| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Eric C Deutsch, Lauren A Seyer, Susan L Perlman, Jeanette Yu, David R Lync. Clinical monitoring in a patient with Friedreich ataxia and osteogenic sarcoma. Journal of child neurology. vol 27. issue 9. 2013-01-23. PMID:22752483. |
friedreich ataxia is an autosomal recessive neurodegenerative disorder caused by mutations in the fxn gene that result in abnormally low levels of the mitochondrial protein frataxin. |
2013-01-23 |
2023-08-12 |
Not clear |
| R Mark Payne, Gregory R Wagne. Cardiomyopathy in Friedreich ataxia: clinical findings and research. Journal of child neurology. vol 27. issue 9. 2013-01-23. PMID:22764179. |
friedreich ataxia is the most common human ataxia and results from inadequate production of the frataxin protein, most often the result of a triplet expansion in the nuclear fxn gene. |
2013-01-23 |
2023-08-12 |
human |
| Elisabetta Soragni, Chunping Xu, Heather L Plasterer, Vincent Jacques, James R Rusche, Joel M Gottesfel. Rationale for the development of 2-aminobenzamide histone deacetylase inhibitors as therapeutics for Friedreich ataxia. Journal of child neurology. vol 27. issue 9. 2013-01-23. PMID:22764181. |
the authors' laboratories have identified a novel class of histone deacetylase inhibitors (2-aminobenzamides) that reverses heterochromatin-mediated silencing of the frataxin (fxn) gene in friedreich ataxia. |
2013-01-23 |
2023-08-12 |
mouse |
| Elisabetta Soragni, Chunping Xu, Heather L Plasterer, Vincent Jacques, James R Rusche, Joel M Gottesfel. Rationale for the development of 2-aminobenzamide histone deacetylase inhibitors as therapeutics for Friedreich ataxia. Journal of child neurology. vol 27. issue 9. 2013-01-23. PMID:22764181. |
studies with model compounds show that these histone deacetylase inhibitors increase fxn messenger rna levels in the brain in mouse models for friedreich ataxia and relieve neurological symptoms observed in mouse models and support the notion that this class of molecules may serve as therapeutics for the human disease. |
2013-01-23 |
2023-08-12 |
mouse |
| Vahid Ezzatizadeh, Ricardo Mouro Pinto, Chiranjeevi Sandi, Madhavi Sandi, Sahar Al-Mahdawi, Hein Te Riele, Mark A Poo. The mismatch repair system protects against intergenerational GAA repeat instability in a Friedreich ataxia mouse model. Neurobiology of disease. vol 46. issue 1. 2012-11-20. PMID:22289650. |
friedreich ataxia (frda) is an autosomal recessive neurodegenerative disorder caused by a dynamic gaa repeat expansion mutation within intron 1 of the fxn gene. |
2012-11-20 |
2023-08-12 |
mouse |
| Mathieu Anheim, Louise-Laure Mariani, Patrick Calvas, Emmanuel Cheuret, Fabien Zagnoli, Sylvie Odent, Claire Seguela, Cecilia Marelli, Marlène Fritsch, Jean-Pierre Delaunoy, Alexis Brice, Alexandra Dürr, Michel Koeni. Exonic deletions of FXN and early-onset Friedreich ataxia. Archives of neurology. vol 69. issue 7. 2012-11-19. PMID:22409940. |
exonic deletions of fxn and early-onset friedreich ataxia. |
2012-11-19 |
2023-08-12 |
Not clear |
| Jintang Du, Erica Campau, Elisabetta Soragni, Sherman Ku, James W Puckett, Peter B Dervan, Joel M Gottesfel. Role of mismatch repair enzymes in GAA·TTC triplet-repeat expansion in Friedreich ataxia induced pluripotent stem cells. The Journal of biological chemistry. vol 287. issue 35. 2012-11-19. PMID:22798143. |
the genetic mutation in friedreich ataxia (frda) is a hyperexpansion of the triplet-repeat sequence gaa·ttc within the first intron of the fxn gene. |
