Search Results - "Fdez, Elena"

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    LRRK2 delays degradative receptor trafficking by impeding late endosomal budding through decreasing Rab7 activity by Gómez-Suaga, Patricia, Rivero-Ríos, Pilar, Fdez, Elena, Blanca Ramírez, Marian, Ferrer, Isidro, Aiastui, Ana, López De Munain, Adolfo, Hilfiker, Sabine

    Published in Human molecular genetics (20-12-2014)
    “…Mutations in the leucine-rich repeat kinase 2 (LRRK2) gene cause late-onset autosomal dominant Parkinson's disease (PD), and sequence variations at the LRRK2…”
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    Iron-induced cytotoxicity mediated by endolysosomal TRPML1 channels is reverted by TFEB by Fernández, Belén, Olmedo, Pablo, Gil, Fernando, Fdez, Elena, Naaldijk, Yahaira, Rivero-Ríos, Pilar, Bracher, Franz, Grimm, Christian, Churchill, Grant C., Hilfiker, Sabine

    Published in Cell death & disease (16-12-2022)
    “…Increased brain iron content has been consistently reported in sporadic Parkinson’s disease (PD) patients, and an increase in cytosolic free iron is known to…”
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    Distinct Roles for RAB10 and RAB29 in Pathogenic LRRK2-Mediated Endolysosomal Trafficking Alterations by Rivero-Ríos, Pilar, Romo-Lozano, Maria, Fernández, Belén, Fdez, Elena, Hilfiker, Sabine

    Published in Cells (Basel, Switzerland) (17-07-2020)
    “…Mutations in the gene encoding leucine-rich repeat kinase 2 (LRRK2) cause familial Parkinson's disease, and sequence variations are associated with the…”
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    RAB7L1-Mediated Relocalization of LRRK2 to the Golgi Complex Causes Centrosomal Deficits via RAB8A by Madero-Pérez, Jesús, Fernández, Belén, Lara Ordóñez, Antonio Jesús, Fdez, Elena, Lobbestael, Evy, Baekelandt, Veerle, Hilfiker, Sabine

    Published in Frontiers in molecular neuroscience (13-11-2018)
    “…Mutations in the LRRK2 gene cause autosomal-dominant Parkinson's disease (PD), and both LRRK2 as well as RAB7L1 have been implicated in increased…”
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    The LRRK2 signaling network converges on a centriolar phospho-Rab10/RILPL1 complex to cause deficits in centrosome cohesion and cell polarization by Lara Ordóñez, Antonio Jesús, Fasiczka, Rachel, Fernández, Belén, Naaldijk, Yahaira, Fdez, Elena, Blanca Ramírez, Marian, Phan, Sébastien, Boassa, Daniela, Hilfiker, Sabine

    Published in Biology open (01-08-2022)
    “…ABSTRACT The Parkinson's-disease-associated LRRK2 kinase phosphorylates multiple Rab GTPases including Rab8 and Rab10, which enhances their binding to RILPL1…”
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    Protocol to measure centrosome cohesion deficits mediated by pathogenic LRRK2 in cultured cells using confocal microscopy by Fdez, Elena, Fasiczka, Rachel, Lara Ordóñez, Antonio Jesús, Fernández, Belén, Naaldijk, Yahaira, Hilfiker, Sabine

    Published in STAR protocols (17-03-2023)
    “…The present protocol allows for quantification of inter-centrosome distances in G2 phase cells by confocal fluorescence microscopy to determine centrosome…”
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    Pathogenic LRRK2 regulates centrosome cohesion via Rab10/RILPL1-mediated CDK5RAP2 displacement by Fdez, Elena, Madero-Pérez, Jesús, Lara Ordóñez, Antonio J., Naaldijk, Yahaira, Fasiczka, Rachel, Aiastui, Ana, Ruiz-Martínez, Javier, López de Munain, Adolfo, Cowley, Sally A., Wade-Martins, Richard, Hilfiker, Sabine

    Published in iScience (17-06-2022)
    “…Mutations in LRRK2 increase its kinase activity and cause Parkinson's disease. LRRK2 phosphorylates a subset of Rab proteins which allows for their binding to…”
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    Cellular effects mediated by pathogenic LRRK2: homing in on Rab-mediated processes by Madero-Pérez, Jesús, Fdez, Elena, Fernández, Belén, Lara Ordóñez, Antonio Jesús, Blanca Ramírez, Marian, Romo Lozano, María, Rivero-Ríos, Pilar, Hilfiker, Sabine

