{"id":290,"date":"2021-03-18T12:38:39","date_gmt":"2021-03-18T12:38:39","guid":{"rendered":"http:\/\/www.ull.es\/institutos\/institute-biomedical-technologies\/?page_id=290"},"modified":"2021-03-18T12:38:39","modified_gmt":"2021-03-18T12:38:39","slug":"molecular-pathology-of-rare-and-metabolic-diseases","status":"publish","type":"page","link":"https:\/\/www.ull.es\/institutos\/institute-biomedical-technologies\/molecular-pathology-of-rare-and-metabolic-diseases\/","title":{"rendered":"Molecular pathology of rare and metabolic diseases"},"content":{"rendered":"

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

PRINCIPAL INVESTIGATOR<\/h4>\n\n\n\n
<\/td>\nEduardo Salido Ruiz, MD, PhD<\/strong><\/p>\n

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

POSTDOCTORAL RESEARCHERS:<\/h4>\n
    \n
  • Cristina Mart\u00edn Higueras (\u201cJuan de la Cierva\u201d investigator, MICINN)<\/li>\n<\/ul>\n

    PHD STUDENTS AND TRAINEES:<\/h4>\n
      \n
    • Ignacio Alonso de Vega (Studentship programme for training research personnel for PhD thesis, ACIISI)<\/li>\n
    • Isabel Betancor Fern\u00e1ndez (PhD student, ULL)<\/li>\n
    • Celeste Gonz\u00e1lez Garc\u00eda (PhD student, ULL)<\/li>\n<\/ul>\n

      TECHNICAL AND ADMINISTRATIVE STAFF:<\/h4>\n
        \n
      • B\u00e1rbara Rodr\u00edguez Rodr\u00edguez (CIBER of rare diseases)<\/li>\n<\/ul>\n

        RESEARCH LINES:<\/h4>\n

        We are interested in the molecular basis of inherited metabolic disorders and orphan diseases, such as Type I Primary Hyperoxaluria. For these studies we design and develop appropriate animal models to test the potential therapeutic effects of active molecules.<\/p>\n

        FUNDED PROJECTS:<\/h4>\n
          \n
        • Molecular substrate reduction therapy for primary hyperoxaluria (SAF2015-69796-C2-1-R \u2013 \u201cTerapia molecular de reducci\u00f3n de substrato para la hiperoxaluria primaria\u201d). PI: Eduardo Salido Ruiz. Ministry of Science and innovation (2016-2019, 157,300 \u20ac)<\/li>\n
        • In vivo screening based on the reversal of cellular phenotypes to find new drugs inhibiting the Chk1 kinase involved in cancer. Project Agust\u00edn de Betancourt \u2013 \u201cRastreo in vivo basado en la reversi\u00f3n de fenotipo celular para encontrar nuevos f\u00e1rmacos inhibidores contra la quinasa Chk1 implicada en c\u00e1ncer\u201d. PI: David Gillespie, Tutor: Eduardo Salido Ruiz Tenerife Regional Government (2017-2021, 160,000 \u20ac)<\/li>\n
        • Gene editing service. \u201cAgust\u00edn de Betancourt\u201d Project. PI: Belinda Rivero P\u00e9rez; PI-ULL: Eduardo Salido Ruiz. Council of Tenerife (2020-2023, 160,000 \u20ac)<\/li>\n
        • Amendment NO.1 Master Consulting Agreement (Biomarin Pharmaceutical. 2017-2020, 30.000$). PI: Eduardo Salido Ruiz<\/li>\n
        • Material Transfer Agreement (Uniqure Biopharma. 2018 – present, 28,800 \u20ac). PI: Eduardo Salido Ruiz<\/li>\n
        • Material Transfer Agreement (Biomarin Pharmaceutical. 2015-2020, 55,000 \u20ac). PI: Eduardo Salido Ruiz<\/li>\n<\/ul>\n

