All Relations between Friedreich Ataxia and fxn

Publication Sentence Publish Date Extraction Date Species
Christian Rummey, Susan Perlman, Sub H Subramony, Jennifer Farmer, David R Lync. Evaluating mFARS in pediatric Friedreich's ataxia: Insights from the FACHILD study. Annals of clinical and translational neurology. 2024-04-01. PMID:38556905. friedreich ataxia (frda) is a rare genetic disorder caused by mutations in the fxn gene, leading to progressive coordination loss and other symptoms. 2024-04-01 2024-04-03 Not clear
Megan M Shen, Christian Rummey, David R Lync. Phenotypic variation of FXN compound heterozygotes in a Friedreich ataxia cohort. Annals of clinical and translational neurology. 2024-02-24. PMID:38396238. phenotypic variation of fxn compound heterozygotes in a friedreich ataxia cohort. 2024-02-24 2024-02-26 Not clear
Megan M Shen, Christian Rummey, David R Lync. Phenotypic variation of FXN compound heterozygotes in a Friedreich ataxia cohort. Annals of clinical and translational neurology. 2024-02-24. PMID:38396238. most individuals with friedreich ataxia (frda) have homozygous gaa triplet repeat expansions in the fxn gene, correlating with a typical phenotype of ataxia and cardiomyopathy. 2024-02-24 2024-02-26 Not clear
Doni Davide, Cavion Federica, Bortolus Marco, Baschiera Elisa, Muccioli Silvia, Tombesi Giulia, d'Ettorre Federica, Daniele Ottaviani, Marchesan Elena, Leanza Luigi, Greggio Elisa, Ziviani Elena, Russo Antonella, Bellin Milena, Sartori Geppo, Carbonera Donatella, Salviati Leonardo, Costantini Paol. Human frataxin, the Friedreich ataxia deficient protein, interacts with mitochondrial respiratory chain. Cell death & disease. vol 14. issue 12. 2023-12-07. PMID:38062036. friedreich ataxia (frda) is a rare, inherited neurodegenerative disease caused by an expanded gaa repeat in the first intron of the fxn gene, leading to transcriptional silencing and reduced expression of frataxin. 2023-12-07 2023-12-17 human
Cinthia Aguilera, Anna Esteve-Garcia, Carlos Casasnovas, Valentina Vélez-Santamaria, Laura Rausell, Pablo Gargallo, Javier Garcia-Planells, Pedro Alía, Núria Llecha, Ariadna Padró-Mique. Novel intragenic deletion within the FXN gene in a patient with typical phenotype of Friedreich ataxia: may be more prevalent than we think? BMC medical genomics. vol 16. issue 1. 2023-12-02. PMID:38041144. novel intragenic deletion within the fxn gene in a patient with typical phenotype of friedreich ataxia: may be more prevalent than we think? 2023-12-02 2023-12-10 Not clear
Cinthia Aguilera, Anna Esteve-Garcia, Carlos Casasnovas, Valentina Vélez-Santamaria, Laura Rausell, Pablo Gargallo, Javier Garcia-Planells, Pedro Alía, Núria Llecha, Ariadna Padró-Mique. Novel intragenic deletion within the FXN gene in a patient with typical phenotype of Friedreich ataxia: may be more prevalent than we think? BMC medical genomics. vol 16. issue 1. 2023-12-02. PMID:38041144. friedreich ataxia is the most common inherited ataxia in europe and is mainly caused by biallelic pathogenic expansions of the gaa trinucleotide repeat in intron 1 of the fxn gene that lead to a decrease in frataxin protein levels. 2023-12-02 2023-12-10 Not clear
Saumya Maheshwari, Gabriela Vilema-Enríquez, Richard Wade-Martin. Patient-derived iPSC models of Friedreich ataxia: a new frontier for understanding disease mechanisms and therapeutic application. Translational neurodegeneration. vol 12. issue 1. 2023-09-19. PMID:37726850. friedreich ataxia (frda) is a rare genetic multisystem disorder caused by a pathological gaa trinucleotide repeat expansion in the fxn gene. 2023-09-19 2023-10-07 Not clear
