Tommaso Vannocci, Roberto Notario Manzano, Ombretta Beccalli, Barbara Bettegazzi, Fabio Grohovaz, Gianfelice Cinque, Antonio de Riso, Luca Quaroni, Franca Codazzi, Annalisa Pastore. Dis Model Mech 2018
Times Cited: 19
Times Cited: 19
Times Cited
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Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion.
V Campuzano, L Montermini, M D Moltò, L Pianese, M Cossée, F Cavalcanti, E Monros, F Rodius, F Duclos, A Monticelli,[...]. Science 1996
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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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Excision of Expanded GAA Repeats Alleviates the Molecular Phenotype of Friedreich's Ataxia.
Yanjie Li, Urszula Polak, Angela D Bhalla, Natalia Rozwadowska, Jill Sergesketter Butler, David R Lynch, Sharon Y R Dent, Marek Napierala. Mol Ther 2015
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Overexpression of human and fly frataxins in Drosophila provokes deleterious effects at biochemical, physiological and developmental levels.
Juan A Navarro, José V Llorens, Sirena Soriano, José A Botella, Stephan Schneuwly, María J Martínez-Sebastián, María D Moltó. PLoS One 2011
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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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Inducible and reversible phenotypes in a novel mouse model of Friedreich's Ataxia.
Vijayendran Chandran, Kun Gao, Vivek Swarup, Revital Versano, Hongmei Dong, Maria C Jordan, Daniel H Geschwind. Elife 2017
Vijayendran Chandran, Kun Gao, Vivek Swarup, Revital Versano, Hongmei Dong, Maria C Jordan, Daniel H Geschwind. Elife 2017
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Inactivation of the Friedreich ataxia mouse gene leads to early embryonic lethality without iron accumulation.
M Cossée, H Puccio, A Gansmuller, H Koutnikova, A Dierich, M LeMeur, K Fischbeck, P Dollé, M Koenig. Hum Mol Genet 2000
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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
Françoise Piguet, Charline de Montigny, Nadège Vaucamps, Laurence Reutenauer, Aurélie Eisenmann, Hélène Puccio. Mol Ther 2018
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Neurons and cardiomyocytes derived from induced pluripotent stem cells as a model for mitochondrial defects in Friedreich's ataxia.
Aurore Hick, Marie Wattenhofer-Donzé, Satyan Chintawar, Philippe Tropel, Jodie P Simard, Nadège Vaucamps, David Gall, Laurie Lambot, Cécile André, Laurence Reutenauer,[...]. Dis Model Mech 2013
Aurore Hick, Marie Wattenhofer-Donzé, Satyan Chintawar, Philippe Tropel, Jodie P Simard, Nadège Vaucamps, David Gall, Laurie Lambot, Cécile André, Laurence Reutenauer,[...]. Dis Model Mech 2013
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The Friedreich ataxia GAA repeat expansion mutation induces comparable epigenetic changes in human and transgenic mouse brain and heart tissues.
Sahar Al-Mahdawi, Ricardo Mouro Pinto, Ozama Ismail, Dhaval Varshney, Stefania Lymperi, Chiranjeevi Sandi, Daniah Trabzuni, Mark Pook. Hum Mol Genet 2008
Sahar Al-Mahdawi, Ricardo Mouro Pinto, Ozama Ismail, Dhaval Varshney, Stefania Lymperi, Chiranjeevi Sandi, Daniah Trabzuni, Mark Pook. Hum Mol Genet 2008
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High Levels of Frataxin Overexpression Lead to Mitochondrial and Cardiac Toxicity in Mouse Models.
Brahim Belbellaa, Laurence Reutenauer, Nadia Messaddeq, Laurent Monassier, Hélène Puccio. Mol Ther Methods Clin Dev 2020
Brahim Belbellaa, Laurence Reutenauer, Nadia Messaddeq, Laurent Monassier, Hélène Puccio. Mol Ther Methods Clin Dev 2020
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The role of oxidative stress in Friedreich's ataxia.
Federica Lupoli, Tommaso Vannocci, Giovanni Longo, Neri Niccolai, Annalisa Pastore. FEBS Lett 2018
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Selected missense mutations impair frataxin processing in Friedreich ataxia.
Elisia Clark, Jill S Butler, Charles J Isaacs, Marek Napierala, David R Lynch. Ann Clin Transl Neurol 2017
Elisia Clark, Jill S Butler, Charles J Isaacs, Marek Napierala, David R Lynch. Ann Clin Transl Neurol 2017
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R-loops associated with triplet repeat expansions promote gene silencing in Friedreich ataxia and fragile X syndrome.
