Research

Human Molecular Genetics II

Search publications

Publications

  • Aísa-Marín I, Rovira Q, Díaz N, Calvo-López L, Vaquerizas JM and Marfany G.

    Specific photoreceptor cell fate pathways are differentially altered in NR2E3-associated diseases

    NEUROBIOLOGY OF DISEASE . 194: 106463-106463. Number of citations: 1

    [doi:10.1016/j.nbd.2024.106463]

  • Baz-Redón N, Sánchez-Bellver L, Fernández-Cancio M, Rovira-Amigo S, Burgoyne T, Ranjit R, Aquino V, Toro-Barrios N, Carmona R, Polverino E, Cols M, Moreno-Galdó A, Camats-Tarruella N and Marfany G.

    Primary Ciliary Dyskinesia and Retinitis Pigmentosa: Novel RPGR Variant and Possible Modifier Gene

    Cells . 13(6): .

    [doi:10.3390/cells13060524]

  • Izquierdo-Villalba I, Mirra S, Manso Y, Parcerisas A, Rubio J, Del Valle J, Gil-Bea FJ, Ulloa F, Herrero-Lorenzo M, Verdaguer E, Benincá C, Castro-Torres RD, Rebollo E, Marfany G, Auladell C, Navarro X, Enríquez JA, López de Munain A, Soriano E and Aragay AM.

    A mammalian-specific Alex3/Gaq protein complex regulates mitochondrial trafficking, dendritic complexity, and neuronal survival

    SCIENCE SIGNALING . 17(822): 1007-1007.

    [doi:10.1126/scisignal.abq1007]

  • Mirra S and Marfany G.

    From Beach to the Bedside: Harnessing Mitochondrial Function in Human Diseases Using New Marine-Derived Strategies

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 25(2): . Number of citations: 1

    [doi:10.3390/ijms25020834]

  • García-Arroyo R, Domènech EB, Herrera-Úbeda C, Asensi MA, Núñez de Arenas C, Cuezva JM, Garcia-Fernàndez J, Pallardó FV, Mirra S and Marfany G.

    Exacerbated response to oxidative stress in the Retinitis Pigmentosa CerklKD/KO mouse model triggers retinal degeneration pathways upon acute light stress

    REDOX BIOLOGY . 66: 102862-102862. Number of citations: 3

    [doi:10.1016/j.redox.2023.102862]

  • Barbeito P, Martin-Morales R, Palencia-Campos A, Cerrolaza J, Rivas-Santos C, Gallego-Colastra L, Caparros-Martin JA, Martin-Bravo C, Martin-Hurtado A, Sánchez-Bellver L, Marfany G, Ruiz-Perez VL and Garcia-Gonzalo FR.

    EVC-EVC2 complex stability and ciliary targeting are regulated by modification with ubiquitin and SUMO

    Frontiers in Cell and Developmental Biology . 11: 1190258-1190258. Number of citations: 3

    [doi:10.3389/fcell.2023.1190258]

  • Castilla-Vallmanya L, Centeno-Pla M, Serrano M, Franco-Valls, H, Martinez-Cabrera, R, Prat-Planas, A, Rojano, E, Ranea, JAG, Seoane, P, Oliva-Mussara C, Paredes-Fuentes, AJ, Marfany G, Artuch-Iriberri R, Grinberg-Vaisman DR, Rabionet-Janssen R, Balcells S and Urreizti R.

    Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2

    JOURNAL OF MEDICAL GENETICS . 60(4): 406-415. Number of citations: 4

    [doi:10.1136/jmg-2022-108690]

  • Sánchez-Bellver L, Férriz-Gordillo A, Carrillo-Pz M, Rabanal L, Garcia-Gonzalo FR and Marfany G.

    The Deubiquitinating Enzyme USP48 Interacts with the Retinal Degeneration-Associated Proteins UNC119a and ARL3

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 23(20): . Number of citations: 5

    [doi:10.3390/ijms232012527]

  • García-Arroyo R, Marfany G and Mirra S.

    CERKL, a Retinal Dystrophy Gene, Regulates Mitochondrial Transport and Dynamics in Hippocampal Neurons

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 23(19): 11593. Number of citations: 2

    [doi:10.3390/ijms231911593]

  • Mirra S, Sánchez-Bellver L, Casale C, Pescatore A and Marfany G.

    Ubiquitin Specific Protease USP48 Destabilizes NF-?B/p65 in Retinal Pigment Epithelium Cells

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 23(17): 9682. Number of citations: 8

    [doi:10.3390/ijms23179682]