Works by Vives-Bauza, Cristofol

Results: 14
    1

    Familial Psychosis Associated With a Missense Mutation at MACF1 Gene Combined With the Rare Duplications DUP3p26.3 and DUP16q23.3, Affecting the CNTN6 and CDH13 Genes.

    Published in:
    Frontiers in Genetics, 2021, v. 11, p. N.PAG, doi. 10.3389/fgene.2021.622886
    By:
    • Pol-Fuster, Josep;
    • Cañellas, Francesca;
    • Ruiz-Guerra, Laura;
    • Medina-Dols, Aina;
    • Bisbal-Carrió, Bàrbara;
    • Asensio, Víctor;
    • Ortega-Vila, Bernat;
    • Marzese, Diego;
    • Vidal, Carme;
    • Santos, Carmen;
    • Lladó, Jerònia;
    • Olmos, Gabriel;
    • Heine-Suñer, Damià;
    • Strauch, Konstantin;
    • Flaquer, Antònia;
    • Vives-Bauzà, Cristòfol
    Publication type:
    Article
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    CHCHD10 mutations promote loss of mitochondrial cristae junctions with impaired mitochondrial genome maintenance and inhibition of apoptosis.

    Published in:
    EMBO Molecular Medicine, 2016, v. 8, n. 1, p. 58, doi. 10.15252/emmm.201505496
    By:
    • Genin, Emmanuelle C;
    • Plutino, Morgane;
    • Bannwarth, Sylvie;
    • Villa, Elodie;
    • Cisneros‐Barroso, Eugenia;
    • Roy, Madhuparna;
    • Ortega‐Vila, Bernardo;
    • Fragaki, Konstantina;
    • Lespinasse, Françoise;
    • Pinero‐Martos, Estefania;
    • Augé, Gaëlle;
    • Moore, David;
    • Burté, Florence;
    • Lacas‐Gervais, Sandra;
    • Kageyama, Yusuke;
    • Itoh, Kie;
    • Yu‐Wai‐Man, Patrick;
    • Sesaki, Hiromi;
    • Ricci, Jean‐Ehrland;
    • Vives‐Bauza, Cristofol
    Publication type:
    Article
    7

    PINK1 points Parkin to mitochondria.

    Published in:
    Autophagy, 2010, v. 6, n. 5, p. 674, doi. 10.4161/auto.6.5.12068
    By:
    • Vives-Bauza, Cristofol;
    • Przedborski, Serge
    Publication type:
    Article
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    The conserved ASTN2/BRINP1 locus at 9q33.1–33.2 is associated with major psychiatric disorders in a large pedigree from Southern Spain.

    Published in:
    Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-93555-4
    By:
    • Pol-Fuster, Josep;
    • Cañellas, Francesca;
    • Ruiz-Guerra, Laura;
    • Medina-Dols, Aina;
    • Bisbal-Carrió, Bàrbara;
    • Ortega-Vila, Bernat;
    • Llinàs, Jaume;
    • Hernandez-Rodriguez, Jessica;
    • Lladó, Jerònia;
    • Olmos, Gabriel;
    • Strauch, Konstantin;
    • Heine-Suñer, Damià;
    • Vives-Bauzà, Cristòfol;
    • Flaquer, Antònia
    Publication type:
    Article
    12

    Disrupted in schizophrenia 1 (DISC1) is a constituent of the mammalian mitochondrial contact site and cristae organizing system (MICOS) complex, and is essential for oxidative phosphorylation.

    Published in:
    Human Molecular Genetics, 2016, v. 25, n. 19, p. 4157, doi. 10.1093/hmg/ddw250
    By:
    • Piñero-Martos, Estefania;
    • Ortega-Vila, Bernardo;
    • Pol-Fuster, Josep;
    • Cisneros-Barroso, Eugenia;
    • Ruiz-Guerra, Laura;
    • Medina-Dols, Aina;
    • Heine-Suñer, Damian;
    • Llado, Jeronia;
    • Olmos, Gabriel;
    • Vives-Bauzà, Cristofol
    Publication type:
    Article
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    14

    NOTCH3 Variant Position Affects the Phenotype at the Pluripotent Stem Cell Level in CADASIL.

    Published in:
    NeuroMolecular Medicine, 2025, v. 27, n. 1, p. 1, doi. 10.1007/s12017-025-08840-6
    By:
    • Bugallo-Casal, Ana;
    • Muiño, Elena;
    • Bravo, Susana B.;
    • Hervella, Pablo;
    • Arias-Rivas, Susana;
    • Rodríguez-Yáñez, Manuel;
    • Vara-León, Enrique;
    • Quintas-Rey, Rita;
    • Pérez-Gayol, Lara;
    • Maisterra-Santos, Olga;
    • Pizarro-Gonzálvez, Jesús;
    • Martorell-Riera, María Rosa;
    • Vives-Bauzá, Cristòfol;
    • Fernández-Cadenas, Israel;
    • Castillo, José;
    • Campos, Francisco
    Publication type:
    Article