M Cossée, H Puccio, A Gansmuller, H Koutnikova, A Dierich, M LeMeur, K Fischbeck, P Dollé, M Koenig. Hum Mol Genet 2000
Times Cited: 262
Times Cited: 262
Times Cited
Times Co-cited
Similarity
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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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
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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Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia.
A Rötig, P de Lonlay, D Chretien, F Foury, M Koenig, D Sidi, A Munnich, P Rustin. Nat Genet 1997
A Rötig, P de Lonlay, D Chretien, F Foury, M Koenig, D Sidi, A Munnich, P Rustin. Nat Genet 1997
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Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes.
V Campuzano, L Montermini, Y Lutz, L Cova, C Hindelang, S Jiralerspong, Y Trottier, S J Kish, B Faucheux, P Trouillas,[...]. Hum Mol Genet 1997
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35
GAA repeat expansion mutation mouse models of Friedreich ataxia exhibit oxidative stress leading to progressive neuronal and cardiac pathology.
Sahar Al-Mahdawi, Ricardo Mouro Pinto, Dhaval Varshney, Lorraine Lawrence, Margaret B Lowrie, Sian Hughes, Zoe Webster, Julian Blake, J Mark Cooper, Rosalind King,[...]. Genomics 2006
Sahar Al-Mahdawi, Ricardo Mouro Pinto, Dhaval Varshney, Lorraine Lawrence, Margaret B Lowrie, Sian Hughes, Zoe Webster, Julian Blake, J Mark Cooper, Rosalind King,[...]. Genomics 2006
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Regulation of mitochondrial iron accumulation by Yfh1p, a putative homolog of frataxin.
M Babcock, D de Silva, R Oaks, S Davis-Kaplan, S Jiralerspong, L Montermini, M Pandolfo, J Kaplan. Science 1997
M Babcock, D de Silva, R Oaks, S Davis-Kaplan, S Jiralerspong, L Montermini, M Pandolfo, J Kaplan. Science 1997
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Clinical and genetic abnormalities in patients with Friedreich's ataxia.
A Dürr, M Cossee, Y Agid, V Campuzano, C Mignard, C Penet, J L Mandel, A Brice, M Koenig. N Engl J Med 1996
A Dürr, M Cossee, Y Agid, V Campuzano, C Mignard, C Penet, J L Mandel, A Brice, M Koenig. N Engl J Med 1996
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Frataxin knockin mouse.
Carlos J Miranda, Manuela M Santos, Keiichi Ohshima, Julie Smith, Liangtao Li, Michaeline Bunting, Mireille Cossée, Michael Koenig, Jorge Sequeiros, Jerry Kaplan,[...]. FEBS Lett 2002
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Friedreich ataxia mouse models with progressive cerebellar and sensory ataxia reveal autophagic neurodegeneration in dorsal root ganglia.
Delphine Simon, Hervé Seznec, Anne Gansmuller, Nadège Carelle, Philipp Weber, Daniel Metzger, Pierre Rustin, Michel Koenig, Hélène Puccio. J Neurosci 2004
Delphine Simon, Hervé Seznec, Anne Gansmuller, Nadège Carelle, Philipp Weber, Daniel Metzger, Pierre Rustin, Michel Koenig, Hélène Puccio. J Neurosci 2004
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The Friedreich's ataxia mutation confers cellular sensitivity to oxidant stress which is rescued by chelators of iron and calcium and inhibitors of apoptosis.
A Wong, J Yang, P Cavadini, C Gellera, B Lonnerdal, F Taroni, G Cortopassi. Hum Mol Genet 1999
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Friedreich's ataxia: pathology, pathogenesis, and molecular genetics.
Arnulf H Koeppen. J Neurol Sci 2011
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Mammalian frataxin: an essential function for cellular viability through an interaction with a preformed ISCU/NFS1/ISD11 iron-sulfur assembly complex.
Stéphane Schmucker, Alain Martelli, Florent Colin, Adeline Page, Marie Wattenhofer-Donzé, Laurence Reutenauer, Hélène Puccio. PLoS One 2011
Stéphane Schmucker, Alain Martelli, Florent Colin, Adeline Page, Marie Wattenhofer-Donzé, Laurence Reutenauer, Hélène Puccio. PLoS One 2011
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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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RNAi-mediated suppression of the mitochondrial iron chaperone, frataxin, in Drosophila.
Peter R Anderson, Kim Kirby, Arthur J Hilliker, John P Phillips. Hum Mol Genet 2005
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Friedreich's ataxia: a clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features.
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Oxidative stress in patients with Friedreich ataxia.
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Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin.
