Search Results - "Fdez, Elena"
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RAB8, RAB10 and RILPL1 contribute to both LRRK2 kinase-mediated centrosomal cohesion and ciliogenesis deficits
Published in Human molecular genetics (01-11-2019)“…Mutations in the LRRK2 kinase are the most common cause of familial Parkinson's disease, and variants increase risk for the sporadic form of the disease. LRRK2…”
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LRRK2 delays degradative receptor trafficking by impeding late endosomal budding through decreasing Rab7 activity
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
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
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
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
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
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
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
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 potential patient stratification biomarker for Parkinson´s disease based on LRRK2 kinase-mediated centrosomal alterations in peripheral blood-derived cells
Published in NPJ Parkinson's Disease (08-01-2024)“…Parkinson´s disease (PD) is a common neurodegenerative movement disorder and leucine-rich repeat kinase 2 (LRRK2) is a promising therapeutic target for disease…”
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A Link between Autophagy and the Pathophysiology of LRRK2 in Parkinson's Disease
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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Sexy Regulation of SNARE-Mediated Membrane Fusion by Local Lipid Metabolism
Published in Frontiers in synaptic neuroscience (2010)Get full text
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GTP binding regulates cellular localization of Parkinson's disease-associated LRRK2
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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Iron overload causes endolysosomal deficits modulated by NAADP-regulated 2-pore channels and RAB7A
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
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
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
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
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
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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Upstream deregulation of calcium signaling in Parkinson’s disease
Published in Frontiers in molecular neuroscience (17-06-2014)Get full text
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