2012-11-19 |
2023-08-12 |
human |
| Lata H Mahishi, Ronald P Hart, David R Lynch, Rajiv R Rata. miR-886-3p levels are elevated in Friedreich ataxia. The Journal of neuroscience : the official journal of the Society for Neuroscience. vol 32. issue 27. 2012-09-18. PMID:22764244. |
friedreich ataxia (frda) is the most common inherited ataxia caused primarily by an intronic gaa.ttc triplet repeat expansion in the frataxin (fxn) gene. |
2012-09-18 |
2023-08-12 |
Not clear |
| 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, Sean R Regner, Alicia F D Brocht, Susan L Perlman, Khalaf O Bushara, Christopher M Gomez, George R Wilmot, Lingli Li, Elizabeth Varley, Martin B Delatycki, Joseph P Sarser. FXN methylation predicts expression and clinical outcome in Friedreich ataxia. Annals of neurology. vol 71. issue 4. 2012-06-06. PMID:22522441. |
fxn methylation predicts expression and clinical outcome in friedreich ataxia. |
2012-06-06 |
2023-08-12 |
Not clear |
| 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, Sean R Regner, Alicia F D Brocht, Susan L Perlman, Khalaf O Bushara, Christopher M Gomez, George R Wilmot, Lingli Li, Elizabeth Varley, Martin B Delatycki, Joseph P Sarser. FXN methylation predicts expression and clinical outcome in Friedreich ataxia. Annals of neurology. vol 71. issue 4. 2012-06-06. PMID:22522441. |
friedreich ataxia (fa) is the most common ataxia and results from an expanded gaa repeat in the first intron of fxn. |
2012-06-06 |
2023-08-12 |
Not clear |
| Marguerite V Evans-Galea, Louise A Corben, Justin Hasell, Charles A Galea, Michael C Fahey, Desirée du Sart, Martin B Delatyck. A novel deletion-insertion mutation identified in exon 3 of FXN in two siblings with a severe Friedreich ataxia phenotype. Neurogenetics. vol 12. issue 4. 2012-03-30. PMID:21830088. |
a novel deletion-insertion mutation identified in exon 3 of fxn in two siblings with a severe friedreich ataxia phenotype. |
2012-03-30 |
2023-08-12 |
human |
| Marguerite V Evans-Galea, Louise A Corben, Justin Hasell, Charles A Galea, Michael C Fahey, Desirée du Sart, Martin B Delatyck. A novel deletion-insertion mutation identified in exon 3 of FXN in two siblings with a severe Friedreich ataxia phenotype. Neurogenetics. vol 12. issue 4. 2012-03-30. PMID:21830088. |
friedreich ataxia (frda) is an autosomal recessive neurodegenerative disease most commonly caused by a gaa trinucleotide repeat expansion in the first intron of fxn, which reduces expression of the mitochondrial protein frataxin. |
2012-03-30 |
2023-08-12 |
human |
| Matthew Kelly, Richard D Bagnall, Roger E Peverill, Lesley Donelan, Louise Corben, Martin B Delatycki, Christopher Semsaria. A polymorphic miR-155 binding site in AGTR1 is associated with cardiac hypertrophy in Friedreich ataxia. Journal of molecular and cellular cardiology. vol 51. issue 5. 2012-01-27. PMID:21771600. |
friedreich ataxia (frda) is an autosomal recessive neurodegenerative condition with a heterogeneous cardiac phenotype caused primarily by an expanded gaa trinucleotide repeat in the frataxin gene (fxn). |
2012-01-27 |
2023-08-12 |
Not clear |
| Philip M Mottram, Martin B Delatycki, Lesley Donelan, John S Gelman, Louise Corben, Roger E Peveril. Early changes in left ventricular long-axis function in Friedreich ataxia: relation with the FXN gene mutation and cardiac structural change. Journal of the American Society of Echocardiography : official publication of the American Society of Echocardiography. vol 24. issue 7. 2011-12-13. PMID:21570254. |