H Koutnikova, V Campuzano, F Foury, P Dollé, O Cazzalini, M Koenig. Nat Genet 1997
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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
David Herman, Kai Jenssen, Ryan Burnett, Elisabetta Soragni, Susan L Perlman, Joel M Gottesfeld. Nat Chem Biol 2006
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The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia.
A Filla, G De Michele, F Cavalcanti, L Pianese, A Monticelli, G Campanella, S Cocozza. Am J Hum Genet 1996
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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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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
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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Friedreich ataxia: the oxidative stress paradox.
Hervé Seznec, Delphine Simon, Cécile Bouton, Laurence Reutenauer, Ariane Hertzog, Pawel Golik, Vincent Procaccio, Manisha Patel, Jean-Claude Drapier, Michel Koenig,[...]. Hum Mol Genet 2005
Hervé Seznec, Delphine Simon, Cécile Bouton, Laurence Reutenauer, Ariane Hertzog, Pawel Golik, Vincent Procaccio, Manisha Patel, Jean-Claude Drapier, Michel Koenig,[...]. Hum Mol Genet 2005
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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
Taejin Yoon, J A Cowan. J Am Chem Soc 2003
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Causative role of oxidative stress in a Drosophila model of Friedreich ataxia.
José V Llorens, Juan A Navarro, Maria J Martínez-Sebastián, Mary K Baylies, S Schneuwly, José A Botella, Maria D Moltó. FASEB J 2007
José V Llorens, Juan A Navarro, Maria J Martínez-Sebastián, Mary K Baylies, S Schneuwly, José A Botella, Maria D Moltó. FASEB J 2007
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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
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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Friedreich ataxia: neuropathology revised.
Arnulf H Koeppen, Joseph E Mazurkiewicz. J Neuropathol Exp Neurol 2013
Arnulf H Koeppen, Joseph E Mazurkiewicz. J Neuropathol Exp Neurol 2013
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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
Taejin Yoon, J A Cowan. J Biol Chem 2004
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The GAA triplet-repeat expansion in Friedreich ataxia interferes with transcription and may be associated with an unusual DNA structure.
S I Bidichandani, T Ashizawa, P I Patel. Am J Hum Genet 1998
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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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Deletion of the yeast homologue of the human gene associated with Friedreich's ataxia elicits iron accumulation in mitochondria.
F Foury, O Cazzalini. FEBS Lett 1997
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GAA repeat instability in Friedreich ataxia YAC transgenic mice.
Sahar Al-Mahdawi, Ricardo Mouro Pinto, Piers Ruddle, Christopher Carroll, Zoe Webster, Mark Pook. Genomics 2004
Sahar Al-Mahdawi, Ricardo Mouro Pinto, Piers Ruddle, Christopher Carroll, Zoe Webster, Mark Pook. Genomics 2004
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Clinical, biochemical and molecular genetic correlations in Friedreich's ataxia.
J L Bradley, J C Blake, S Chamberlain, P K Thomas, J M Cooper, A H Schapira. Hum Mol Genet 2000
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The cardiomyopathy of Friedreich's ataxia morphological observations in 3 cases.
J B Lamarche, M Côté, B Lemieux. Can J Neurol Sci 1980
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Frataxin is essential for extramitochondrial Fe-S cluster proteins in mammalian tissues.
Alain Martelli, Marie Wattenhofer-Donzé, Stéphane Schmucker, Samuel Bouvet, Laurence Reutenauer, Hélène Puccio. Hum Mol Genet 2007
Alain Martelli, Marie Wattenhofer-Donzé, Stéphane Schmucker, Samuel Bouvet, Laurence Reutenauer, Hélène Puccio. Hum Mol Genet 2007
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Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes.
M Cossée, A Dürr, M Schmitt, N Dahl, P Trouillas, P Allinson, M Kostrzewa, A Nivelon-Chevallier, K H Gustavson, A Kohlschütter,[...]. Ann Neurol 1999
M Cossée, A Dürr, M Schmitt, N Dahl, P Trouillas, P Allinson, M Kostrzewa, A Nivelon-Chevallier, K H Gustavson, A Kohlschütter,[...]. Ann Neurol 1999
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An interaction between frataxin and Isu1/Nfs1 that is crucial for Fe/S cluster synthesis on Isu1.
Jana Gerber, Ulrich Mühlenhoff, Roland Lill. EMBO Rep 2003
Jana Gerber, Ulrich Mühlenhoff, Roland Lill. EMBO Rep 2003
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Mortality in Friedreich ataxia.