Maria M Krasilnikova, Casey L Humphries, Emily M Shinsk. Friedreich's ataxia: new insights. Emerging topics in life sciences. 2023-09-12. PMID:37698160. friedreich ataxia (frda) is an inherited disease that is typically caused by gaa repeat expansion within the first intron of the fxn gene coding for frataxin. 2023-09-12 2023-10-07 Not clear
Camille Bouchard, Catherine Gérard, Solange Gni-Fiene Yanyabé, Nathalie Majeau, Malek Aloui, Gabrielle Buisson, Pouiré Yameogo, Vanessa Couture, Jacques P Trembla. Finding an Appropriate Mouse Model to Study the Impact of a Treatment for Friedreich Ataxia on the Behavioral Phenotype. Genes. vol 14. issue 8. 2023-08-26. PMID:37628705. friedreich ataxia (frda) is a progressive neurodegenerative disease caused by a gaa repeat in the intron 1 of the frataxin gene (fxn) leading to a lower expression of the frataxin protein. 2023-08-26 2023-09-07 mouse
Layne N Rodden, Kellie McIntyre, Medina Keita, Mckenzie Wells, Courtney Park, Victoria Profeta, Amy Waldman, Christian Rummey, Laura J Balcer, David R Lync. Retinal hypoplasia and degeneration result in vision loss in Friedreich ataxia. Annals of clinical and translational neurology. 2023-06-19. PMID:37334854. friedreich ataxia (frda) is an inherited condition caused by a gaa triplet repeat (gaa-tr) expansion in the fxn gene. 2023-06-19 2023-08-14 Not clear
L Ramo. Dimorphic frataxin and its gene regulation by sex steroids in hamsters. Molecular genetics and genomics : MGG. 2023-03-17. PMID:36929169. the role of frataxin (fxn) has been studied extensively in friedreich ataxia patients, however, the molecular bases underlining the sex steroid-dependent gene expression profiles of fxn in adult tissues are unknown. 2023-03-17 2023-08-14 Not clear
Pouiré Yaméogo, Catherine Gérard, Nathalie Majeau, Jacques P Trembla. Removal of the GAA repeat in the heart of a Friedreich's ataxia mouse model using CjCas9. Gene therapy. 2023-02-13. PMID:36781946. most friedreich ataxia (frda) cases are caused by the elongation of the gaa repeat (gaar) sequence in the first intron of the fxn gene, leading to a decrease of the frataxin protein expression. 2023-02-13 2023-08-14 mouse
Catherine Gérard, Annabelle Fortin Archambault, Camille Bouchard, Jacques P Trembla. A promissing mouse model for Friedreich Ataxia progressing like human patients. Behavioural brain research. 2022-09-11. PMID:36089099. friedreich ataxia (frda) is a genetic disease caused by an expended gaa repeat in the fxn gene leading to a reduction in frataxin protein production. 2022-09-11 2023-08-14 mouse
Thomas M O'Connell, David L Logsdon, R Mark Payn. Metabolomics analysis reveals dysregulation in one carbon metabolism in Friedreich Ataxia. Molecular genetics and metabolism. 2022-07-07. PMID:35798654. friedreich ataxia (fa) is a rare and often fatal autosomal recessive disease in which a mitochondrial protein, frataxin (fxn), is severely reduced in all tissues. 2022-07-07 2023-08-14 human
Layne N Rodden, Kaitlyn M Gilliam, Christina Lam, Teerapat Rojsajjakul, Clementina Mesaros, Chiara Dionisi, Mark Pook, Massimo Pandolfo, David R Lynch, Ian A Blair, Sanjay I Bidichandan. DNA methylation in Friedreich ataxia silences expression of frataxin isoform E. Scientific reports. vol 12. issue 1. 2022-03-24. PMID:35322126. dna methylation in friedreich ataxia silences expression of frataxin isoform e. epigenetic silencing in friedreich ataxia (frda), induced by an expanded gaa triplet-repeat in intron 1 of the fxn gene, results in deficiency of the mitochondrial protein, frataxin. 2022-03-24 2023-08-13 mouse
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