early changes in left ventricular long-axis function in friedreich ataxia: relation with the fxn gene mutation and cardiac structural change. |
2011-12-13 |
2023-08-12 |
Not clear |
| Philip M Mottram, Martin B Delatycki, Lesley Donelan, John S Gelman, Louise Corben, Roger E Peveril. Early changes in left ventricular long-axis function in Friedreich ataxia: relation with the FXN gene mutation and cardiac structural change. Journal of the American Society of Echocardiography : official publication of the American Society of Echocardiography. vol 24. issue 7. 2011-12-13. PMID:21570254. |
friedreich ataxia (frda) is an autosomal recessive condition due to a gaa triplet expansion in the fxn gene that causes increased left ventricular (lv) wall thickness and can progress to lv systolic dysfunction. |
2011-12-13 |
2023-08-12 |
Not clear |
| Novita Puspasari, Simone M Rowley, Lavinia Gordon, Paul J Lockhart, Panos A Ioannou, Martin B Delatycki, Joseph P Sarser. Long range regulation of human FXN gene expression. PloS one. vol 6. issue 7. 2011-10-13. PMID:21760943. |
friedreich ataxia (frda) is the most common form of hereditary ataxia characterized by the presence of a gaa trinucleotide repeat expansion within the first intron of the fxn gene. |
2011-10-13 |
2023-08-12 |
human |
| Chiranjeevi Sandi, Ricardo Mouro Pinto, Sahar Al-Mahdawi, Vahid Ezzatizadeh, Glenn Barnes, Steve Jones, James R Rusche, Joel M Gottesfeld, Mark A Poo. Prolonged treatment with pimelic o-aminobenzamide HDAC inhibitors ameliorates the disease phenotype of a Friedreich ataxia mouse model. Neurobiology of disease. vol 42. issue 3. 2011-08-23. PMID:21397024. |
friedreich ataxia (frda) is an inherited neurodegenerative disorder caused by gaa repeat expansion within the fxn gene, leading to epigenetic changes and heterochromatin-mediated gene silencing that result in a frataxin protein deficit. |
2011-08-23 |
2023-08-12 |
mouse |
| Timothy P Holloway, Simone M Rowley, Martin B Delatycki, Joseph P Sarser. Detection of interruptions in the GAA trinucleotide repeat expansion in the FXN gene of Friedreich ataxia. BioTechniques. vol 50. issue 3. 2011-08-02. PMID:21486239. |
detection of interruptions in the gaa trinucleotide repeat expansion in the fxn gene of friedreich ataxia. |
2011-08-02 |
2023-08-12 |
Not clear |
| Timothy P Holloway, Simone M Rowley, Martin B Delatycki, Joseph P Sarser. Detection of interruptions in the GAA trinucleotide repeat expansion in the FXN gene of Friedreich ataxia. BioTechniques. vol 50. issue 3. 2011-08-02. PMID:21486239. |
friedreich ataxia is a neurodegenerative disorder caused by the expansion of a gaa trinucleotide repeat sequence within the first intron of the fxn gene. |
2011-08-02 |
2023-08-12 |
Not clear |
| Mary A Selak, Elise Lyver, Elizabeth Micklow, Eric C Deutsch, Ozlem Onder, Nur Selamoglu, Claire Yager, Simon Knight, Martin Carroll, Fevzi Daldal, Andrew Dancis, David R Lynch, Jean-Emmanuel Sarr. Blood cells from Friedreich ataxia patients harbor frataxin deficiency without a loss of mitochondrial function. Mitochondrion. vol 11. issue 2. 2011-06-16. PMID:21147271. |
friedreich ataxia (frda) is an autosomal recessive neurodegenerative disorder caused by gaa triplet expansions or point mutations in the fxn gene on chromosome 9q13. |
2011-06-16 |
2023-08-12 |
Not clear |