Amy Y Tsou, Erin K Paulsen, Sarah J Lagedrost, Susan L Perlman, Katherine D Mathews, George R Wilmot, Bernard Ravina, Arnulf H Koeppen, David R Lynch. J Neurol Sci 2011
Amy Y Tsou, Erin K Paulsen, Sarah J Lagedrost, Susan L Perlman, Katherine D Mathews, George R Wilmot, Bernard Ravina, Arnulf H Koeppen, David R Lynch. J Neurol Sci 2011
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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
17
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
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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Increased levels of plasma malondialdehyde in Friedreich ataxia.
M Emond, G Lepage, M Vanasse, M Pandolfo. Neurology 2000
M Emond, G Lepage, M Vanasse, M Pandolfo. Neurology 2000
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Evolution of the Friedreich's ataxia trinucleotide repeat expansion: founder effect and premutations.
M Cossée, M Schmitt, V Campuzano, L Reutenauer, C Moutou, J L Mandel, M Koenig. Proc Natl Acad Sci U S A 1997
M Cossée, M Schmitt, V Campuzano, L Reutenauer, C Moutou, J L Mandel, M Koenig. Proc Natl Acad Sci U S A 1997
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Bacterial frataxin CyaY is the gatekeeper of iron-sulfur cluster formation catalyzed by IscS.
Salvatore Adinolfi, Clara Iannuzzi, Filippo Prischi, Chiara Pastore, Stefania Iametti, Stephen R Martin, Franco Bonomi, Annalisa Pastore. Nat Struct Mol Biol 2009
Salvatore Adinolfi, Clara Iannuzzi, Filippo Prischi, Chiara Pastore, Stefania Iametti, Stephen R Martin, Franco Bonomi, Annalisa Pastore. Nat Struct Mol Biol 2009
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Combined therapy with idebenone and deferiprone in patients with Friedreich's ataxia.
Daniel Velasco-Sánchez, Asuncion Aracil, Raquel Montero, Ana Mas, Lorenzo Jiménez, Mar O'Callaghan, Maria Tondo, Antoni Capdevila, Josep Blanch, Rafael Artuch,[...]. Cerebellum 2011
Daniel Velasco-Sánchez, Asuncion Aracil, Raquel Montero, Ana Mas, Lorenzo Jiménez, Mar O'Callaghan, Maria Tondo, Antoni Capdevila, Josep Blanch, Rafael Artuch,[...]. Cerebellum 2011
16
Idebenone delays the onset of cardiac functional alteration without correction of Fe-S enzymes deficit in a mouse model for Friedreich ataxia.
Hervé Seznec, Delphine Simon, Laurent Monassier, Paola Criqui-Filipe, Anne Gansmuller, Pierre Rustin, Michel Koenig, Hélène Puccio. Hum Mol Genet 2004
Hervé Seznec, Delphine Simon, Laurent Monassier, Paola Criqui-Filipe, Anne Gansmuller, Pierre Rustin, Michel Koenig, Hélène Puccio. Hum Mol Genet 2004
16
The yeast frataxin homolog Yfh1p plays a specific role in the maturation of cellular Fe/S proteins.
Ulrich Mühlenhoff, Nadine Richhardt, Michael Ristow, Gyula Kispal, Roland Lill. Hum Mol Genet 2002
Ulrich Mühlenhoff, Nadine Richhardt, Michael Ristow, Gyula Kispal, Roland Lill. Hum Mol Genet 2002
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The in vivo mitochondrial two-step maturation of human frataxin.
Stéphane Schmucker, Manuela Argentini, Nadège Carelle-Calmels, Alain Martelli, Hélène Puccio. Hum Mol Genet 2008
Stéphane Schmucker, Manuela Argentini, Nadège Carelle-Calmels, Alain Martelli, Hélène Puccio. Hum Mol Genet 2008
15
Iron-dependent regulation of frataxin expression: implications for treatment of Friedreich ataxia.
Kuanyu Li, Edward K Besse, Dung Ha, Gennadiy Kovtunovych, Tracey A Rouault. Hum Mol Genet 2008
Kuanyu Li, Edward K Besse, Dung Ha, Gennadiy Kovtunovych, Tracey A Rouault. Hum Mol Genet 2008
15
Friedreich ataxia: molecular mechanisms, redox considerations, and therapeutic opportunities.
Renata Santos, Sophie Lefevre, Dominika Sliwa, Alexandra Seguin, Jean-Michel Camadro, Emmanuel Lesuisse. Antioxid Redox Signal 2010
Renata Santos, Sophie Lefevre, Dominika Sliwa, Alexandra Seguin, Jean-Michel Camadro, Emmanuel Lesuisse. Antioxid Redox Signal 2010
15
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.