| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Michael Lazaropoulos, Yina Dong, Elisia Clark, Nathaniel R Greeley, Lauren A Seyer, Karlla W Brigatti, Carlton Christie, Susan L Perlman, George R Wilmot, Christoper M Gomez, Katherine D Mathews, Grace Yoon, Theresa Zesiewicz, Chad Hoyle, Sub H Subramony, Alicia F Brocht, Jennifer M Farmer, Robert B Wilson, Eric C Deutsch, David R Lync. Frataxin levels in peripheral tissue in Friedreich ataxia. Annals of clinical and translational neurology. vol 2. issue 8. 2015-09-04. PMID:26339677. |
friedreich ataxia (frda) is an autosomal recessive ataxia resulting from mutations in the frataxin gene (fxn). |
2015-09-04 |
2023-08-13 |
Not clear |
| Yogesh K Chutake, Christina Lam, Whitney N Costello, Michael Anderson, Sanjay I Bidichandan. Epigenetic promoter silencing in Friedreich ataxia is dependent on repeat length. Annals of neurology. vol 76. issue 4. 2014-12-11. PMID:25112975. |
friedreich ataxia (frda) is caused by an expanded gaa triplet-repeat (gaa-tr) mutation in the fxn gene. |
2014-12-11 |
2023-08-13 |
Not clear |
| Mohammad Hossein Salehi, Behnam Kamalidehghan, Massoud Houshmand, Goh Yong Meng, Majid Sadeghizadeh, Omid Aryani, Shahriar Nafiss. Gene expression profiling of mitochondrial oxidative phosphorylation (OXPHOS) complex I in Friedreich ataxia (FRDA) patients. PloS one. vol 9. issue 4. 2014-12-03. PMID:24705504. |
friedreich ataxia (frda) is the most frequent progressive autosomal recessive disorder associated with unstable expansion of gaa trinucleotide repeats in the first intron of the fxn gene, which encodes for the mitochondrial frataxin protein. |
2014-12-03 |
2023-08-13 |
Not clear |
| Shuangying Hao, Fangxia Xu, Kuanyu L. [Production and application of polyclonal antibody against mouse frataxin]. Sheng wu gong cheng xue bao = Chinese journal of biotechnology. vol 29. issue 9. 2014-11-06. PMID:24409694. |
friedreich ataxia (frda) is an autosomal recessive neurodegenerative disease caused by reduced expression levels of the frataxin gene (fxn) due to expansion of triplet nucleotide gaa repeats in the first intron of fxn. |
2014-11-06 |
2023-08-12 |
mouse |
| Chiranjeevi Sandi, Madhavi Sandi, Harvinder Jassal, Vahid Ezzatizadeh, Sara Anjomani-Virmouni, Sahar Al-Mahdawi, Mark A Poo. Generation and characterisation of Friedreich ataxia YG8R mouse fibroblast and neural stem cell models. PloS one. vol 9. issue 2. 2014-10-28. PMID:24586819. |
friedreich ataxia (frda) is an autosomal recessive neurodegenerative disease caused by gaa repeat expansion in the first intron of the fxn gene, which encodes frataxin, an essential mitochondrial protein. |
2014-10-28 |
2023-08-12 |
mouse |
| Yogesh K Chutake, Whitney N Costello, Christina Lam, Sanjay I Bidichandan. Altered nucleosome positioning at the transcription start site and deficient transcriptional initiation in Friedreich ataxia. The Journal of biological chemistry. vol 289. issue 22. 2014-10-10. PMID:24737321. |
most individuals with friedreich ataxia (frda) are homozygous for an expanded gaa triplet repeat (gaa-tr) mutation in intron 1 of the fxn gene, which results in deficiency of fxn transcript. |
2014-10-10 |
2023-08-13 |
Not clear |
| Eric C Deutsch, Devin Oglesbee, Nathaniel R Greeley, David R Lync. Usefulness of frataxin immunoassays for the diagnosis of Friedreich ataxia. Journal of neurology, neurosurgery, and psychiatry. vol 85. issue 9. 2014-10-02. PMID:24463479. |