    Published in Biochemical Society transactions (08-02-2017)
    “…Leucine-rich repeat kinase 2 (LRRK2) is a key player in the pathogenesis of Parkinson's disease. Mutations in LRRK2 are associated with increased kinase…”
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    A Link between Autophagy and the Pathophysiology of LRRK2 in Parkinson's Disease by Gómez-Suaga, Patricia, Fdez, Elena, Blanca Ramírez, Marian, Hilfiker, Sabine

    Published in Parkinson's disease (01-01-2012)
    “…Parkinson's disease is a debilitating neurodegenerative disorder, and its molecular etiopathogenesis remains poorly understood. The discovery of monogenic…”
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    GTP binding regulates cellular localization of Parkinson's disease-associated LRRK2 by Blanca Ramírez, Marian, Lara Ordóñez, Antonio Jesús, Fdez, Elena, Madero-Pérez, Jesús, Gonnelli, Adriano, Drouyer, Matthieu, Chartier-Harlin, Marie-Christine, Taymans, Jean-Marc, Bubacco, Luigi, Greggio, Elisa, Hilfiker, Sabine

    Published in Human molecular genetics (15-07-2017)
    “…Mutations in leucine-rich repeat kinase 2 (LRRK2) comprise the most common cause of familial Parkinson's disease (PD), and sequence variants modify risk for…”
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    Journal Article
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    Iron overload causes endolysosomal deficits modulated by NAADP-regulated 2-pore channels and RAB7A by Fernández, Belén, Fdez, Elena, Gómez-Suaga, Patricia, Gil, Fernando, Molina-Villalba, Isabel, Ferrer, Isidro, Patel, Sandip, Churchill, Grant C., Hilfiker, Sabine

    Published in Autophagy (01-09-2016)
    “…Various neurodegenerative disorders are associated with increased brain iron content. Iron is known to cause oxidative stress, which concomitantly promotes…”
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    Vesicle pools and synapsins: new insights into old enigmas by Fdez, Elena, Hilfiker, Sabine

    Published in Brain cell biology (01-06-2006)
    “…Synapsins are a multigene family of neuron-specific phosphoproteins and comprise the most abundant synaptic vesicle proteins. They have been proposed to tether…”
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    Upstream deregulation of calcium signaling in Parkinson's disease by Rivero-Ríos, Pilar, Gómez-Suaga, Patricia, Fdez, Elena, Hilfiker, Sabine

    Published in Frontiers in molecular neuroscience (17-06-2014)
    “…Parkinson's disease (PD) is a major health problem affecting millions of people worldwide. Recent studies provide compelling evidence that altered Ca(2) (+)…”
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    Transmembrane-domain determinants for SNARE-mediated membrane fusion by Fdez, Elena, Martínez-Salvador, Mar, Beard, Matthew, Woodman, Philip, Hilfiker, Sabine

    Published in Journal of cell science (15-07-2010)
    “…Neurosecretion involves fusion of vesicles with the plasma membrane. Such membrane fusion is mediated by the SNARE complex, which is composed of the…”
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    LRRK2: from kinase to GTPase to microtubules and back by Blanca Ramírez, Marian, Lara Ordóñez, Antonio Jesús, Fdez, Elena, Hilfiker, Sabine

    Published in Biochemical Society transactions (08-02-2017)
    “…Mutations in the ( ) gene are intimately linked to both familial and sporadic Parkinson's disease. LRRK2 is a large protein kinase able to bind and hydrolyse…”
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    LRRK2 and Parkinson's Disease: From Lack of Structure to Gain of Function by Blanca Ramírez, Marian, Madero-Perez, Jesus, Rivero-Rios, Pilar, Martinez-Salvador, Mar, Lara Ordonez, Antonio J, Fernandez, Belen, Fdez, Elena, Hilfiker, Sabine

    Published in Current protein & peptide science (01-01-2017)
    “…Mutations in LRRK2 comprise the most common cause for familial Parkinson's disease (PD), and variations increase risk for sporadic disease, implicating LRRK2…”
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