          PUBLICATIONS 2019:<\/h4>\n
            \n
          • Kukreja A, Lasaro M, Cobaugh C, Forbes C, Tang J-P, Gao X, Martin-Higueras C, Pey AL, Salido E, Sobolov S, Subramanian RR. Systemic Alanine Glyoxylate Aminotransferase mRNA Improves Glyoxylate Metabolism in a Mouse Model of Primary Hyperoxaluria Type 1. Nucleic Acid Ther. 2019 Apr;29(2):104-113. doi: 10.1089\/nat.2018.0740<\/li>\n
          • Medina-Carmona E,Betancor-Fern\u00e1ndez I,Santos J,Mesa-Torres N,Grottelli S, Batlle C,Naganathan AN,Oppici E,Cellini B,Ventura S,Salido E,Pey AL. Insight into the specificity and severity of pathogenic mechanisms associated with missense mutations through experimental and structural perturbation analyses. Hum Mol Genet. 2019 Jan 1;28(1):1-15. doi: 10.1093\/hmg\/ddy323<\/li>\n
          • Medina Vega L,Hern\u00e1ndez Nieto L,Salido Ruiz E,\u00c1lvarez-Arg\u00fcelles Cabrera H, Raya S\u00e1nche JM. Comprehensive clinical, molecular and histopathological analysis of bone marrow in chronic myeloproliferative neoplasia [An\u00e1lisis integrado cl\u00ednico, molecular e histopatol\u00f3gico de la m\u00e9dula \u00f3sea en las neoplasias mieloproliferativas cr\u00f3nicas]. Rev Clin Esp. 2019 Nov;219(8):440-444. doi: 10.1016\/j.rce.2018.11.012<\/li>\n
          • Garrelfs SF, Rumsby G, Peters-Sengers H, Erger F, Groothoff JW, Beck BB, Oosterveld MJS, Pelle A, Neuhaus T, Adams B, Cochat P, Salido E, Lipkin GW, Hoppe B, Hulton SA; OxalEurope Consortium. Patients with primary hyperoxaluria type 2 have significant morbidity and require careful follow-up. Kidney Int. 2019 Dec;96(6):1389-1399. Kidney Int. 2019 Dec;96(6):1389-1399. doi: 10.1016\/j.kint.2019.08.018<\/li>\n
          • Martinez-Turrillas R, Rodriguez-Diaz S, Rodriguez-Marquez P, Martin-Mallo A, Salido E, Beck BB, Prosper F, Rodriguez-Madoz JR. Generation of an induced pluripotent stem cell line (CIMAi001-A) from a compound heterozygous Primary Hyperoxaluria Type I (PH1) patient carrying p.G170R and p.R122* mutations in the AGXT gene. Stem Cell Res. 2019 Dec;41:101626. doi: 10.1016\/j.scr.2019.101626<\/li>\n
          • Vankova P, Salido E, Timson DJ, Man P, Pey AL. A Dynamic Core in Human NQO1 Controls the Functional and Stability Effects of Ligand Binding and Their Communication across the Enzyme Dimer. Biomolecules. 2019 Nov 12;9(11). pii: E728. doi: 10.3390\/biom9110728<\/li>\n
          • Gonzalez-Sanchez L, Cobos-Fernandez MA, Lopez-Nieva P, Villa-Morales M, Stamatakis K, Cuezva JM, Marin Rubio JL, Vazquez-Dominguez I, Gonzalez-Vasconcellos I, Salido E, Llamas P, Lopez-Lorenzo JL, Santos J, Fernandez-Piqueras J. Exploiting the passenger ACO1-deficiency arising from 9p21 deletions to kill T-cell lymphoblastic neoplasia cells. Carcinogenesis. 2019 Nov 17. pii: bgz185. doi: 10.1093\/carcin\/bgz185. [Epub ahead of print]<\/li>\n
          • Martin-Higueras C, Ludwig-Portugall I, Hoppe B, Kurts C. Targeting kidney inflammation as a new therapy for primary hyperoxaluria? Nephrol Dial Transplant. 2019 Jun 1;34(6):908-914. doi: 10.1093\/ndt\/gfy239<\/li>\n<\/ul>\n

