Diana C Muñoz-Lasso, Belén Mollá, Pablo Calap-Quintana, José Luis García-Giménez, Federico V Pallardo, Francesc Palau, Pilar Gonzalez-Cabo. Sci Rep 2020
Times Cited: 11
Times Cited: 11
Times Cited
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Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits.
H Puccio, D Simon, M Cossée, P Criqui-Filipe, F Tiziano, J Melki, C Hindelang, R Matyas, P Rustin, M Koenig. Nat Genet 2001
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Mitochondrial dysfunction induced by frataxin deficiency is associated with cellular senescence and abnormal calcium metabolism.
Arantxa Bolinches-Amorós, Belén Mollá, David Pla-Martín, Francesc Palau, Pilar González-Cabo. Front Cell Neurosci 2014
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Mitochondrial pathophysiology in Friedreich's ataxia.
Pilar González-Cabo, Francesc Palau. J Neurochem 2013
Pilar González-Cabo, Francesc Palau. J Neurochem 2013
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The dentate nucleus in Friedreich's ataxia: the role of iron-responsive proteins.
Arnulf H Koeppen, Susan C Michael, Mitchell D Knutson, David J Haile, Jiang Qian, Sonia Levi, Paolo Santambrogio, Michael D Garrick, Jacques B Lamarche. Acta Neuropathol 2007
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Reversible Axonal Dystrophy by Calcium Modulation in Frataxin-Deficient Sensory Neurons of YG8R Mice.
Belén Mollá, Diana C Muñoz-Lasso, Fátima Riveiro, Arantxa Bolinches-Amorós, Federico V Pallardó, Angel Fernandez-Vilata, María de la Iglesia-Vaya, Francesc Palau, Pilar Gonzalez-Cabo. Front Mol Neurosci 2017
Belén Mollá, Diana C Muñoz-Lasso, Fátima Riveiro, Arantxa Bolinches-Amorós, Federico V Pallardó, Angel Fernandez-Vilata, María de la Iglesia-Vaya, Francesc Palau, Pilar Gonzalez-Cabo. Front Mol Neurosci 2017
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Mortality in Friedreich ataxia.
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Clinical, biochemical and molecular genetic correlations in Friedreich's ataxia.
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Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes.
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Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion.
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Functional genomic analysis of frataxin deficiency reveals tissue-specific alterations and identifies the PPARgamma pathway as a therapeutic target in Friedreich's ataxia.
Giovanni Coppola, Daniele Marmolino, Daning Lu, Qing Wang, Miriam Cnop, Myriam Rai, Fabio Acquaviva, Sergio Cocozza, Massimo Pandolfo, Daniel H Geschwind. Hum Mol Genet 2009
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Calcium Deregulation: Novel Insights to Understand Friedreich's Ataxia Pathophysiology.
Rosella Abeti, Alexander F Brown, Marta Maiolino, Sandip Patel, Paola Giunti. Front Cell Neurosci 2018
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Actin glutathionylation increases in fibroblasts of patients with Friedreich's ataxia: a potential role in the pathogenesis of the disease.
Anna Pastore, Giulia Tozzi, Laura Maria Gaeta, Enrico Bertini, Valentina Serafini, Silvia Di Cesare, Valentina Bonetto, Filippo Casoni, Rosalba Carrozzo, Giorgio Federici,[...]. J Biol Chem 2003
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Apoptotic cell death and altered calcium homeostasis caused by frataxin depletion in dorsal root ganglia neurons can be prevented by BH4 domain of Bcl-xL protein.
Stefka Mincheva-Tasheva, Elia Obis, Jordi Tamarit, Joaquim Ros. Hum Mol Genet 2014
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Mitochondrial pore opening and loss of Ca2+ exchanger NCLX levels occur after frataxin depletion.
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Deferiprone and idebenone rescue frataxin depletion phenotypes in a Drosophila model of Friedreich's ataxia.
Sirena Soriano, José V Llorens, Laura Blanco-Sobero, Lucía Gutiérrez, Pablo Calap-Quintana, M Puerto Morales, M Dolores Moltó, M José Martínez-Sebastián. Gene 2013
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Dimethyl fumarate dosing in humans increases frataxin expression: A potential therapy for Friedreich's Ataxia.
