Equip Humà

Gemma Marfany Nadal

Buscador de publicacions

Publicacions

  • 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.

    [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.

    [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. Nº de cites: 1

    [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): . Nº de cites: 2

    [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. Nº de cites: 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. Nº de cites: 3

    [doi:10.3390/ijms23179682]

  • Toulis V, Casaroli-Marano R, Camós-Carreras A, Figueras-Roca M, Sánchez-Dalmau B, Muñoz E, Ashraf NS, Ferreira AF, Khan N, Marfany G and do Carmo Costa M.

    Altered retinal structure and function in Spinocerebellar ataxia type 3.

    NEUROBIOLOGY OF DISEASE . 170: 105774-105774. Nº de cites: 3

    [doi:10.1016/j.nbd.2022.105774]

  • Luque J, Mendes I, Gómez B, Morte B, de Heredia ML, Herreras E, Corrochano V, Bueren J, Gallano P, Artuch-Iriberri R, Fillat C, Pérez-Jurado LA, Montoliu L, Carracedo Á, Millán JM, Webb SM, Palau F, CIBERER Network and Lapunzina P.

    CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative

    CLINICAL GENETICS . 101(5-6): 481-493. Nº de cites: 4

    [doi:10.1111/cge.14113]

  • García-Arroyo R, Gavaldà-Navarro A, Villarroya-Gombau F, Marfany G and Mirra S.

    Overexpression of CERKL Protects Retinal Pigment Epithelium Mitochondria from Oxidative Stress Effects.

    ANTIOXIDANTS . 10(12): 2018. Nº de cites: 4

    [doi:10.3390/antiox10122018]

  • Mirra S, Arroyo RG, Domènech EB, Gavaldà-Navarro A, Herrera-Úbeda C, Oliva C, Garcia-Fernàndez J, Artuch-Iriberri R, Villarroya-Gombau F and Marfany G.

    CERKL, a retinal dystrophy gene, regulates mitochondrial function and dynamics in the mammalian retina.

    NEUROBIOLOGY OF DISEASE . 156: 105405-105405. Nº de cites: 12

    [doi:10.1016/j.nbd.2021.105405]