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Neurobiology of Disease|January 13, 2023
Neurobehavioral deficits of mice expressing a low level of G127V mutant frataxinDaniel Fil, Robbie L Conley, Aamir R Zuberi, et al.
Disease Models & Mechanisms|September 11, 2023
Comparative multi-omic analyses of cardiac mitochondrial stress in three mouse models of frataxin deficiencyNicole M Sayles, Jill S Napierala, Josef Anrather, et al.
Human Molecular Genetics|June 16, 2022
Premature transcription termination at the expanded GAA repeats and aberrant alternative polyadenylation contributes to the Frataxin transcriptional deficit in Friedreich's ataxiaYanjie Li, Jixue Li, Jun Wang, et al.
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.
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.
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.
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