Mittal Jasoliya, Francesco Sacca, Sunil Sahdeo, Frederic Chedin, Chiara Pane, Vincenzo Brescia Morra, Alessandro Filla, Mark Pook, Gino Cortopassi. PLoS One 2019
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Safety, pharmacodynamics, and potential benefit of omaveloxolone in Friedreich ataxia.
David R Lynch, Jennifer Farmer, Lauren Hauser, Ian A Blair, Qing Qing Wang, Clementina Mesaros, Nathaniel Snyder, Sylvia Boesch, Melanie Chin, Martin B Delatycki,[...]. Ann Clin Transl Neurol 2018
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Deficit of in vivo mitochondrial ATP production in patients with Friedreich ataxia.
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Early cerebellar deficits in mitochondrial biogenesis and respiratory chain complexes in the KIKO mouse model of Friedreich ataxia.
Hong Lin, Jordi Magrane, Amy Rattelle, Anna Stepanova, Alexander Galkin, Elisia M Clark, Yi Na Dong, Sarah M Halawani, David R Lynch. Dis Model Mech 2017
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GAA repeat expansion mutation mouse models of Friedreich ataxia exhibit oxidative stress leading to progressive neuronal and cardiac pathology.
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Physiologically relevant reconstitution of iron-sulfur cluster biosynthesis uncovers persulfide-processing functions of ferredoxin-2 and frataxin.
Sylvain Gervason, Djabir Larkem, Amir Ben Mansour, Thomas Botzanowski, Christina S Müller, Ludovic Pecqueur, Gwenaelle Le Pavec, Agnès Delaunay-Moisan, Omar Brun, Jordi Agramunt,[...]. Nat Commun 2019
Sylvain Gervason, Djabir Larkem, Amir Ben Mansour, Thomas Botzanowski, Christina S Müller, Ludovic Pecqueur, Gwenaelle Le Pavec, Agnès Delaunay-Moisan, Omar Brun, Jordi Agramunt,[...]. Nat Commun 2019
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Friedreich ataxia: neuropathology revised.
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The cardiomyopathy of Friedreich's ataxia morphological observations in 3 cases.
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Frataxin activates mitochondrial energy conversion and oxidative phosphorylation.
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Deferiprone in Friedreich ataxia: a 6-month randomized controlled trial.
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Compound heterozygous FXN mutations and clinical outcome in friedreich ataxia.
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Prevention and reversal of severe mitochondrial cardiomyopathy by gene therapy in a mouse model of Friedreich's ataxia.
Morgane Perdomini, Brahim Belbellaa, Laurent Monassier, Laurence Reutenauer, Nadia Messaddeq, Nathalie Cartier, Ronald G Crystal, Patrick Aubourg, Hélène Puccio. Nat Med 2014
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The dorsal root ganglion in Friedreich's ataxia.
Arnulf H Koeppen, Jennifer A Morral, Ashley N Davis, Jiang Qian, Simone V Petrocine, Mitchell D Knutson, Walter M Gibson, Matthew J Cusack, Danhong Li. Acta Neuropathol 2009
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Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia.
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Elucidation of the mechanism of mitochondrial iron loading in Friedreich's ataxia by analysis of a mouse mutant.
Michael Li-Hsuan Huang, Erika M Becker, Megan Whitnall, Yohan Suryo Rahmanto, Prem Ponka, Des R Richardson. Proc Natl Acad Sci U S A 2009
Michael Li-Hsuan Huang, Erika M Becker, Megan Whitnall, Yohan Suryo Rahmanto, Prem Ponka, Des R Richardson. Proc Natl Acad Sci U S A 2009
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Evolution of the Friedreich's ataxia trinucleotide repeat expansion: founder effect and premutations.
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Tissue atrophy and elevated iron concentration in the extrapyramidal motor system in Friedreich ataxia: the IMAGE-FRDA study.
Ian H Harding, Parnesh Raniga, Martin B Delatycki, Monique R Stagnitti, Louise A Corben, Elsdon Storey, Nellie Georgiou-Karistianis, Gary F Egan. J Neurol Neurosurg Psychiatry 2016
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Rapid and Complete Reversal of Sensory Ataxia by Gene Therapy in a Novel Model of Friedreich Ataxia.
Françoise Piguet, Charline de Montigny, Nadège Vaucamps, Laurence Reutenauer, Aurélie Eisenmann, Hélène Puccio. Mol Ther 2018
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Human frataxin is an allosteric switch that activates the Fe-S cluster biosynthetic complex.
