| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Felicity Klopper, Martin B Delatycki, Louise A Corben, John L Bradshaw, Gary Rance, Nellie Georgiou-Karistiani. The test of everyday attention reveals significant sustained volitional attention and working memory deficits in friedreich ataxia. Journal of the International Neuropsychological Society : JINS. vol 17. issue 1. 2011-05-09. PMID:21083965. |
working memory deficits correlated significantly with gaa repeat number on the shorter allele of the fxn gene, and separately, with disease severity, as measured by the friedreich ataxia rating scale score. |
2011-05-09 |
2023-08-12 |
Not clear |
| Daman Kumari, Rea Erika Biacsi, Karen Usdi. Repeat expansion affects both transcription initiation and elongation in friedreich ataxia cells. The Journal of biological chemistry. vol 286. issue 6. 2011-03-24. PMID:21127046. |
expansion of a gaa · ttc repeat in the first intron of the frataxin (fxn) gene causes an mrna deficit that results in friedreich ataxia (frda). |
2011-03-24 |
2023-08-12 |
Not clear |
| Oleksandr Gakh, Tibor Bedekovics, Samantha F Duncan, Douglas Y Smith, Donald S Berkholz, Grazia Isay. Normal and Friedreich ataxia cells express different isoforms of frataxin with complementary roles in iron-sulfur cluster assembly. The Journal of biological chemistry. vol 285. issue 49. 2010-12-30. PMID:20889968. |
friedreich ataxia (frda) is an autosomal recessive degenerative disease caused by insufficient expression of frataxin (fxn), a mitochondrial iron-binding protein required for fe-s cluster assembly. |
2010-12-30 |
2023-08-12 |
Not clear |
| Kuanyu Li, Anamika Singh, Daniel R Crooks, Xiaoman Dai, Zhuangzhuang Cong, Liang Pan, Dung Ha, Tracey A Rouaul. Expression of human frataxin is regulated by transcription factors SRF and TFAP2. PloS one. vol 5. issue 8. 2010-11-04. PMID:20808827. |
friedreich ataxia 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. |
2010-11-04 |
2023-08-12 |
human |
| Miriam Mancuso, Mimi C Sammarco, Ed Grabczy. Transposon Tn7 preferentially inserts into GAA*TTC triplet repeats under conditions conducive to Y*R*Y triplex formation. PloS one. vol 5. issue 6. 2010-09-01. PMID:20559546. |
expansion of an unstable gaa*ttc repeat in the first intron of the fxn gene causes friedreich ataxia by reducing frataxin expression. |
2010-09-01 |
2023-08-12 |
Not clear |
| Tanel Punga, Marc Bühle. Long intronic GAA repeats causing Friedreich ataxia impede transcription elongation. EMBO molecular medicine. vol 2. issue 4. 2010-06-21. PMID:20373285. |
friedreich ataxia is a degenerative disease caused by deficiency of the protein frataxin (fxn). |
2010-06-21 |
2023-08-12 |
human |
| Irene De Biase, Yogesh K Chutake, Paul M Rindler, Sanjay I Bidichandan. Epigenetic silencing in Friedreich ataxia is associated with depletion of CTCF (CCCTC-binding factor) and antisense transcription. PloS one. vol 4. issue 11. 2010-04-26. PMID:19956589. |
friedreich ataxia (frda) patients are homozygous for an expanded gaa triplet-repeat sequence in intron 1 of the fxn gene. |
2010-04-26 |
2023-08-12 |
Not clear |
| F Zaibak, J Kozlovski, J Vadolas, J P Sarsero, R Williamson, S E Howde. Integration of functional bacterial artificial chromosomes into human cord blood-derived multipotent stem cells. Gene therapy. vol 16. issue 3. 2010-03-26. PMID:19177134. |
we describe for the first time the creation of clonal stem cells carrying a human bacterial artificial chromosome (bac) containing the friedreich ataxia locus with an enhanced green fluorescent protein (egfp) reporter gene fused to exon 5a of the frataxin (fxn) gene. |
2010-03-26 |
2023-08-12 |
human |
| Scott Ditch, Mimi C Sammarco, Ayan Banerjee, Ed Grabczy. Progressive GAA.TTC repeat expansion in human cell lines. PLoS genetics. vol 5. issue 10. 2010-01-04. PMID:19876374. |
friedreich ataxia (frda) is a relentlessly progressive neurodegenerative disorder caused by gaa.ttc repeat expansion in the first intron of the fxn gene. |
2010-01-04 |
2023-08-12 |
human |
| Valerio Carelli, Chiara La Morgia, Maria Lucia Valentino, Piero Barboni, Fred N Ross-Cisneros, Alfredo A Sadu. Retinal ganglion cell neurodegeneration in mitochondrial inherited disorders. Biochimica et biophysica acta. vol 1787. issue 5. 2009-07-28. PMID:19268652. |
we will consider mtdna based syndromes such as lhon/dystonia/mitochondrial encephalomyopahty lactic acidosis stroke-like (melas)/leigh overlapping syndrome, or nuclear based diseases such as friedreich ataxia (mutations in fxn gene), deafness-dystonia-optic atrophy (mohr-tranebjerg) syndrome (mutations in timm8a), complicated hereditary spastic paraplegia (mutations in spg7), doa "plus" syndromes (mutations in opa1), charcot-marie-tooth type 2a (cmt2a) with optic atrophy or hereditary motor and sensory neuropathy type vi (hmsn vi) (mutations in mfn2), and costeff syndrome and doa with cataract (mutations in opa3). |
