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
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
CRISPR/Cas9-based edition of frataxin gene in Dictyostelium discoideum.
Gentili HG et al.
The Biochemical Journal, 2023
Decoding Neurodegeneration: A Comprehensive Review of Molecular Mechanisms, Genetic Influences, and Therapeutic Innovations.
Voicu V et al.
International Journal of Molecular Sciences, 2023
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
Hereditary Ataxia: A Focus on Heme Metabolism and Fe-S Cluster Biogenesis.
Chiabrando D et al.
International Journal of Molecular Sciences, 2020
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
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
Stable isotopes and LC-MS for monitoring metabolic disturbances in Friedreich's ataxia platelets.
Worth AJ et al.
Bioanalysis, 2015
Analyzing the Effects of a G137V Mutation in the FXN Gene.
Faggianelli N et al.
Frontiers in Molecular Neuroscience, 2015
Probing the kinetic stabilities of Friedreich's ataxia clinical variants using a solid phase GroEL chaperonin capture platform.
Correia AR et al.
Biomolecules, 2014
Atypical Friedreich ataxia in patients with FXN p.R165P point mutation or comorbid hemochromatosis.
Ygland E et al.
Parkinsonism & Related Disorders, 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
Dysregulation of cellular iron metabolism in Friedreich ataxia: from primary iron-sulfur cluster deficit to mitochondrial iron accumulation.
Martelli A et al.
Frontiers in Pharmacology, 2014
Clinical features of Friedreich's ataxia: classical and atypical phenotypes.
Parkinson MH et al.
Journal of Neurochemistry, 2013
Neurodegeneration in Friedreich's ataxia: from defective frataxin to oxidative stress.
Gomes CM et al.
Oxidative Medicine and Cellular Longevity, 2013
Novel diagnostic paradigms for Friedreich ataxia.
Brigatti KW 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
A novel deletion-insertion mutation identified in exon 3 of FXN in two siblings with a severe Friedreich ataxia phenotype.
Evans-Galea MV et al.
Neurogenetics, 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
Friedreich ataxia: molecular mechanisms, redox considerations, and therapeutic opportunities.
Santos R et al.
Antioxidants & Redox Signaling, 2010
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
Friedreich ataxia: Detection of GAA repeat expansions and frataxin point mutations.
Pandolfo M
Methods in Molecular Medicine, 2006
The complex clinical and genetic classification of inherited ataxias. II. Autosomal recessive ataxias.
Di Donato S et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2001
Identification of three novel frameshift mutations in patients with Friedreich's ataxia.
Pook MA et al.
Journal of Medical Genetics, 2000
Crystal structure of human frataxin.
Dhe-Paganon S et al.
The Journal of Biological Chemistry, 2000
Recent advances in degenerative ataxias.
Klockgether T
Current Opinion in Neurology, 2000
Recent advances in the molecular pathogenesis of Friedreich ataxia.
Puccio H et al.
Human Molecular Genetics, 2000
Genotype and phenotype analysis of Friedreich's ataxia compound heterozygous patients.
De Castro M et al.
Human Genetics, 2000
Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes.
Cossée M et al.
Annals of Neurology, 1999