friedreich ataxia (frda) is a neurodegenerative disease caused by mutations in the frataxin (fxn) gene, resulting in reduced expression of the mitochondrial protein frataxin. |
2014-10-02 |
2023-08-12 |
Not clear |
| Marguerite V Evans-Galea, Paul J Lockhart, Charles A Galea, Anthony J Hannan, Martin B Delatyck. Beyond loss of frataxin: the complex molecular pathology of Friedreich ataxia. Discovery medicine. vol 17. issue 91. 2014-09-21. PMID:24411698. |
friedreich ataxia (frda) is a devastating neurodegenerative disease caused by mutations in the frataxin gene (fxn). |
2014-09-21 |
2023-08-12 |
Not clear |
| Mohammad Hossein Salehi, Massoud Houshmand, Omid Aryani, Behnam Kamalidehghan, Elham Khalil. Molecular and clinical investigation of Iranian patients with Friedreich ataxia. Iranian biomedical journal. vol 18. issue 1. 2014-08-28. PMID:24375160. |
friedreich ataxia (frda) is an autosomal recessive disorder caused by guanine-adenine-adenine (gaa) triplet expansions in the fxn gene. |
2014-08-28 |
2023-08-12 |
Not clear |
| Chiranjeevi Sandi, Madhavi Sandi, Sara Anjomani Virmouni, Sahar Al-Mahdawi, Mark A Poo. Epigenetic-based therapies for Friedreich ataxia. Frontiers in genetics. vol 5. 2014-06-24. PMID:24917884. |
friedreich ataxia (frda) is a lethal autosomal recessive neurodegenerative disorder caused primarily by a homozygous gaa repeat expansion mutation within the first intron of the fxn gene, leading to inhibition of fxn transcription and thus reduced frataxin protein expression. |
2014-06-24 |
2023-08-13 |
Not clear |
| Sahar Al-Mahdawi, Chiranjeevi Sandi, Ricardo Mouro Pinto, Mark A Poo. Friedreich ataxia patient tissues exhibit increased 5-hydroxymethylcytosine modification and decreased CTCF binding at the FXN locus. PloS one. vol 8. issue 9. 2014-04-08. PMID:24023969. |
friedreich ataxia patient tissues exhibit increased 5-hydroxymethylcytosine modification and decreased ctcf binding at the fxn locus. |
2014-04-08 |
2023-08-12 |
Not clear |
| Sahar Al-Mahdawi, Chiranjeevi Sandi, Ricardo Mouro Pinto, Mark A Poo. Friedreich ataxia patient tissues exhibit increased 5-hydroxymethylcytosine modification and decreased CTCF binding at the FXN locus. PloS one. vol 8. issue 9. 2014-04-08. PMID:24023969. |
friedreich ataxia (frda) is caused by a homozygous gaa repeat expansion mutation within intron 1 of the fxn gene, which induces epigenetic changes and fxn gene silencing. |
2014-04-08 |
2023-08-12 |
Not clear |
| Christian Clemm von Hohenberg, Michael F Schocke, Marlene C Wigand, Wolfgang Nachbauer, Charles R G Guttmann, Marek Kubicki, Martha E Shenton, Sylvia Boesch, Karl Egge. Radial diffusivity in the cerebellar peduncles correlates with clinical severity in Friedreich ataxia. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology. vol 34. issue 8. 2014-03-20. PMID:23640016. |
friedreich ataxia (frda) is a common inherited ataxia, caused by an expanded gaa repeat sequence in the frataxin (fxn) gene. |
2014-03-20 |
2023-08-12 |
Not clear |
| Wolfgang Nachbauer, Sylvia Boesch, Rainer Schneider, Andreas Eigentler, Julia Wanschitz, Werner Poewe, Michael Schock. Bioenergetics of the calf muscle in Friedreich ataxia patients measured by 31P-MRS before and after treatment with recombinant human erythropoietin. PloS one. vol 8. issue 7. 2014-02-18. PMID:23922695. |