Chi-Lin Tsai, David P Barondeau. Biochemistry 2010
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Friedreich's ataxia: pathology, pathogenesis, and molecular genetics.
Arnulf H Koeppen. J Neurol Sci 2011
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Frataxin deficiency in neonatal rat ventricular myocytes targets mitochondria and lipid metabolism.
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Altered lipid metabolism in a Drosophila model of Friedreich's ataxia.
Juan A Navarro, Elisabeth Ohmann, Diego Sanchez, José A Botella, Gerhard Liebisch, María D Moltó, María D Ganfornina, Gerd Schmitz, Stephan Schneuwly. Hum Mol Genet 2010
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Frataxin deficiency impairs mitochondrial biogenesis in cells, mice and humans.
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PGC-1alpha down-regulation affects the antioxidant response in Friedreich's ataxia.
Daniele Marmolino, Mario Manto, Fabio Acquaviva, Paola Vergara, Ajay Ravella, Antonella Monticelli, Massimo Pandolfo. PLoS One 2010
Daniele Marmolino, Mario Manto, Fabio Acquaviva, Paola Vergara, Ajay Ravella, Antonella Monticelli, Massimo Pandolfo. PLoS One 2010
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Frataxin deficiency leads to defects in expression of antioxidants and Nrf2 expression in dorsal root ganglia of the Friedreich's ataxia YG8R mouse model.
Yuxi Shan, Robert A Schoenfeld, Genki Hayashi, Eleonora Napoli, Tasuku Akiyama, Mirela Iodi Carstens, Earl E Carstens, Mark A Pook, Gino A Cortopassi. Antioxid Redox Signal 2013
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Frataxin acts as an iron chaperone protein to modulate mitochondrial aconitase activity.
Anne-Laure Bulteau, Heather A O'Neill, Mary Claire Kennedy, Masao Ikeda-Saito, Grazia Isaya, Luke I Szweda. Science 2004
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Changes in mitochondrial glutathione levels and protein thiol oxidation in ∆yfh1 yeast cells and the lymphoblasts of patients with Friedreich's ataxia.
A L Bulteau, S Planamente, L Jornea, A Dur, E Lesuisse, J M Camadro, F Auchère. Biochim Biophys Acta 2012
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Much More Than a Scaffold: Cytoskeletal Proteins in Neurological Disorders.
Diana C Muñoz-Lasso, Carlos Romá-Mateo, Federico V Pallardó, Pilar Gonzalez-Cabo. Cells 2020
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Actin dynamics, architecture, and mechanics in cell motility.
Laurent Blanchoin, Rajaa Boujemaa-Paterski, Cécile Sykes, Julie Plastino. Physiol Rev 2014
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Regulators of actin filament barbed ends at a glance.
Shashank Shekhar, Julien Pernier, Marie-France Carlier. J Cell Sci 2016
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A novel GAA-repeat-expansion-based mouse model of Friedreich's ataxia.
Sara Anjomani Virmouni, Vahid Ezzatizadeh, Chiranjeevi Sandi, Madhavi Sandi, Sahar Al-Mahdawi, Yogesh Chutake, Mark A Pook. Dis Model Mech 2015
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Charge-dependent interactions of monomeric and filamentous actin with lipid bilayers.
Carsten F E Schroer, Lucia Baldauf, Lennard van Buren, Tsjerk A Wassenaar, Manuel N Melo, Gijsje H Koenderink, Siewert J Marrink. Proc Natl Acad Sci U S A 2020
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ADF/Cofilin-Mediated Actin Turnover Promotes Axon Regeneration in the Adult CNS.
Andrea Tedeschi, Sebastian Dupraz, Michele Curcio, Claudia J Laskowski, Barbara Schaffran, Kevin C Flynn, Telma E Santos, Sina Stern, Brett J Hilton, Molly J E Larson,[...]. Neuron 2019
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Cofilin 2 in Serum as a Novel Biomarker for Alzheimer's Disease in Han Chinese.
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Co-cited is the co-citation frequency, indicating how many articles cite the article together with the query article. Similarity is the co-citation as percentage of the times cited of the query article or the article in the search results, whichever is the lowest. These numbers are calculated for the last 100 citations when articles are cited more than 100 times.