.ull.es\/institutos\/instituto-tecnologias-biomedicas\/en\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/www.ull.es\/institutos\/instituto-tecnologias-biomedicas\/en\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/www.ull.es\/institutos\/instituto-tecnologias-biomedicas\/en\/wp-json\/wp\/v2\/users\/6"}],"replies":[{"embeddable":true,"href":"https:\/\/www.ull.es\/institutos\/instituto-tecnologias-biomedicas\/en\/wp-json\/wp\/v2\/comments?post=593"}],"version-history":[{"count":2,"href":"https:\/\/www.ull.es\/institutos\/instituto-tecnologias-biomedicas\/en\/wp-json\/wp\/v2\/pages\/593\/revisions"}],"predecessor-version":[{"id":596,"href":"https:\/\/www.ull.es\/institutos\/instituto-tecnologias-biomedicas\/en\/wp-json\/wp\/v2\/pages\/593\/revisions\/596"}],"wp:attachment":[{"href":"https:\/\/www.ull.es\/institutos\/instituto-tecnologias-biomedicas\/en\/wp-json\/wp\/v2\/media?parent=593"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}