            OTHER SELECTED PUBLICATIONS FROM THE LAST 10 YEARS:<\/h4>\n
              \n
            • Martin-Higueras C, Luis-Lima S, Salido E. Glycolate oxidase is a safe and efficient target for substrate reduction therapy in a mouse model of Primary Hyperoxaluria Type I. Mol Ther. 2016 Apr;24(4):719-25. doi: 10.1038\/mt.2015.224<\/li>\n
            • Garc\u00eda-G\u00f3mez S, Reyes A, Mart\u00ednez-Jim\u00e9nez MI, Chocr\u00f3n ES, Mour\u00f3n S, Terrados G, Powell C, Salido E, M\u00e9ndez J, Holt IJ, Blanco L. PrimPol, an archaic primase\/polymerase operating in human cells. Mol Cell. 2013 Nov 21;52(4):541-53<\/li>\n
            • Salido E, Pey AL, Rodriguez R, Lorenzo V. Primary hyperoxalurias: Disorders of glyoxylate detoxification. Biochim Biophys Acta. 2012 Sep;1822(9):1453-64. doi: 10.1016\/j.bbadis.2012.03.004<\/li>\n
            • Salido E, Rodriguez-Pena M, Santana A, Beattie SG, Petry H, Torres A. Phenotypic Correction of a Mouse Model for Primary Hyperoxaluria with Adenoassociated Virus Gene Transfer. Mol Ther. 2011 May;19(5):870-5. doi: 10.1038\/mt.2010.270<\/li>\n
            • Wei C, El Hindi S, Li J, Fornoni A, Goes N, Sageshima J, Maiguel D, Karumanchi SA, Yap HK, Saleem M, Zhang Q, Nikolic B, Chaudhuri A, Daftarian P, Salido E, Torres A, Salifu M, Sarwal MM, Schaefer F, Morath C, Schwenger V, Zeier M, Gupta V, Roth D, Rastaldi MP, Burke G, Ruiz P, Reiser J. Circulating urokinase receptor as a cause of focal segmental glomerulosclerosis. Nat Med. 2011 Jul 31;17(8):952-60. doi: 10.1038\/nm.2411<\/li>\n<\/ul>\n<\/div>\n

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              [vc_row][vc_column][vc_column_text] 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 Pathological Anatomy Service HUC POSTDOCTORAL RESEARCHERS: Cristina Mart\u00edn Higueras (\u201cJuan de la Cierva\u201d investigator, MICINN) PHD STUDENTS AND TRAINEES: Ignacio Alonso de Vega (Studentship programme for training research…<\/p>\n","protected":false},"author":2,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"templates\/template-no-title.php","meta":[],"_links":{"self":[{"href":"https:\/\/www.ull.es\/institutos\/institute-biomedical-technologies\/wp-json\/wp\/v2\/pages\/290"}],"collection":[{"href":"https:\/\/www.ull.es\/institutos\/institute-biomedical-technologies\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/www.ull.es\/institutos\/institute-biomedical-technologies\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/www.ull.es\/institutos\/institute-biomedical-technologies\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/www.ull.es\/institutos\/institute-biomedical-technologies\/wp-json\/wp\/v2\/comments?post=290"}],"version-history":[{"count":1,"href":"https:\/\/www.ull.es\/institutos\/institute-biomedical-technologies\/wp-json\/wp\/v2\/pages\/290\/revisions"}],"predecessor-version":[{"id":291,"href":"https:\/\/www.ull.es\/institutos\/institute-biomedical-technologies\/wp-json\/wp\/v2\/pages\/290\/revisions\/291"}],"wp:attachment":[{"href":"https:\/\/www.ull.es\/institutos\/institute-biomedical-technologies\/wp-json\/wp\/v2\/media?parent=290"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}