Associated Papers
Nanobodies as tools for studying human frataxin biology.
Pignataro MF et al.
Communications Biology, 2026
An In Silico Analysis of Genetic Variants and Structural Modeling of the Human Frataxin Protein in Friedreich's Ataxia.
Da Conceição LMA et al.
International Journal of Molecular Sciences, 2024
38891993 (PubMed )
Supplement: ijms-25-05796-s001.zip › Table_S1.pdf
CRISPR/Cas9-based edition of frataxin gene in Dictyostelium discoideum.
Gentili HG et al.
The Biochemical Journal, 2023
Protein Mutations and Stability, a Link with Disease: The Case Study of Frataxin.
Puglisi R
Biomedicines, 2022
Recent Advances in the Elucidation of Frataxin Biochemical Function Open Novel Perspectives for the Treatment of Friedreich's Ataxia.
Monfort B et al.
Frontiers in Neuroscience, 2022
Molecular Details of the Frataxin-Scaffold Interaction during Mitochondrial Fe-S Cluster Assembly.
Campbell CJ et al.
International Journal of Molecular Sciences, 2021
Insights on the conformational dynamics of human frataxin through modifications of loop-1.
Noguera ME et al.
Archives of Biochemistry and Biophysics, 2017
Compound heterozygous FXN mutations and clinical outcome in friedreich ataxia.
Galea CA et al.
Annals of Neurology, 2016
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
25670805 (PubMed )
Supplement: supp_M114.043083_mcp.M114.043083-16.xlsx › TableS9A
Stable isotopes and LC-MS for monitoring metabolic disturbances in Friedreich's ataxia platelets.
Worth AJ et al.
Bioanalysis, 2015
The alteration of the C-terminal region of human frataxin distorts its structural dynamics and function.
Faraj SE et al.
The Febs Journal, 2014
Friedreich ataxia: molecular mechanisms, redox considerations, and therapeutic opportunities.
Santos R et al.
Antioxidants & Redox Signaling, 2010
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeII_
Frataxin gene point mutations in Italian Friedreich ataxia patients.
Gellera C et al.
Neurogenetics, 2007
A novel missense mutation (L198R) in the Friedreich's ataxia gene.
Al-Mahdawi S et al.
Human Mutation, 2000
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