2009-07-28 |
2023-08-12 |
Not clear |
| Jörg B Schulz, Sylvia Boesch, Katrin Bürk, Alexandra Dürr, Paola Giunti, Caterina Mariotti, Francoise Pousset, Ludger Schöls, Pierre Vankan, Massimo Pandolf. Diagnosis and treatment of Friedreich ataxia: a European perspective. Nature reviews. Neurology. vol 5. issue 4. 2009-06-25. PMID:19347027. |
friedreich ataxia is usually caused by a large gaa-triplet-repeat expansion within the first intron of the frataxin (fxn) gene. |
2009-06-25 |
2023-08-12 |
Not clear |
| Hélène Pucci. Multicellular models of Friedreich ataxia. Journal of neurology. vol 256 Suppl 1. 2009-04-27. PMID:19283346. |
patients with friedreich ataxia (frda) have severely reduced levels of the mitochondrial protein frataxin, which results from a large gaa triplet-repeat expansion within the frataxin gene (fxn). |
2009-04-27 |
2023-08-12 |
mouse |
| I Castaldo, M Pinelli, A Monticelli, F Acquaviva, M Giacchetti, A Filla, S Sacchetti, S Keller, V E Avvedimento, L Chiariotti, S Cocozz. DNA methylation in intron 1 of the frataxin gene is related to GAA repeat length and age of onset in Friedreich ataxia patients. Journal of medical genetics. vol 45. issue 12. 2009-02-02. PMID:18697824. |
the most frequent mutation of friedreich ataxia (frda) is the abnormal expansion of a gaa repeat located within the first intron of fxn gene. |
2009-02-02 |
2023-08-12 |
Not clear |
| E Soragni, D Herman, S Y R Dent, J M Gottesfeld, R D Wells, M Napieral. Long intronic GAA*TTC repeats induce epigenetic changes and reporter gene silencing in a molecular model of Friedreich ataxia. Nucleic acids research. vol 36. issue 19. 2008-11-28. PMID:18820300. |
friedreich ataxia (frda) is caused by hyperexpansion of gaa*ttc repeats located in the first intron of the fxn gene, which inhibits transcription leading to the deficiency of frataxin. |
2008-11-28 |
2023-08-12 |
Not clear |
| Marco Baralle, Tibor Pastor, Erica Bussani, Franco Pagan. Influence of Friedreich ataxia GAA noncoding repeat expansions on pre-mRNA processing. American journal of human genetics. vol 83. issue 1. 2008-07-29. PMID:18597733. |
the intronic gaa repeat expansion in the frataxin (fxn) gene causes the hereditary neurodegenerative disorder friedreich ataxia. |
2008-07-29 |
2023-08-12 |
Not clear |
| Robert D Well. DNA triplexes and Friedreich ataxia. FASEB journal : official publication of the Federation of American Societies for Experimental Biology. vol 22. issue 6. 2008-07-16. PMID:18211957. |
friedreich ataxia, the most common inherited ataxia, is caused by the transcriptional silencing of the fxn gene, which codes for the 210 amino acid frataxin, a mitochondrial protein involved in iron-sulfur cluster biosynthesis. |
2008-07-16 |
2023-08-12 |
Not clear |
| Cinzia Gellera, Barbara Castellotti, Caterina Mariotti, Rossana Mineri, Viviana Seveso, Stefano Didonato, Franco Taron. Frataxin gene point mutations in Italian Friedreich ataxia patients. Neurogenetics. vol 8. issue 4. 2008-04-03. PMID:17703324. |
friedreich ataxia (frda) is associated with a gaa-trinucleotide-repeat expansion in the first intron of the fxn gene (9q13-21), which encodes a 210-amino-acid protein named frataxin. |
2008-04-03 |
2023-08-12 |
Not clear |
| Sahar Al-Mahdawi, Ricardo Mouro Pinto, Ozama Ismail, Dhaval Varshney, Stefania Lymperi, Chiranjeevi Sandi, Daniah Trabzuni, Mark Poo. The Friedreich ataxia GAA repeat expansion mutation induces comparable epigenetic changes in human and transgenic mouse brain and heart tissues. Human molecular genetics. vol 17. issue 5. 2008-03-14. PMID:18045775. |
friedreich ataxia (frda) is caused by a homozygous gaa repeat expansion mutation within intron 1 of the fxn gene, leading to reduced expression of frataxin protein. |
2008-03-14 |
2023-08-12 |
mouse |
| Alain Martelli, Marie Wattenhofer-Donzé, Stéphane Schmucker, Samuel Bouvet, Laurence Reutenauer, Hélène Pucci. Frataxin is essential for extramitochondrial Fe-S cluster proteins in mammalian tissues. Human molecular genetics. vol 16. issue 22. 2007-12-20. PMID:17597094. |
friedreich ataxia, the most common recessive ataxia, is caused by the deficiency of the mitochondrial protein frataxin (fxn), an iron chaperone involved in the assembly of fe-s clusters (isc). |
2007-12-20 |
2023-08-12 |
mouse |
| Ed Grabczyk, Miriam Mancuso, Mimi C Sammarc. A persistent RNA.DNA hybrid formed by transcription of the Friedreich ataxia triplet repeat in live bacteria, and by T7 RNAP in vitro. Nucleic acids research. vol 35. issue 16. 2007-09-28. PMID:17693431. |
expansion of an unstable gaa.ttc repeat in the first intron of the fxn gene causes friedreich ataxia by reducing frataxin expression. |
2007-09-28 |
2023-08-12 |
Not clear |