H Puccio, D Simon, M Cossée, P Criqui-Filipe, F Tiziano, J Melki, C Hindelang, R Matyas, P Rustin, M Koenig. Nat Genet 2001
Times Cited: 526
Times Cited: 526
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
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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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
35
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
29
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
21
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
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
21
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
20
Friedreich's ataxia: pathology, pathogenesis, and molecular genetics.
Arnulf H Koeppen. J Neurol Sci 2011
Arnulf H Koeppen. J Neurol Sci 2011
20
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
19
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
19
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
19
Mammalian frataxin controls sulfur production and iron entry during de novo Fe4S4 cluster assembly.
Florent Colin, Alain Martelli, Martin Clémancey, Jean-Marc Latour, Serge Gambarelli, Laura Zeppieri, Catherine Birck, Adeline Page, Hélène Puccio, Sandrine Ollagnier de Choudens. J Am Chem Soc 2013
Florent Colin, Alain Martelli, Martin Clémancey, Jean-Marc Latour, Serge Gambarelli, Laura Zeppieri, Catherine Birck, Adeline Page, Hélène Puccio, Sandrine Ollagnier de Choudens. J Am Chem Soc 2013
18
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
18
Human frataxin is an allosteric switch that activates the Fe-S cluster biosynthetic complex.
Chi-Lin Tsai, David P Barondeau. Biochemistry 2010
Chi-Lin Tsai, David P Barondeau. Biochemistry 2010
18
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
36
Identification of nonferritin mitochondrial iron deposits in a mouse model of Friedreich ataxia.
Megan Whitnall, Yohan Suryo Rahmanto, Michael L-H Huang, Federica Saletta, Hiu Chuen Lok, Lucía Gutiérrez, Francisco J Lázaro, Adam J Fleming, Tim G St Pierre, Marc R Mikhael,[...]. Proc Natl Acad Sci U S A 2012
Megan Whitnall, Yohan Suryo Rahmanto, Michael L-H Huang, Federica Saletta, Hiu Chuen Lok, Lucía Gutiérrez, Francisco J Lázaro, Adam J Fleming, Tim G St Pierre, Marc R Mikhael,[...]. Proc Natl Acad Sci U S A 2012
25
Human frataxin activates Fe-S cluster biosynthesis by facilitating sulfur transfer chemistry.
Jennifer Bridwell-Rabb, Nicholas G Fox, Chi-Lin Tsai, Andrew M Winn, David P Barondeau. Biochemistry 2014
Jennifer Bridwell-Rabb, Nicholas G Fox, Chi-Lin Tsai, Andrew M Winn, David P Barondeau. Biochemistry 2014
17
Oxidative stress in patients with Friedreich ataxia.
J B Schulz, T Dehmer, L Schöls, H Mende, C Hardt, M Vorgerd, K Bürk, W Matson, J Dichgans, M F Beal,[...]. Neurology 2000
J B Schulz, T Dehmer, L Schöls, H Mende, C Hardt, M Vorgerd, K Bürk, W Matson, J Dichgans, M F Beal,[...]. Neurology 2000
17
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
17
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
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
23
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
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
16
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
16
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
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
23
The MCK mouse heart model of Friedreich's ataxia: Alterations in iron-regulated proteins and cardiac hypertrophy are limited by iron chelation.
Megan Whitnall, Yohan Suryo Rahmanto, Robert Sutak, Xiangcong Xu, Erika M Becker, Marc R Mikhael, Prem Ponka, Des R Richardson. Proc Natl Acad Sci U S A 2008
Megan Whitnall, Yohan Suryo Rahmanto, Robert Sutak, Xiangcong Xu, Erika M Becker, Marc R Mikhael, Prem Ponka, Des R Richardson. Proc Natl Acad Sci U S A 2008
16
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
A Wong, J Yang, P Cavadini, C Gellera, B Lonnerdal, F Taroni, G Cortopassi. Hum Mol Genet 1999
15
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
J L Bradley, J C Blake, S Chamberlain, P K Thomas, J M Cooper, A H Schapira. Hum Mol Genet 2000
15
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
15
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
M Cossée, H Puccio, A Gansmuller, H Koutnikova, A Dierich, M LeMeur, K Fischbeck, P Dollé, M Koenig. Hum Mol Genet 2000
15
Friedreich's ataxia: a clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features.
A E Harding. Brain 1981
A E Harding. Brain 1981
15
14
Impaired nuclear Nrf2 translocation undermines the oxidative stress response in Friedreich ataxia.
Vincent Paupe, Emmanuel P Dassa, Sergio Goncalves, Françoise Auchère, Maria Lönn, Arne Holmgren, Pierre Rustin. PLoS One 2009
Vincent Paupe, Emmanuel P Dassa, Sergio Goncalves, Françoise Auchère, Maria Lönn, Arne Holmgren, Pierre Rustin. PLoS One 2009
14
The role of oxidative stress in Friedreich's ataxia.
Federica Lupoli, Tommaso Vannocci, Giovanni Longo, Neri Niccolai, Annalisa Pastore. FEBS Lett 2018
Federica Lupoli, Tommaso Vannocci, Giovanni Longo, Neri Niccolai, Annalisa Pastore. FEBS Lett 2018
26
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
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
38
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
23
Mitochondrial iron trafficking and the integration of iron metabolism between the mitochondrion and cytosol.
