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Plos One|October 31, 2019
Potential biomarker identification for Friedreich's ataxia using overlapping gene expression patterns in patient cells and mouse dorsal root ganglionMarissa Z McMackin, Blythe Durbin-Johnson, Marek Napierala, et al.
Stem Cell Research|March 22, 2026
Generation of Friedreich's ataxia induced pluripotent stem cells carrying the FXN c.165 + 5G>C splicing mutationPouiré Yameogo, Brandon J Gerhart, Monica F Sentmanat, et al.
Molecular Neurobiology|April 16, 2020
A Comprehensive Transcriptome Analysis Identifies FXN and BDNF as Novel Targets of miRNAs in Friedreich's Ataxia PatientsJulia O Misiorek, Anna M Schreiber, Martyna O Urbanek-Trzeciak, et al.
Molecular Therapy. Methods & Clinical Development|January 17, 2025
Design and validation of cell-based potency assays for frataxin supplementation treatmentsShibani Mukherjee, Larisa Pereboeva, Daniel Fil, et al.
Biopreservation and Biobanking|March 23, 2016
Establishment and Maintenance of Primary Fibroblast Repositories for Rare Diseases-Friedreich's Ataxia ExampleYanjie Li, Urszula Polak, Amanda D Clark, et al.
Disease Models & Mechanisms|June 27, 2020
Mitochondrial damage and senescence phenotype of cells derived from a novel frataxin G127V point mutation mouse model of Friedreich's ataxiaDaniel Fil, Balu K Chacko, Robbie Conley, et al.
Human Molecular Genetics|September 25, 2015
Expanded GAA repeats impede transcription elongation through the FXN gene and induce transcriptional silencing that is restricted to the FXN locusYanjie Li, Yue Lu, Urszula Polak, et al.
Nucleic Acids Research|October 31, 2021
Targeting 3' and 5' untranslated regions with antisense oligonucleotides to stabilize frataxin mRNA and increase protein expressionYanjie Li, Jixue Li, Jun Wang, et al.
Journal of Lipid Research|July 19, 2022
Skin fibroblast metabolomic profiling reveals that lipid dysfunction predicts the severity of Friedreich's ataxiaDezhen Wang, Elaine S Ho, M Grazia Cotticelli, et al.
Disease Models & Mechanisms|September 15, 2022
Acute frataxin knockdown in induced pluripotent stem cell-derived cardiomyocytes activates a type I interferon responseM Grazia Cotticelli, Shujuan Xia, Rachel Truitt, et al.
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