Associated Papers
Integration of Evolutionary Analysis With RFdiffusion for De Novo Design of Aggregation-Resistant Frataxin.
Kırboğa KK et al.
Proteins, 2026
Nanobodies as tools for studying human frataxin biology.
Pignataro MF et al.
Communications Biology, 2026
A global perspective on research advances and future challenges in Friedreich ataxia.
Indelicato E et al.
Nature Reviews. Neurology, 2025
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
Phenotypic variation of FXN compound heterozygotes in a Friedreich ataxia cohort.
Shen MM et al.
Annals of Clinical and Translational Neurology, 2024
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
Conformational stability, dynamics and function of human frataxin: Tryptophan side chain interplay.
Espeche LD et al.
Archives of Biochemistry and Biophysics, 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
A Combined Spectroscopic and In Silico Approach to Evaluate the Interaction of Human Frataxin with Mitochondrial Superoxide Dismutase.
Doni D et al.
Biomedicines, 2021
Molecular Details of the Frataxin-Scaffold Interaction during Mitochondrial Fe-S Cluster Assembly.
Campbell CJ et al.
International Journal of Molecular Sciences, 2021
Exploring iron-binding to human frataxin and to selected Friedreich ataxia mutants by means of NMR and EPR spectroscopies.
Bellanda M et al.
Biochimica Et Biophysica Acta. Proteins and Proteomics, 2019
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Structure of the human frataxin-bound iron-sulfur cluster assembly complex provides insight into its activation mechanism.
Fox NG et al.
Nature Communications, 2019
GRP75 overexpression rescues frataxin deficiency and mitochondrial phenotypes in Friedreich ataxia cellular models.
Dong YN et al.
Human Molecular Genetics, 2019
Identification of a novel missense mutation in Friedreich's ataxia -FXNW 168R.
Clark E et al.
Annals of Clinical and Translational Neurology, 2019
Interactions of iron-bound frataxin with ISCU and ferredoxin on the cysteine desulfurase complex leading to Fe-S cluster assembly.
Cai K et al.
Journal of Inorganic Biochemistry, 2018
Insights on the conformational dynamics of human frataxin through modifications of loop-1.
Noguera ME et al.
Archives of Biochemistry and Biophysics, 2017
Selected missense mutations impair frataxin processing in Friedreich ataxia.
Clark E et al.
Annals of Clinical and Translational Neurology, 2017
Compound heterozygous FXN mutations and clinical outcome in friedreich ataxia.
Galea CA et al.
Annals of Neurology, 2016
Frataxin levels in peripheral tissue in Friedreich ataxia.
Lazaropoulos M et al.
Annals of Clinical and Translational Neurology, 2015
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
Analyzing the Effects of a G137V Mutation in the FXN Gene.
Faggianelli N et al.
Frontiers in Molecular Neuroscience, 2015
Human frataxin activates Fe-S cluster biosynthesis by facilitating sulfur transfer chemistry.
Bridwell-Rabb J et al.
Biochemistry, 2014
The alteration of the C-terminal region of human frataxin distorts its structural dynamics and function.
Faraj SE et al.
The Febs Journal, 2014
Pathophysiogical and therapeutic progress in Friedreich ataxia.
Puccio H et al.
Revue Neurologique, 2014
Missense mutations linked to friedreich ataxia have different but synergistic effects on mitochondrial frataxin isoforms.
Li H et al.
The Journal of Biological Chemistry, 2013
Neurodegeneration in Friedreich's ataxia: from defective frataxin to oxidative stress.
Gomes CM et al.
Oxidative Medicine and Cellular Longevity, 2013
Unanswered questions in Friedreich ataxia.
Lynch DR et al.
Journal of Child Neurology, 2012
Understanding the genetic and molecular pathogenesis of Friedreich's ataxia through animal and cellular models.
Martelli A et al.
Disease Models & Mechanisms, 2012
Initial experience in the treatment of inherited mitochondrial disease with EPI-743.
Enns GM et al.
Molecular Genetics and Metabolism, 2012
Structure-function analysis of Friedreich's ataxia mutants reveals determinants of frataxin binding and activation of the Fe-S assembly complex.
Bridwell-Rabb J et al.
Biochemistry, 2011
Friedreich's ataxia variants I154F and W155R diminish frataxin-based activation of the iron-sulfur cluster assembly complex.
Tsai CL et al.
Biochemistry, 2011
Mammalian frataxin: an essential function for cellular viability through an interaction with a preformed ISCU/NFS1/ISD11 iron-sulfur assembly complex.
Schmucker S et al.
Plos One, 2011
Key players and their role during mitochondrial iron-sulfur cluster biosynthesis.
Rawat S et al.
Chemistry (weinheim an Der Bergstrasse, Germany), 2011
Friedreich ataxia: molecular mechanisms, redox considerations, and therapeutic opportunities.
Santos R et al.
Antioxidants & Redox Signaling, 2010
Frataxin interacts with Isu1 through a conserved tryptophan in its beta-sheet.
Leidgens S et al.
Human Molecular Genetics, 2010
The conserved Trp155 in human frataxin as a hotspot for oxidative stress related chemical modifications.
Correia AR et al.
Biochemical and Biophysical Research Communications, 2009
The first cellular models based on frataxin missense mutations that reproduce spontaneously the defects associated with Friedreich ataxia.
Calmels N et al.
Plos One, 2009
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Friedreich ataxia: an update on animal models, frataxin function and therapies.
González-Cabo P et al.
Advances in Experimental Medicine and Biology, 2009
Dynamics, stability and iron-binding activity of frataxin clinical mutants.
Correia AR et al.
The Febs Journal, 2008
Frataxin gene point mutations in Italian Friedreich ataxia patients.
Gellera C et al.
Neurogenetics, 2007