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Metabolòmica i genètica bioquímica

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Publicacions

  • 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.

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

  • 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]

  • 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 . : .

    [doi:10.1515/cclm-2023-1291]

  • Centeno-Pla M, Alcaide-Consuegra E, Gibson S, Prat-Planas A, Gutiérrez-Ávila JD, Grinberg-Vaisman DR, Urreizti R, Rabionet-Janssen R and Balcells S.

    Subcellular localisation of truncated MAGEL2 proteins: insight into the molecular pathology of Schaaf-Yang syndrome.

    JOURNAL OF MEDICAL GENETICS . : .

    [doi:10.1136/jmg-2024-109898]

  • Ribeiro J, Tristan-Noguero A, Martinez-Calvo FF, Ibanez-Mico S, Peña-Segura JL, Ramos-Fernandez JM, O'Callaghan-Gordo M, Campistol-Plana J, Serrano M, Xenia Alonso, Illescas KS, Ramírez-Camacho A, Sans-Capdevila O, Garcia-Cazorla A and Alonso-Colmenero I.

    Developmental Outcome of Electroencephalographic Findings in SYNGAP1 Encephalopathy

    Frontiers in Cell and Developmental Biology . 12: .

    [doi:10.3389/fcell.2024.1321282]

  • 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]

  • 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 . : . Nº de cites: 1

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

  • Epifani F, Pujol Serra SM, Llorens M, Balsells S, Nolasco-Tovar GA, Bolasell M, SERGIO AGUILERA ALBESA, Cancho Candela R, Cuevas Cervera JL, García Sánchez V, Garcia O, Miranda-Herrero MC, Moreno-Lozano PJ, Robles B, Roldán Aparicio S, Velázquez Fragua R and Serrano M.

    Untangling adaptive functioning of PMM2-CDG across age and its impact on parental stress: a cross-sectional study

    SCIENTIFIC REPORTS . 13(1): 22783-22783.

    [doi:10.1038/s41598-023-49518-y]

  • 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]

  • Lenz D, Schlieben LD, Shimura M, Bianzano A, Smirnov D, Kopajtich R, Berutti R, Adam R, Aldrian D, Baric I, Baumann U, Bozbulut NE, Brugger M, Brunet T, Bufler P, Burnyte B, Calvo PL, Crushell E, Dalgiç B, Das AM, Dezsofi A, Distelmaier F, Fichtner A, Freisinger P, Garbade SF, Gaspar H, Goujon L, Hadzic N, Hartleif S, Hegen B, Hempel M, Henning S, Hoerning A, Houwen R, Hughes J, Iorio R, Iwanicka-Pronicka K, Jankofsky M, Junge N, Kanavaki I, Kansu A, Kaspar S, Kathemann S, Kelly D, Kirsaçlioglu CT, Knoppke B, Kohl M, Kölbel H, Kölker S, Konstantopoulou V, Krylova T, Kuloglu Z, Kuster A, Laass MW, Lainka E, Lurz E, Mandel H, Mayerhanser K, Mayr JA, McKiernan P, McLean P, McLin V, Mention K, Müller H, Pasquier L, Pavlov M, Pechatnikova N, Peters B, Petkovic Ramadža D, Piekutowska-Abramczuk D, Pilic D, Rajwal S, Rock N, Roetig A, Santer R, Schenk W, Semenova N, Sokollik C, Sturm E, Taylor RW, Tschiedel E, Urbonas V, Urreizti R, Vermehren J, Vockley J, Vogel GF, Wagner M, van der Woerd W, Wortmann SB, Zakharova E, Hoffmann GF, Meitinger T, Murayama K, Staufner C and Prokisch H.

    Genetic landscape of pediatric acute liver failure of indeterminate origin.

    HEPATOLOGY . : .

    [doi:10.1097/HEP.0000000000000684]