People / Staff

Rafael Artuch Iriberri

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Publications

  • Emperador S, Habbane M, López-Gallardo E, Del Rio A, Llobet L, Mateo J, Sanz-López AM, Fernández-García MJ, Sánchez-Tocino H, Benbunan-Ferreiro S, Calabuig-Goena M, Narvaez-Palazón C, Fernández-Vega B, González-Iglesias H, Urreizti R, Artuch-Iriberri R, Pacheu-Grau D, Bayona-Bafaluy P, Montoya J and Ruiz-Pesini E.

    Identification and characterization of a new pathologic mutation in a large Leber hereditary optic neuropathy pedigree

    ORPHANET JOURNAL OF RARE DISEASES . 19(1): 148-148.

    [doi:10.1186/s13023-024-03165-2]

  • Cascajo-Almenara MV, Julià-Palacios NA, Urreizti R, Sánchez-Cuesta A, Fernández-Ayala DM, García-Díaz E, Oliva-Mussara C, O Callaghan MDM, Paredes-Fuentes AJ, Moreno-Lozano PJ, Muchart-Lopez J, Nascimento-Osorio A, Ortez-Gonzalez CI, Natera-de Benito D, Pineda M, Rivera N, Fortuna TR, Rajan DS, Navas P, Salviati L, Palau F, Yubero-Siles D, Garcia-Cazorla A, Bhan-Pandey U, Santos-Ocaña C and Artuch-Iriberri R.

    Mutations of GEMIN5 are associated with coenzyme Q10 deficiency: long-term follow-up after treatment

    EUROPEAN JOURNAL OF HUMAN GENETICS . 32(4): 426-434. Number of citations: 3

    [doi:10.1038/s41431-023-01526-2]

  • Adel MR, Antón-Galindo E, Gago-Garcia E, Arias-Dimas A, Arenas C, Artuch-Iriberri R, Cormand B and Fernandez-Castillo N.

    Decreased Brain Serotonin in rbfox1 Mutant Zebrafish and Partial Reversion of Behavioural Alterations by the SSRI Fluoxetine

    Pharmaceuticals . 17(2): .

    [doi:10.3390/ph17020254]

  • Mayayo-Vallverdú C, Prat E, Vecino-Pérez M, González L, Gràcia-Garcia S, San Miguel L, Lopera N, Arias A, Artuch-Iriberri R, López de Heredia M, Torrecilla C, Rousaud-Barón F, Angerri O, Errasti-Murugarren E and Nunes V.

    Exploring the Contribution of the Transporter AGT1/rBAT in Cystinuria Progression: Insights from Mouse Models and a Retrospective Cohort Study

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 24(24): .

    [doi:10.3390/ijms242417140]

  • Muñoz-Pujol G, Ugarteburu O, Segur-Bailach E, Moliner S, Jurado S, Garrabou G, Guitart-Mampel M, García-Villoria J, Artuch-Iriberri R, Fons-Estupina C, Ribes A and Tort F.

    CRISPR/Cas9-based functional genomics strategy to decipher the pathogenicity of genetic variants in inherited metabolic disorders

    JOURNAL OF INHERITED METABOLIC DISEASE . 46(6): 1029-1042.

    [doi:10.1002/jimd.12681]

  • Mariño Z, Molera C, Badenas C, Quintero-Bernabeu J, Torra M, Forns X and Artuch-Iriberri R.

    Benefits of using exchangeable copper and the ratio of exchangeable copper in a real-world cohort of patients with Wilson disease

    JOURNAL OF INHERITED METABOLIC DISEASE . 46(5): 982-991. Number of citations: 5

    [doi:10.1002/jimd.12639]

  • Cantó-Santos J, Valls-Roca L, Tobías E, Oliva-Mussara C, García-García FJ, Guitart-Mampel M, Andújar-Sánchez F, Esteve-Codina A, Martín-Mur B, Padrosa J, Aránega R, Moreno-Lozano PJ, Milisenda JC, Artuch-Iriberri R, Grau-Junyent JM and Garrabou G.

    Integrated Multi-Omics Analysis for Inferring Molecular Players in Inclusion Body Myositis

    ANTIOXIDANTS . 12(8): . Number of citations: 3

    [doi:10.3390/antiox12081639]

  • Mayayo-Vallverdú C, López de Heredia M, Prat E, González L, Espino Guarch M, Vilches C, Muñoz L, Asensi MA, Serra C, Llebaria A, Casado-Rio M, Artuch-Iriberri R, Garrabou G, Garcia-Roves PM, Pallardó FV and Nunes V.

    The antioxidant L-Ergothioneine prevents cystine lithiasis in the Slc7a9-/- mouse model of cystinuria

    REDOX BIOLOGY . 64: 102801-102801. Number of citations: 5

    [doi:10.1016/j.redox.2023.102801]

  • Oliva-Mussara C, Arias A, Ruiz M, Pujol A, Garrabou G, Canto-Santos J, Urreizti R, Castilla-Vallmanya L, Rodriguez H, Jou-Munoz C, Casado-Rio M, Ormazabal-Herrero A and Artuch-Iriberri R.

    Fibroblast phenylalanine concentration as a surrogate biomarker of cellular number

    JOURNAL OF CHROMATOGRAPHY B-ANALYTICAL TECHNOLOGIES IN THE BIOMEDICAL AND LIFE SCIENCES . 1226: 123787-123787. Number of citations: 2

    [doi:10.1016/j.jchromb.2023.123787]

  • Tangeraas T, Ribeiro J, Backe PH, De Oyarzabal-Sanz AL, Neugebauer J, Weinhold N, Boemer F, Debray FG, Ozturk-Hism B, Evren G, Tuba EF, Ummuhan O, Footitt E, Davison J, Martinez C, Bueno C, Machado I, Rodríguez-Pombo P, Al-Sannaa N, de los Santos MM, Muchart-Lopez J, Ozturkmen-Akay H, Karaca M, Tekin M, Pajares S, Ormazabal-Herrero A, Stoway SD, Artuch-Iriberri R, Dixon M, Mørkrid L and Garcia-Cazorla A.

    BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening

    BRAIN . 146(7): 3003-3013. Number of citations: 6

    [doi:10.1093/brain/awad010]