| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Marta Medina-Carbonero, Arabela Sanz-Alcázar, Elena Britti, Fabien Delaspre, Elisa Cabiscol, Joaquim Ros, Jordi Tamari. Mice harboring the FXN I151F pathological point mutation present decreased frataxin levels, a Friedreich ataxia-like phenotype, and mitochondrial alterations. Cellular and molecular life sciences : CMLS. vol 79. issue 2. 2022-01-17. PMID:35038030. |
friedreich ataxia (fa) is a rare neuro-cardiodegenerative disease caused by mutations in the frataxin (fxn) gene. |
2022-01-17 |
2023-08-13 |
mouse |
| Layne N Rodden, Yogesh K Chutake, Kaitlyn Gilliam, Christina Lam, Elisabetta Soragni, Lauren Hauser, Matthew Gilliam, Graham Wiley, Michael P Anderson, Joel M Gottesfeld, David R Lynch, Sanjay I Bidichandan. Methylated and unmethylated epialleles support variegated epigenetic silencing in Friedreich ataxia. Human molecular genetics. vol 29. issue 23. 2021-09-28. PMID:33432325. |
friedreich ataxia (frda) is typically caused by homozygosity for an expanded gaa triplet-repeat in intron 1 of the fxn gene, which results in transcriptional deficiency via epigenetic silencing. |
2021-09-28 |
2023-08-13 |
Not clear |
| Floriane Petit, Anthony Drecourt, Michaël Dussiot, Coralie Zangarelli, Olivier Hermine, Arnold Munnich, Agnès Röti. Defective palmitoylation of transferrin receptor triggers iron overload in Friedreich ataxia fibroblasts. Blood. vol 137. issue 15. 2021-09-13. PMID:33529321. |
friedreich ataxia (frda) is a frequent autosomal recessive disease caused by a gaa repeat expansion in the fxn gene encoding frataxin, a mitochondrial protein involved in iron-sulfur cluster (isc) biogenesis. |
2021-09-13 |
2023-08-13 |
Not clear |
| Chiara Villa, Mariella Legato, Alessandro Umbach, Chiara Riganti, Rebecca Jones, Beatrice Martini, Marina Boido, Claudio Medana, Irene Facchinetti, Dario Barni, Milena Pinto, Tania Arguello, Marzia Belicchi, Gigliola Fagiolari, Carla Liaci, Maurizio Moggio, Riccardo Ruffo, Carlos T Moraes, Angelo Monguzzi, Giorgio R Merlo, Yvan Torrent. Treatment with ROS detoxifying gold quantum clusters alleviates the functional decline in a mouse model of Friedreich ataxia. Science translational medicine. vol 13. issue 607. 2021-08-25. PMID:34408077. |
friedreich ataxia (frda) is caused by the reduced expression of the mitochondrial protein frataxin (fxn) due to an intronic gaa trinucleotide repeat expansion in the |
2021-08-25 |
2023-08-13 |
mouse |
| Maria Russi, Elodie Martin, Benoit D'Autréaux, Laura Tixier, Hervé Tricoire, Véronique Monnie. A Drosophila model of Friedreich ataxia with CRISPR/Cas9 insertion of GAA repeats in the frataxin gene reveals in vivo protection by N-acetyl cysteine. Human molecular genetics. vol 29. issue 17. 2021-08-24. PMID:32744307. |
friedreich ataxia (fa) is caused by gaa repeat expansions in the first intron of fxn, the gene encoding frataxin, which results in decreased gene expression. |
2021-08-24 |
2023-08-13 |
human |
| Yutong Liu, Jing Cai, Jiaqi Shen, Weichen Dong, Li Xu, Maoxin Fang, Yishan Lin, Jiali Liu, Yibing Ding, Tong Qiao, Kuanyu L. SS-31 efficacy in a mouse model of Friedreich ataxia by upregulation of frataxin expression. Human molecular genetics. 2021-08-13. PMID:34387346. |
friedreich ataxia (frda) is a serious hereditary neurodegenerative disease, mostly accompanied with hypertrophic cardiomyopathy, caused by the reduced expression of frataxin (fxn). |
2021-08-13 |
2023-08-13 |
mouse |