Matthias Groh, Michele M P Lufino, Richard Wade-Martins, Natalia Gromak. PLoS Genet 2014
Matthias Groh, Michele M P Lufino, Richard Wade-Martins, Natalia Gromak. PLoS Genet 2014
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Synthetic transcription elongation factors license transcription across repressive chromatin.
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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
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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Histone deacetylase inhibitors reverse gene silencing in Friedreich's ataxia.
David Herman, Kai Jenssen, Ryan Burnett, Elisabetta Soragni, Susan L Perlman, Joel M Gottesfeld. Nat Chem Biol 2006
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Somatic instability of the expanded GAA repeats in Friedreich's ataxia.
Ashlee Long, Jill S Napierala, Urszula Polak, Lauren Hauser, Arnulf H Koeppen, David R Lynch, Marek Napierala. PLoS One 2017
Ashlee Long, Jill S Napierala, Urszula Polak, Lauren Hauser, Arnulf H Koeppen, David R Lynch, Marek Napierala. PLoS One 2017
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Delivery of the 135 kb human frataxin genomic DNA locus gives rise to different frataxin isoforms.
S Pérez-Luz, A Gimenez-Cassina, I Fernández-Frías, R Wade-Martins, J Díaz-Nido. Genomics 2015
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Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes.
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Therapeutic Prospects for Friedreich's Ataxia.
Siyuan Zhang, Marek Napierala, Jill S Napierala. Trends Pharmacol Sci 2019
Siyuan Zhang, Marek Napierala, Jill S Napierala. Trends Pharmacol Sci 2019
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Clinical features of Friedreich's ataxia: classical and atypical phenotypes.
Michael H Parkinson, Sylvia Boesch, Wolfgang Nachbauer, Caterina Mariotti, Paola Giunti. J Neurochem 2013
Michael H Parkinson, Sylvia Boesch, Wolfgang Nachbauer, Caterina Mariotti, Paola Giunti. J Neurochem 2013
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Maturation of wild-type and mutated frataxin by the mitochondrial processing peptidase.
H Koutnikova, V Campuzano, M Koenig. Hum Mol Genet 1998
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Iron-dependent self-assembly of recombinant yeast frataxin: implications for Friedreich ataxia.
J Adamec, F Rusnak, W G Owen, S Naylor, L M Benson, A M Gacy, G Isaya. Am J Hum Genet 2000
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Frataxin-mediated iron delivery to ferrochelatase in the final step of heme biosynthesis.
Taejin Yoon, J A Cowan. J Biol Chem 2004
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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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Friedreich's ataxia induced pluripotent stem cell-derived cardiomyocytes display electrophysiological abnormalities and calcium handling deficiency.
Duncan E Crombie, Claire L Curl, Antonia Ja Raaijmakers, Priyadharshini Sivakumaran, Tejal Kulkarni, Raymond Cb Wong, Itsunari Minami, Marguerite V Evans-Galea, Shiang Y Lim, Lea Delbridge,[...]. Aging (Albany NY) 2017
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Real time PCR quantification of frataxin mRNA in the peripheral blood leucocytes of Friedreich ataxia patients and carriers.
L Pianese, M Turano, M S Lo Casale, I De Biase, M Giacchetti, A Monticelli, C Criscuolo, A Filla, S Cocozza. J Neurol Neurosurg Psychiatry 2004
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Iron-sulfur cluster biosynthesis. Characterization of frataxin as an iron donor for assembly of [2Fe-2S] clusters in ISU-type proteins.
Taejin Yoon, J A Cowan. J Am Chem Soc 2003
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Silencing of frataxin gene expression triggers p53-dependent apoptosis in human neuron-like cells.
Gloria M Palomo, Toñi Cerrato, Ricardo Gargini, Javier Diaz-Nido. Hum Mol Genet 2011
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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
Arantxa Bolinches-Amorós, Belén Mollá, David Pla-Martín, Francesc Palau, Pilar González-Cabo. Front Cell Neurosci 2014
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The pathogenesis of cardiomyopathy in Friedreich ataxia.
Arnulf H Koeppen, R Liane Ramirez, Alyssa B Becker, Sarah T Bjork, Sonia Levi, Paolo Santambrogio, Patrick J Parsons, Pamela C Kruger, Karl X Yang, Paul J Feustel,[...]. PLoS One 2015
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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
Anne-Laure Bulteau, Heather A O'Neill, Mary Claire Kennedy, Masao Ikeda-Saito, Grazia Isaya, Luke I Szweda. Science 2004
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A pool of extramitochondrial frataxin that promotes cell survival.
