Sahar Al-Mahdawi, Ricardo Mouro Pinto, Ozama Ismail, Dhaval Varshney, Stefania Lymperi, Chiranjeevi Sandi, Daniah Trabzuni, Mark Pook. Hum Mol Genet 2008
Times Cited: 182
Times Cited: 182
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
67
Repeat-induced epigenetic changes in intron 1 of the frataxin gene and its consequences in Friedreich ataxia.
Eriko Greene, Lata Mahishi, Ali Entezam, Daman Kumari, Karen Usdin. Nucleic Acids Res 2007
Eriko Greene, Lata Mahishi, Ali Entezam, Daman Kumari, Karen Usdin. Nucleic Acids Res 2007
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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
50
DNA triplet repeats mediate heterochromatin-protein-1-sensitive variegated gene silencing.
Alexander Saveliev, Christopher Everett, Tammy Sharpe, Zoë Webster, Richard Festenstein. Nature 2003
Alexander Saveliev, Christopher Everett, Tammy Sharpe, Zoë Webster, Richard Festenstein. Nature 2003
34
FXN methylation predicts expression and clinical outcome in Friedreich ataxia.
Marguerite V Evans-Galea, Nissa Carrodus, Simone M Rowley, Louise A Corben, Geneieve Tai, Richard Saffery, John C Galati, Nicholas C Wong, Jeffrey M Craig, David R Lynch,[...]. Ann Neurol 2012
Marguerite V Evans-Galea, Nissa Carrodus, Simone M Rowley, Louise A Corben, Geneieve Tai, Richard Saffery, John C Galati, Nicholas C Wong, Jeffrey M Craig, David R Lynch,[...]. Ann Neurol 2012
36
DNA methylation in intron 1 of the frataxin gene is related to GAA repeat length and age of onset in Friedreich ataxia patients.
I Castaldo, M Pinelli, A Monticelli, F Acquaviva, M Giacchetti, A Filla, S Sacchetti, S Keller, V E Avvedimento, L Chiariotti,[...]. J Med Genet 2008
I Castaldo, M Pinelli, A Monticelli, F Acquaviva, M Giacchetti, A Filla, S Sacchetti, S Keller, V E Avvedimento, L Chiariotti,[...]. J Med Genet 2008
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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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Epigenetic silencing in Friedreich ataxia is associated with depletion of CTCF (CCCTC-binding factor) and antisense transcription.
Irene De Biase, Yogesh K Chutake, Paul M Rindler, Sanjay I Bidichandani. PLoS One 2009
Irene De Biase, Yogesh K Chutake, Paul M Rindler, Sanjay I Bidichandani. PLoS One 2009
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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
S I Bidichandani, T Ashizawa, P I Patel. Am J Hum Genet 1998
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HDAC inhibitors correct frataxin deficiency in a Friedreich ataxia mouse model.
Myriam Rai, Elisabetta Soragni, Kai Jenssen, Ryan Burnett, David Herman, Giovanni Coppola, Daniel H Geschwind, Joel M Gottesfeld, Massimo Pandolfo. PLoS One 2008
Myriam Rai, Elisabetta Soragni, Kai Jenssen, Ryan Burnett, David Herman, Giovanni Coppola, Daniel H Geschwind, Joel M Gottesfeld, Massimo Pandolfo. PLoS One 2008
24
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
24
Heterochromatinization induced by GAA-repeat hyperexpansion in Friedreich's ataxia can be reduced upon HDAC inhibition by vitamin B3.
Ping K Chan, Raul Torres, Cihangir Yandim, Pui P Law, Sanjay Khadayate, Marta Mauri, Crina Grosan, Nadine Chapman-Rothe, Paola Giunti, Mark Pook,[...]. Hum Mol Genet 2013
Ping K Chan, Raul Torres, Cihangir Yandim, Pui P Law, Sanjay Khadayate, Marta Mauri, Crina Grosan, Nadine Chapman-Rothe, Paola Giunti, Mark Pook,[...]. Hum Mol Genet 2013
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Epigenetic therapy for Friedreich ataxia.
