Found: 6

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  • BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening.

    Published in:
    Brain: A Journal of Neurology, 2023, v. 146, n. 7, p. 3003, doi. 10.1093/brain/awad010
    By:
    • Tangeraas, Trine;
    • Constante, Juliana R;
    • Backe, Paul Hoff;
    • Oyarzábal, Alfonso;
    • Neugebauer, Julia;
    • Weinhold, Natalie;
    • Boemer, Francois;
    • Debray, François G;
    • Ozturk-Hism, Burcu;
    • Evren, Gumus;
    • Tuba, Eminoglu F;
    • Ummuhan, Oncul;
    • Footitt, Emma;
    • Davison, James;
    • Martinez, Caroline;
    • Bueno, Clarissa;
    • Machado, Irene;
    • Rodríguez-Pombo, Pilar;
    • Al-Sannaa, Nouriya;
    • Santos, Mariela De Los
    Publication type:
    Article

  • Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome.

    Published in:
    Acta Neuropathologica, 2020, v. 140, n. 6, p. 971, doi. 10.1007/s00401-020-02223-w
    By:
    • García-Cazorla, Àngels;
    • Verdura, Edgard;
    • Juliá-Palacios, Natalia;
    • Anderson, Eric N.;
    • Goicoechea, Leire;
    • Planas-Serra, Laura;
    • Tsogtbaatar, Enkhtuul;
    • Dsouza, Nikita R.;
    • Schlüter, Agatha;
    • Urreizti, Roser;
    • Tarnowski, Jessica M.;
    • Gavrilova, Ralitza H.;
    • SHMT2 Working Group;
    • Oyarzábal, Alfonso;
    • Medina, Inés;
    • Ormazábal, Aida;
    • Muchart, Jordi;
    • Carretero, Juan Manuel;
    • Jou, Cristina;
    • del Toro, Mireia
    Publication type:
    Article

  • Altered Redox Homeostasis in Branched-Chain Amino Acid Disorders, Organic Acidurias, and Homocystinuria.

    Published in:
    Oxidative Medicine & Cellular Longevity, 2018, p. 1, doi. 10.1155/2018/1246069
    By:
    • Richard, Eva;
    • Gallego-Villar, Lorena;
    • Rivera-Barahona, Ana;
    • Oyarzábal, Alfonso;
    • Pérez, Belén;
    • Rodríguez-Pombo, Pilar;
    • Desviat, Lourdes R.
    Publication type:
    Article

  • Metabolic characterization of neurogenetic disorders involving glutamatergic neurotransmission.

    Published in:
    Journal of Inherited Metabolic Disease, 2024, v. 47, n. 3, p. 551, doi. 10.1002/jimd.12689
    By:
    • Illescas, Sofía;
    • Diaz‐Osorio, Yaiza;
    • Serradell, Anna;
    • Toro‐Soria, Lucía;
    • Musokhranova, Uliana;
    • Juliá‐Palacios, Natalia;
    • Ribeiro‐Constante, Juliana;
    • Altafaj, Xavier;
    • Olivella, Mireia;
    • O'Callaghan, Mar;
    • Darling, Alejandra;
    • Armstrong, Judith;
    • Artuch, Rafael;
    • García‐Cazorla, Àngels;
    • Oyarzábal, Alfonso
    Publication type:
    Article

  • Loss of CLTRN function produces a neuropsychiatric disorder and a biochemical phenotype that mimics Hartnup disease.

    Published in:
    American Journal of Medical Genetics. Part A, 2019, v. 179, n. 12, p. 2459, doi. 10.1002/ajmg.a.61357
    By:
    • Pillai, Nishitha R.;
    • Yubero, Delia;
    • Shayota, Brian J.;
    • Oyarzábal, Alfonso;
    • Ghosh, Rajarshi;
    • Sun, Qin;
    • Azamian, Mahshid S.;
    • Arjona, Cesar;
    • Brandi, Núria;
    • Palau, Francesc;
    • Lalani, Seema R.;
    • Artuch, Rafael;
    • García‐Cazorla, Angeles;
    • Scott, Daryl A.
    Publication type:
    Article

  • Mitochondrial modulation with leriglitazone as a potential treatment for Rett syndrome.

    Published in:
    Journal of Translational Medicine, 2023, v. 21, n. 1, p. 1, doi. 10.1186/s12967-023-04622-5
    By:
    • Musokhranova, Uliana;
    • Grau, Cristina;
    • Vergara, Cristina;
    • Rodríguez-Pascau, Laura;
    • Xiol, Clara;
    • Castells, Alba A.;
    • Alcántara, Soledad;
    • Rodríguez-Pombo, Pilar;
    • Pizcueta, Pilar;
    • Martinell, Marc;
    • García-Cazorla, Angels;
    • Oyarzábal, Alfonso
    Publication type:
    Article