Ivano Condò, Natascia Ventura, Florence Malisan, Barbara Tomassini, Roberto Testi. J Biol Chem 2006
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Animal and cellular models of Friedreich ataxia.
Morgane Perdomini, Aurore Hick, Hélène Puccio, Mark A Pook. J Neurochem 2013
Morgane Perdomini, Aurore Hick, Hélène Puccio, Mark A Pook. J Neurochem 2013
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DNA triplet repeats mediate heterochromatin-protein-1-sensitive variegated gene silencing.
Alexander Saveliev, Christopher Everett, Tammy Sharpe, Zoë Webster, Richard Festenstein. Nature 2003
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Alleviating GAA Repeat Induced Transcriptional Silencing of the Friedreich's Ataxia Gene During Somatic Cell Reprogramming.
Urszula Polak, Yanjie Li, Jill Sergesketter Butler, Marek Napierala. Stem Cells Dev 2016
Urszula Polak, Yanjie Li, Jill Sergesketter Butler, Marek Napierala. Stem Cells Dev 2016
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Frataxin knockin mouse.
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Friedreich ataxia-induced pluripotent stem cell-derived neurons show a cellular phenotype that is corrected by a benzamide HDAC inhibitor.
Franca Codazzi, Amelié Hu, Myriam Rai, Simona Donatello, Floramarida Salerno Scarzella, Elisabeth Mangiameli, Ilaria Pelizzoni, Fabio Grohovaz, Massimo Pandolfo. Hum Mol Genet 2016
Franca Codazzi, Amelié Hu, Myriam Rai, Simona Donatello, Floramarida Salerno Scarzella, Elisabeth Mangiameli, Ilaria Pelizzoni, Fabio Grohovaz, Massimo Pandolfo. Hum Mol Genet 2016
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Comprehensive analysis of gene expression patterns in Friedreich's ataxia fibroblasts by RNA sequencing reveals altered levels of protein synthesis factors and solute carriers.
Jill Sergesketter Napierala, Yanjie Li, Yue Lu, Kevin Lin, Lauren A Hauser, David R Lynch, Marek Napierala. Dis Model Mech 2017
Jill Sergesketter Napierala, Yanjie Li, Yue Lu, Kevin Lin, Lauren A Hauser, David R Lynch, Marek Napierala. Dis Model Mech 2017
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Friedreich's ataxia: pathology, pathogenesis, and molecular genetics.
Arnulf H Koeppen. J Neurol Sci 2011
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A TAT-frataxin fusion protein increases lifespan and cardiac function in a conditional Friedreich's ataxia mouse model.
Piyush M Vyas, Wendy J Tomamichel, P Melanie Pride, Clifford M Babbey, Qiujuan Wang, Jennifer Mercier, Elizabeth M Martin, R Mark Payne. Hum Mol Genet 2012
Piyush M Vyas, Wendy J Tomamichel, P Melanie Pride, Clifford M Babbey, Qiujuan Wang, Jennifer Mercier, Elizabeth M Martin, R Mark Payne. Hum Mol Genet 2012
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Dyclonine rescues frataxin deficiency in animal models and buccal cells of patients with Friedreich's ataxia.
Sunil Sahdeo, Brian D Scott, Marissa Z McMackin, Mittal Jasoliya, Brandon Brown, Heike Wulff, Susan L Perlman, Mark A Pook, Gino A Cortopassi. Hum Mol Genet 2014
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21
Compound heterozygous FXN mutations and clinical outcome in friedreich ataxia.
Charles A Galea, Aamira Huq, Paul J Lockhart, Geneieve Tai, Louise A Corben, Eppie M Yiu, Lyle C Gurrin, David R Lynch, Sarah Gelbard, Alexandra Durr,[...]. Ann Neurol 2016
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The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia.
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Friedreich's ataxia: clinical features, pathogenesis and management.
A Cook, P Giunti. Br Med Bull 2017
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Novel frataxin isoforms may contribute to the pathological mechanism of Friedreich ataxia.
Haiyan Xia, Yun Cao, Xiaoman Dai, Zvonimir Marelja, Di Zhou, Ran Mo, Sahar Al-Mahdawi, Mark A Pook, Silke Leimkühler, Tracey A Rouault,[...]. PLoS One 2012
Haiyan Xia, Yun Cao, Xiaoman Dai, Zvonimir Marelja, Di Zhou, Ran Mo, Sahar Al-Mahdawi, Mark A Pook, Silke Leimkühler, Tracey A Rouault,[...]. PLoS One 2012
21
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.