friedreich ataxia (frda) is caused by a gaa repeat expansion in the fxn gene leading to reduced expression of the mitochondrial protein frataxin. |
2014-02-18 |
2023-08-12 |
human |
| Heather L Plasterer, Eric C Deutsch, Matthew Belmonte, Elizabeth Egan, David R Lynch, James R Rusch. Development of frataxin gene expression measures for the evaluation of experimental treatments in Friedreich's ataxia. PloS one. vol 8. issue 5. 2013-12-16. PMID:23691127. |
friedreich ataxia is a progressive neurodegenerative disorder caused by gaa triplet repeat expansions or point mutations in the fxn gene and, ultimately, a deficiency in the levels of functional frataxin protein. |
2013-12-16 |
2023-08-12 |
Not clear |
| Devin Oglesbee, Charles Kroll, Oleksandr Gakh, Eric C Deutsch, David R Lynch, Ralitza Gavrilova, Silvia Tortorelli, Kimiyo Raymond, Dimitar Gavrilov, Piero Rinaldo, Dietrich Matern, Grazia Isay. High-throughput immunoassay for the biochemical diagnosis of Friedreich ataxia in dried blood spots and whole blood. Clinical chemistry. vol 59. issue 10. 2013-12-06. PMID:23838345. |
friedreich ataxia (frda) is caused by reduced frataxin (fxn) concentrations. |
2013-12-06 |
2023-08-12 |
Not clear |
| Francesco Saccà, Angela Marsili, Giorgia Puorro, Antonella Antenora, Chiara Pane, Alessandra Tessa, Pasquale Scoppettuolo, Claudia Nesti, Vincenzo Brescia Morra, Giuseppe De Michele, Filippo M Santorelli, Alessandro Fill. Clinical use of frataxin measurement in a patient with a novel deletion in the FXN gene. Journal of neurology. vol 260. issue 4. 2013-09-26. PMID:23196337. |
friedreich ataxia (frda) is caused by a gaa expansion in the first intron of the fxn gene, which encodes frataxin. |
2013-09-26 |
2023-08-12 |
Not clear |
| Simonetta Bandiera, François Cartault, Anne-Sophie Jannot, Elie Hatem, Muriel Girard, Laila Rifai, Clemence Loiseau, Arnold Munnich, Stanislas Lyonnet, Alexandra Henrion-Caud. Genetic variations creating microRNA target sites in the FXN 3'-UTR affect frataxin expression in Friedreich ataxia. PloS one. vol 8. issue 1. 2013-08-01. PMID:23382970. |
genetic variations creating microrna target sites in the fxn 3'-utr affect frataxin expression in friedreich ataxia. |
2013-08-01 |
2023-08-12 |
Not clear |
| Hongqiao Li, Oleksandr Gakh, Douglas Y Smith, Wasantha K Ranatunga, Grazia Isay. Missense mutations linked to friedreich ataxia have different but synergistic effects on mitochondrial frataxin isoforms. The Journal of biological chemistry. vol 288. issue 6. 2013-04-19. PMID:23269675. |
in most friedreich ataxia patients, a large gaa-repeat expansion is present within the first intron of both frda alleles, that results in transcriptional silencing ultimately leading to insufficient levels of fxn protein in the mitochondrial matrix and probably other cellular compartments. |
2013-04-19 |
2023-08-12 |
human |
| Haiyan Xia, Yun Cao, Xiaoman Dai, Zvonimir Marelja, Di Zhou, Ran Mo, Sahar Al-Mahdawi, Mark A Pook, Silke Leimkühler, Tracey A Rouault, Kuanyu L. Novel frataxin isoforms may contribute to the pathological mechanism of Friedreich ataxia. PloS one. vol 7. issue 10. 2013-04-09. PMID:23082224. |
friedreich ataxia (frda) is an inherited neurodegenerative disease caused by frataxin (fxn) deficiency. |
2013-04-09 |
2023-08-12 |
Not clear |