| Davide Doni, Giovanni Rigoni, Elisa Palumbo, Elisa Baschiera, Roberta Peruzzo, Edith De Rosa, Federico Caicci, Leonardo Passerini, Daniela Bettio, Antonella Russo, Ildiko Szabò, Maria Eugenia Soriano, Leonardo Salviati, Paola Costantin. The displacement of frataxin from the mitochondrial cristae correlates with abnormal respiratory supercomplexes formation and bioenergetic defects in cells of Friedreich ataxia patients. FASEB journal : official publication of the Federation of American Societies for Experimental Biology. vol 35. issue 3. 2021-07-26. PMID:33629768. |
friedreich ataxia (frda) is a neurodegenerative disease resulting from a severe decrease of frataxin (fxn). |
2021-07-26 |
2023-08-13 |
Not clear |
| Massimo Santoro, Alessia Perna, Piergiorgio La Rosa, Sara Petrillo, Fiorella Piemonte, Salvatore Rossi, Vittorio Riso, Tommaso Filippo Nicoletti, Anna Modoni, Maria Grazia Pomponi, Pietro Chiurazzi, Gabriella Silvestr. Compound heterozygosity for an expanded (GAA) and a (GAAGGA) repeat at FXN locus: from a diagnostic pitfall to potential clues to the pathogenesis of Friedreich ataxia. Neurogenetics. vol 21. issue 4. 2021-06-15. PMID:32638185. |
compound heterozygosity for an expanded (gaa) and a (gaagga) repeat at fxn locus: from a diagnostic pitfall to potential clues to the pathogenesis of friedreich ataxia. |
2021-06-15 |
2023-08-13 |
Not clear |
| Kathrin Reetz, Ralf-Dieter Hilgers, Susanne Isfort, Marc Dohmen, Claire Didszun, Kathrin Fedosov, Jennifer Kistermann, Caterina Mariotti, Alexandra Durr, Sylvia Boesch, Thomas Klopstock, Francisco Javier Rodríguez de Rivera Garrido, Ludger Schöls, Thomas Klockgether, Massimo Pandolfo, Rudolf Korinthenberg, Philip Lavin, Geert Molenberghs, Vincenzo Libri, Paola Giunti, Richard Festenstein, Jörg B Schul. Protocol of a randomized, double-blind, placebo-controlled, parallel-group, multicentre study of the efficacy and safety of nicotinamide in patients with Friedreich ataxia (NICOFA). Neurological research and practice. vol 1. 2021-01-13. PMID:33324899. |
in the majority of patients friedreich ataxia is caused by homozygous pathological expansion of gaa repeats in the first intron of the fxn gene. |
2021-01-13 |
2023-08-13 |
Not clear |
| Mariana Igoillo-Esteve, Ana F Oliveira, Cristina Cosentino, Federica Fantuzzi, Céline Demarez, Sanna Toivonen, Amélie Hu, Satyan Chintawar, Miguel Lopes, Nathalie Pachera, Ying Cai, Baroj Abdulkarim, Myriam Rai, Lorella Marselli, Piero Marchetti, Mohammad Tariq, Jean-Christophe Jonas, Marina Boscolo, Massimo Pandolfo, Décio L Eizirik, Miriam Cno. Exenatide induces frataxin expression and improves mitochondrial function in Friedreich ataxia. JCI insight. vol 5. issue 2. 2020-11-20. PMID:31877117. |
friedreich ataxia is caused by intronic gaa trinucleotide repeat expansions in the frataxin-encoding fxn gene that reduce frataxin expression, impair iron-sulfur cluster biogenesis, cause oxidative stress, and result in mitochondrial dysfunction and apoptosis. |
2020-11-20 |
2023-08-13 |
mouse |
| Brahim Belbellaa, Laurence Reutenauer, Nadia Messaddeq, Laurent Monassier, Hélène Pucci. High Levels of Frataxin Overexpression Lead to Mitochondrial and Cardiac Toxicity in Mouse Models. Molecular therapy. Methods & clinical development. vol 19. 2020-11-20. PMID:33209958. |
friedreich ataxia (fa) is currently an incurable inherited mitochondrial disease caused by reduced levels of frataxin (fxn). |
2020-11-20 |
2023-08-13 |
mouse |
| Joel M Gottesfel. Molecular Mechanisms and Therapeutics for the GAA·TTC Expansion Disease Friedreich Ataxia. Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics. vol 16. issue 4. 2020-08-24. PMID:31317428. |
friedreich ataxia (frda), the most common inherited ataxia, is caused by transcriptional silencing of the nuclear fxn gene, encoding the essential mitochondrial protein frataxin. |
2020-08-24 |
2023-08-13 |
Not clear |