Des R Richardson, Darius J R Lane, Erika M Becker, Michael L-H Huang, Megan Whitnall, Yohan Suryo Rahmanto, Alex D Sheftel, Prem Ponka. Proc Natl Acad Sci U S A 2010
Des R Richardson, Darius J R Lane, Erika M Becker, Michael L-H Huang, Megan Whitnall, Yohan Suryo Rahmanto, Alex D Sheftel, Prem Ponka. Proc Natl Acad Sci U S A 2010
13
Iron-sulfur cluster biogenesis in mammalian cells: New insights into the molecular mechanisms of cluster delivery.
Nunziata Maio, Tracey A Rouault. Biochim Biophys Acta 2015
Nunziata Maio, Tracey A Rouault. Biochim Biophys Acta 2015
13
Ferroptosis: an iron-dependent form of nonapoptotic cell death.
Scott J Dixon, Kathryn M Lemberg, Michael R Lamprecht, Rachid Skouta, Eleina M Zaitsev, Caroline E Gleason, Darpan N Patel, Andras J Bauer, Alexandra M Cantley, Wan Seok Yang,[...]. Cell 2012
Scott J Dixon, Kathryn M Lemberg, Michael R Lamprecht, Rachid Skouta, Eleina M Zaitsev, Caroline E Gleason, Darpan N Patel, Andras J Bauer, Alexandra M Cantley, Wan Seok Yang,[...]. Cell 2012
13
Mammalian frataxin directly enhances sulfur transfer of NFS1 persulfide to both ISCU and free thiols.
Aubérie Parent, Xavier Elduque, David Cornu, Laura Belot, Jean-Pierre Le Caer, Anna Grandas, Michel B Toledano, Benoit D'Autréaux. Nat Commun 2015
Aubérie Parent, Xavier Elduque, David Cornu, Laura Belot, Jean-Pierre Le Caer, Anna Grandas, Michel B Toledano, Benoit D'Autréaux. Nat Commun 2015
14
Iron and iron-responsive proteins in the cardiomyopathy of Friedreich's ataxia.
Susan Michael, Simone V Petrocine, Jiang Qian, Jacques B Lamarche, Mitchell D Knutson, Michael D Garrick, Arnulf H Koeppen. Cerebellum 2006
Susan Michael, Simone V Petrocine, Jiang Qian, Jacques B Lamarche, Mitchell D Knutson, Michael D Garrick, Arnulf H Koeppen. Cerebellum 2006
14
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
13
Deficit of in vivo mitochondrial ATP production in patients with Friedreich ataxia.
R Lodi, J M Cooper, J L Bradley, D Manners, P Styles, D J Taylor, A H Schapira. Proc Natl Acad Sci U S A 1999
R Lodi, J M Cooper, J L Bradley, D Manners, P Styles, D J Taylor, A H Schapira. Proc Natl Acad Sci U S A 1999
13
Loss of Frataxin induces iron toxicity, sphingolipid synthesis, and Pdk1/Mef2 activation, leading to neurodegeneration.
Kuchuan Chen, Guang Lin, Nele A Haelterman, Tammy Szu-Yu Ho, Tongchao Li, Zhihong Li, Lita Duraine, Brett H Graham, Manish Jaiswal, Shinya Yamamoto,[...]. Elife 2016
Kuchuan Chen, Guang Lin, Nele A Haelterman, Tammy Szu-Yu Ho, Tongchao Li, Zhihong Li, Lita Duraine, Brett H Graham, Manish Jaiswal, Shinya Yamamoto,[...]. Elife 2016
30
The cardiomyopathy of Friedreich's ataxia morphological observations in 3 cases.
J B Lamarche, M Côté, B Lemieux. Can J Neurol Sci 1980
J B Lamarche, M Côté, B Lemieux. Can J Neurol Sci 1980
13
Frataxin activates mitochondrial energy conversion and oxidative phosphorylation.
M Ristow, M F Pfister, A J Yee, M Schubert, L Michael, C Y Zhang, K Ueki, M D Michael, B B Lowell, C R Kahn. Proc Natl Acad Sci U S A 2000
M Ristow, M F Pfister, A J Yee, M Schubert, L Michael, C Y Zhang, K Ueki, M D Michael, B B Lowell, C R Kahn. Proc Natl Acad Sci U S A 2000
13
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
26
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
12
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
12
Deferiprone in Friedreich ataxia: a 6-month randomized controlled trial.
Massimo Pandolfo, Javier Arpa, Martin B Delatycki, Kim Hanh Le Quan Sang, Caterina Mariotti, Arnold Munnich, Irene Sanz-Gallego, Geneieve Tai, Mark A Tarnopolsky, Franco Taroni,[...]. Ann Neurol 2014
Massimo Pandolfo, Javier Arpa, Martin B Delatycki, Kim Hanh Le Quan Sang, Caterina Mariotti, Arnold Munnich, Irene Sanz-Gallego, Geneieve Tai, Mark A Tarnopolsky, Franco Taroni,[...]. Ann Neurol 2014
16
Loss of Frataxin activates the iron/sphingolipid/PDK1/Mef2 pathway in mammals.
Kuchuan Chen, Tammy Szu-Yu Ho, Guang Lin, Kai Li Tan, Matthew N Rasband, Hugo J Bellen. Elife 2016
Kuchuan Chen, Tammy Szu-Yu Ho, Guang Lin, Kai Li Tan, Matthew N Rasband, Hugo J Bellen. Elife 2016
32
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
12
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.