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Accumulating data from different groups have demonstrated that alteration of post-translational histone modifications is an important underlying mechanism for FXN silencing in FRDA. The relationship between chromatin architecture and histone modification marks in the FXN gene locus is likely to be i...
ORGANISM(S): Homo sapiens 
We set out to investigate whether a histone deacetylase inhibitor (HDACi) would be effective in an in vitro model for the neurodegenerative disease Friedreich ataxia (FRDA) and to evaluate safety and surrogate markers of efficacy in a phase I clinical trial in patients. In the neuronal cell model, H...
ORGANISM(S): Homo sapiens 
Frataxin (FXN) is involved in mitochondrial iron-sulfur (Fe-S) cluster biogenesis and serves to accelerate Fe-S cluster formation. FXN deficiency is associated with Friedreich ataxia, a neurodegenerative disease. Using chemical cross-linking (XL) accompanied with LC-MS/MS, we studied the the interac...
ORGANISM(S): Homo sapiens (Human) 
2018-07-11 | PXD006938 | Pride
Frataxin (FXN) is involved in mitochondrial iron-sulfur (Fe-S) cluster biogenesis and serves to accelerate Fe-S cluster formation. FXN deficiency is associated with Friedreich ataxia, a neurodegenerative disease. Using chemical cross-linking (XL) accompanied with LC-MS/MS, we studied the the interac...
ORGANISM(S): Homo sapiens (Human) 
2018-07-11 | PXD006928 | Pride
Co-immunoprecipitation was used to investigate whether the Nanobodies can interact with FXN in a cellular environment. Particularly, FXN-Specific NBs were transfected into HEK-293T cells and immunoprecipitation was performed with an anti his antibody.
ORGANISM(S): Homo sapiens (Human) 
2025-12-17 | PXD061538 | Pride
Transcriptional profiling of mouse embryonic fibroblasts harboring the Fxn G127V mutation
Total RNA sequencing of FXN knockdown or RNA editing gene knockdown in pulmonary artery endothelial cells
Correction of splicing defect in compound heterozygous FRDA patient carrying FXN 165+5G>C point mutation.
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