| Liwei Weng, Qingqing Wang, Sixiang Yu, Xiaolu Yang, David R Lynch, Clementina Mesaros, Ian A Blai. Evaluation of antibodies for western blot analysis of frataxin protein isoforms. Journal of immunological methods. vol 474. 2020-05-11. PMID:31279523. |
frataxin is the protein that is down-regulated in friedreich ataxia (frda), an autosomal recessive genetic disease caused by an intronic gaa repeat expansion in intron-1 of the fxn gene. |
2020-05-11 |
2023-08-13 |
mouse |
| Castrense Savojardo, Maria Petrosino, Giulia Babbi, Samuele Bovo, Carles Corbi-Verge, Rita Casadio, Piero Fariselli, Lukas Folkman, Aditi Garg, Mostafa Karimi, Panagiotis Katsonis, Philip M Kim, Olivier Lichtarge, Pier Luigi Martelli, Alessandra Pasquo, Debnath Pal, Yang Shen, Alexey V Strokach, Paola Turina, Yaoqi Zhou, Gaia Andreoletti, Steven E Brenner, Roberta Chiaraluce, Valerio Consalvi, Emidio Capriott. Evaluating the predictions of the protein stability change upon single amino acid substitutions for the FXN CAGI5 challenge. Human mutation. vol 40. issue 9. 2020-03-13. PMID:31209948. |
experimental evidence associates amino acid substitutions of the fxn to friedreich ataxia, a neurodegenerative disorder. |
2020-03-13 |
2023-08-13 |
Not clear |
| Hiroya Naruse, Yuji Takahashi, Hiroyuki Ishiura, Takashi Matsukawa, Jun Mitsui, Yaeko Ichikawa, Masashi Hamada, Jun Shimizu, Jun Goto, Tatsushi Toda, Shoji Tsuj. Prominent Spasticity and Hyperreflexia of the Legs in a Nepalese Patient with Friedreich Ataxia. Internal medicine (Tokyo, Japan). vol 58. issue 19. 2020-01-06. PMID:31178521. |
friedreich ataxia (frda) is an autosomal recessive spinocerebellar ataxia caused by mutations of fxn. |
2020-01-06 |
2023-08-13 |
Not clear |
| Elisia Clark, Jill S Butler, Charles J Isaacs, Marek Napierala, David R Lync. Selected missense mutations impair frataxin processing in Friedreich ataxia. Annals of clinical and translational neurology. vol 4. issue 8. 2019-11-20. PMID:28812047. |
reduced fxn levels cause friedreich ataxia, a recessive neurodegenerative disease. |
2019-11-20 |
2023-08-13 |
Not clear |
| Hajar Mikaeili, Madhavi Sandi, Aurélien Bayot, Sahar Al-Mahdawi, Mark A Poo. FAST-1 antisense RNA epigenetically alters FXN expression. Scientific reports. vol 8. issue 1. 2019-11-04. PMID:30464193. |
friedreich ataxia (frda) is a multisystem genetic disorder caused by gaa repeat expansion mutations within the fxn gene, resulting in heterochromatin formation and deficiency of frataxin protein. |
2019-11-04 |
2023-08-13 |
Not clear |
| Helena Fussiger, Maria Luiza Saraiva-Pereira, Sandra Leistner-Segal, Laura Bannach Jardi. Friedreich Ataxia: Diagnostic Yield and Minimal Frequency in South Brazil. Cerebellum (London, England). vol 18. issue 1. 2019-05-20. PMID:29938355. |
friedreich ataxia (frda) is an autosomal recessive disorder due to mutations in the fxn gene. |
2019-05-20 |
2023-08-13 |
human |
| Hongting Zhao, Huihui Li, Shuangying Hao, Jiping Chen, Jing Wu, Chuanhui Song, Meng Zhang, Tong Qiao, Kuanyu L. Peptide SS-31 upregulates frataxin expression and improves the quality of mitochondria: implications in the treatment of Friedreich ataxia. Scientific reports. vol 7. issue 1. 2019-04-23. PMID:28852135. |
friedreich ataxia is a progressive neurodegenerative disease caused by the expansion of gaa trinucleotide repeats within the first intron of the fxn gene, which encodes frataxin. |
2019-04-23 |
2023-08-13 |
Not clear |
| Kai Cai, Ronnie O Frederick, Marco Tonelli, John L Markle. Interactions of iron-bound frataxin with ISCU and ferredoxin on the cysteine desulfurase complex leading to Fe-S cluster assembly. Journal of inorganic biochemistry. vol 183. 2019-04-08. PMID:29576242. |
fxn deficiency is associated with friedreich ataxia, a neurodegenerative disease. |
2019-04-08 |
2023-08-13 |
human |