People / Staff

Rafael Artuch Iriberri

Search publications

Publications

  • Oliva-Mussara C, Arias A, Ruiz-Sala P, Garcia-Villoria J, Carling R, Bierau J, Ruijter GJG, Casado-Rio M, Ormazabal-Herrero A and Artuch-Iriberri R.

    Targeted ultra performance liquid chromatography tandem mass spectrometry procedures for the diagnosis of inborn errors of metabolism: validation through ERNDIM external quality assessment schemes

    CLINICAL CHEMISTRY AND LABORATORY MEDICINE . 62(10): 1991-2000.

    [doi:10.1515/cclm-2023-1291]

  • Mayayo-Vallverdú C, Gaitán-Peñas H, Armand-Ugon M, Muhaisen A, Prat E, Castellanos A, Elorza-Vidal X, de Heredia ML, Alonso-Gardón M, Pérez-Rius C, Vecino-Pérez M, Mallen A, Errasti-Murugarren E, Hueso M, Artuch-Iriberri R, Nunes V and Estévez R.

    Regulation of ClC-K/barttin by endocytosis influences distal convoluted tubule hyperplasia

    JOURNAL OF PHYSIOLOGY-LONDON . 602(17): 4291-4307. Number of citations: 1

    [doi:10.1113/JP286729]

  • Beatriz Mínguez Rodríguez, de los Santos MM, García-Volpe C, Molera C, Paredes-Fuentes AJ, Oliva-Mussara C, Arias A, Rodriguez H, Yubero-Siles D, Tondo M, Santos-Ocaña C, Meavilla-Olivas SM and Artuch-Iriberri R.

    Exploring Plasma Coenzyme Q10 Status in Paediatric Dyslipidaemia

    ANTIOXIDANTS . 13(8): .

    [doi:10.3390/antiox13080966]

  • Barroso, Sergio, Guitart-Mampel, Mariona, Garcia-Garcia, Francesc Josep, Canto-Santos, Judith, Valls-Roca, Laura, Andujar-Sanchez, Felix, Vilaseca-Capel, Adria, Tobias, Ester, Arias-Dimas, Angela, Quesada-Lopez, Tania, Artuch-Iriberri R, Villarroya-Gombau F, Giralt, Marta, Martinez, Esteban, Lozano, Ester and Garrabou, Gloria.

    Metabolic, Mitochondrial, and Inflammatory Effects of Efavirenz, Emtricitabine, and Tenofovir Disoproxil Fumarate in Asymptomatic Antiretroviral-Naïve People with HIV

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 25(15): .

    [doi:10.3390/ijms25158418]

  • Fabra MA, Paredes-Fuentes AJ, Torralba Carnerero M, Moreno Férnandez de Ayala DJ, Arroyo Luque A, Sánchez Cuesta A, Staiano C, Sanchez-Pintos P, Luz Couce M, Tomás M, Marco-Hernández AV, Orellana C, Martínez F, Roselló M, Caro A, Oltra Soler JS, Monfort S, Sánchez A, Rausell D, Vitoria I, Del Toro M, Garcia-Cazorla A, Julià-Palacios NA, Jou-Munoz C, Yubero-Siles D, López LC, Hernández Camacho JD, López Lluch G, Ballesteros Simarro M, Rodríguez Aguilera JC, Calvo GB, Cascajo Almenara MV, Artuch-Iriberri R and Santos-Ocaña C.

    New variants expand the neurological phenotype of COQ7 deficiency

    JOURNAL OF INHERITED METABOLIC DISEASE . : .

    [doi:10.1002/jimd.12776]

  • Morales-Romero B, Muñoz-Pujol G, Artuch-Iriberri R, Garcia-Cazorla A, O'Callaghan-Gordo M, Sykut-Cegielska J, Campistol-Plana J, Moreno-Lozano PJ, Oud MM, Wevers RA, Lefeber DJ, Esteve-Codina A, Yepez VA, Gagneur J, Wortmann SB, Prokisch H, Ribes A, García-Villoria J and Tort F.

    Genome and RNA sequencing were essential to reveal cryptic intronic variants associated to defective ATP6AP1 mRNA processing

    MOLECULAR GENETICS AND METABOLISM . 142(3): 108511-108511.

    [doi:10.1016/j.ymgme.2024.108511]

  • Launay N, Lopez-Erauskin J, Bianchi P, Guha S, Parameswaran J, Coppa A, Torreni L, Schlüter A, Fourcade S, Paredes-Fuentes AJ, Artuch-Iriberri R, Casasnovas C, Ruiz M and Pujol A.

    Imbalanced mitochondrial dynamics contributes to the pathogenesis of X-linked adrenoleukodystrophy

    BRAIN . 147(6): 2069-2084. Number of citations: 1

    [doi:10.1093/brain/awae038]

  • Illescas S, Diaz-Osorio Y, Serradell A, Toro-Soria L, Musokhranova U, Julià-Palacios NA, Ribeiro J, Altafaj X, Olivella M, O'Callaghan-Gordo M, Darling A, Armstrong-Moron J, Artuch-Iriberri R, Garcia-Cazorla A and De Oyarzabal-Sanz AL.

    Metabolic characterization of neurogenetic disorders involving glutamatergic neurotransmission

    JOURNAL OF INHERITED METABOLIC DISEASE . 47(3): 551-569. Number of citations: 2

    [doi:10.1002/jimd.12689]

  • Peters TMA, Engelke UFH, de Boer S, Reintjes JTG, Roullet JB, Broekman S, de Vrieze E, van Wijk E, Wamelink MMC, Artuch-Iriberri R, Baric I, Merx J, Boltje TJ, Martens J, Willemsen MAAP, Verbeek MM, Wevers RA, Gibson KM and Coene KLM.

    Succinic semialdehyde dehydrogenase deficiency in mice and in humans: An untargeted metabolomics perspective

    JOURNAL OF INHERITED METABOLIC DISEASE . 47(3): 417-430. Number of citations: 4

    [doi:10.1002/jimd.12657]

  • Rullo-Tubau J, Martinez-Molledo M, Bartoccioni P, Puch-Giner I, Arias AY, Saen-Oon S, Stephan-Otto Attolini C, Artuch-Iriberri R, Díaz L, Guallar V, Errasti-Murugarren E, Palacín M and Llorca O.

    Structure and mechanisms of transport of human Asc1/CD98hc amino acid transporter

    NATURE COMMUNICATIONS . 15(1): 2986-2986. Number of citations: 1

    [doi:10.1038/s41467-024-47385-3]