Elisabetta Soragni, Wenyan Miao, Marco Iudicello, David Jacoby, Stefania De Mercanti, Marinella Clerico, Filomena Longo, Antonio Piga, Sherman Ku, Erica Campau,[...]. Ann Neurol 2014
Elisabetta Soragni, Wenyan Miao, Marco Iudicello, David Jacoby, Stefania De Mercanti, Marinella Clerico, Filomena Longo, Antonio Piga, Sherman Ku, Erica Campau,[...]. Ann Neurol 2014
25
Prolonged treatment with pimelic o-aminobenzamide HDAC inhibitors ameliorates the disease phenotype of a Friedreich ataxia mouse model.
Chiranjeevi Sandi, Ricardo Mouro Pinto, Sahar Al-Mahdawi, Vahid Ezzatizadeh, Glenn Barnes, Steve Jones, James R Rusche, Joel M Gottesfeld, Mark A Pook. Neurobiol Dis 2011
Chiranjeevi Sandi, Ricardo Mouro Pinto, Sahar Al-Mahdawi, Vahid Ezzatizadeh, Glenn Barnes, Steve Jones, James R Rusche, Joel M Gottesfeld, Mark A Pook. Neurobiol Dis 2011
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Long intronic GAA repeats causing Friedreich ataxia impede transcription elongation.
Tanel Punga, Marc Bühler. EMBO Mol Med 2010
Tanel Punga, Marc Bühler. EMBO Mol Med 2010
23
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
20
Hyperexpansion of GAA repeats affects post-initiation steps of FXN transcription in Friedreich's ataxia.
Eunah Kim, Marek Napierala, Sharon Y R Dent. Nucleic Acids Res 2011
Eunah Kim, Marek Napierala, Sharon Y R Dent. Nucleic Acids Res 2011
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Inhibitory effects of expanded GAA.TTC triplet repeats from intron I of the Friedreich ataxia gene on transcription and replication in vivo.
K Ohshima, L Montermini, R D Wells, M Pandolfo. J Biol Chem 1998
K Ohshima, L Montermini, R D Wells, M Pandolfo. J Biol Chem 1998
18
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
18
Friedreich's ataxia: pathology, pathogenesis, and molecular genetics.
Arnulf H Koeppen. J Neurol Sci 2011
Arnulf H Koeppen. J Neurol Sci 2011
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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.
A E Harding. Brain 1981
A E Harding. Brain 1981
17
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
A Filla, G De Michele, F Cavalcanti, L Pianese, A Monticelli, G Campanella, S Cocozza. Am J Hum Genet 1996
17
Long intronic GAA*TTC repeats induce epigenetic changes and reporter gene silencing in a molecular model of Friedreich ataxia.
E Soragni, D Herman, S Y R Dent, J M Gottesfeld, R D Wells, M Napierala. Nucleic Acids Res 2008
E Soragni, D Herman, S Y R Dent, J M Gottesfeld, R D Wells, M Napierala. Nucleic Acids Res 2008
29
A persistent RNA.DNA hybrid formed by transcription of the Friedreich ataxia triplet repeat in live bacteria, and by T7 RNAP in vitro.
Ed Grabczyk, Miriam Mancuso, Mimi C Sammarco. Nucleic Acids Res 2007
Ed Grabczyk, Miriam Mancuso, Mimi C Sammarco. Nucleic Acids Res 2007
17
Friedreich's ataxia induced pluripotent stem cells model intergenerational GAA⋅TTC triplet repeat instability.
Sherman Ku, Elisabetta Soragni, Erica Campau, Elizabeth A Thomas, Gulsah Altun, Louise C Laurent, Jeanne F Loring, Marek Napierala, Joel M Gottesfeld. Cell Stem Cell 2010
Sherman Ku, Elisabetta Soragni, Erica Campau, Elizabeth A Thomas, Gulsah Altun, Louise C Laurent, Jeanne F Loring, Marek Napierala, Joel M Gottesfeld. Cell Stem Cell 2010
17
Repeat expansion affects both transcription initiation and elongation in friedreich ataxia cells.
Daman Kumari, Rea Erika Biacsi, Karen Usdin. J Biol Chem 2011
Daman Kumari, Rea Erika Biacsi, Karen Usdin. J Biol Chem 2011
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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
17
Epigenetic and neurological effects and safety of high-dose nicotinamide in patients with Friedreich's ataxia: an exploratory, open-label, dose-escalation study.
Vincenzo Libri, Cihangir Yandim, Stavros Athanasopoulos, Naomi Loyse, Theona Natisvili, Pui Pik Law, Ping Kei Chan, Tariq Mohammad, Marta Mauri, Kin Tung Tam,[...]. Lancet 2014
Vincenzo Libri, Cihangir Yandim, Stavros Athanasopoulos, Naomi Loyse, Theona Natisvili, Pui Pik Law, Ping Kei Chan, Tariq Mohammad, Marta Mauri, Kin Tung Tam,[...]. Lancet 2014
20
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
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
16
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
15
Two new pimelic diphenylamide HDAC inhibitors induce sustained frataxin upregulation in cells from Friedreich's ataxia patients and in a mouse model.
Myriam Rai, Elisabetta Soragni, C James Chou, Glenn Barnes, Steve Jones, James R Rusche, Joel M Gottesfeld, Massimo Pandolfo. PLoS One 2010
Myriam Rai, Elisabetta Soragni, C James Chou, Glenn Barnes, Steve Jones, James R Rusche, Joel M Gottesfeld, Massimo Pandolfo. PLoS One 2010
15
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
15
Altered nucleosome positioning at the transcription start site and deficient transcriptional initiation in Friedreich ataxia.
Yogesh K Chutake, Whitney N Costello, Christina Lam, Sanjay I Bidichandani. J Biol Chem 2014
Yogesh K Chutake, Whitney N Costello, Christina Lam, Sanjay I Bidichandani. J Biol Chem 2014
48
Expanded GAA repeats impede transcription elongation through the FXN gene and induce transcriptional silencing that is restricted to the FXN locus.
Yanjie Li, Yue Lu, Urszula Polak, Kevin Lin, Jianjun Shen, Jennifer Farmer, Lauren Seyer, Angela D Bhalla, Natalia Rozwadowska, David R Lynch,[...]. Hum Mol Genet 2015
Yanjie Li, Yue Lu, Urszula Polak, Kevin Lin, Jianjun Shen, Jennifer Farmer, Lauren Seyer, Angela D Bhalla, Natalia Rozwadowska, David R Lynch,[...]. Hum Mol Genet 2015
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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
14
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
14
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
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
25
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
Yanjie Li, Urszula Polak, Angela D Bhalla, Natalia Rozwadowska, Jill Sergesketter Butler, David R Lynch, Sharon Y R Dent, Marek Napierala. Mol Ther 2015
25
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
13
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
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
20
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
13
Chemical probes identify a role for histone deacetylase 3 in Friedreich's ataxia gene silencing.
Chunping Xu, Elisabetta Soragni, C James Chou, David Herman, Heather L Plasterer, James R Rusche, Joel M Gottesfeld. Chem Biol 2009
Chunping Xu, Elisabetta Soragni, C James Chou, David Herman, Heather L Plasterer, James R Rusche, Joel M Gottesfeld. Chem Biol 2009
14
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
12
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
12
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
18
Sticky DNA: self-association properties of long GAA.TTC repeats in R.R.Y triplex structures from Friedreich's ataxia.
N Sakamoto, P D Chastain, P Parniewski, K Ohshima, M Pandolfo, J D Griffith, R D Wells. Mol Cell 1999
N Sakamoto, P D Chastain, P Parniewski, K Ohshima, M Pandolfo, J D Griffith, R D Wells. Mol Cell 1999
12
The GAA*TTC triplet repeat expanded in Friedreich's ataxia impedes transcription elongation by T7 RNA polymerase in a length and supercoil dependent manner.
E Grabczyk, K Usdin. Nucleic Acids Res 2000
E Grabczyk, K Usdin. Nucleic Acids Res 2000
12
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
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.