Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 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
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
Molecular Details of the Frataxin-Scaffold Interaction during Mitochondrial Fe-S Cluster Assembly.
Campbell CJ et al.
International Journal of Molecular Sciences, 2021
A Highly Conserved Iron-Sulfur Cluster Assembly Machinery between Humans and Amoeba Dictyostelium discoideum: The Characterization of Frataxin.
Olmos J et al.
International Journal of Molecular Sciences, 2020
Characterization of human frataxin missense variants in cancer tissues.
Petrosino M et al.
Human Mutation, 2019
Compound heterozygous FXN mutations and clinical outcome in friedreich ataxia.
Galea CA et al.
Annals of Neurology, 2016
Perturbation of cellular proteostasis networks identifies pathways that modulate precursor and intermediate but not mature levels of frataxin.
Nabhan JF et al.
Scientific Reports, 2015
Biological and clinical characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS) cohort: a cross-sectional analysis of baseline data.
Reetz K et al.
The Lancet. Neurology, 2015
Stable isotopes and LC-MS for monitoring metabolic disturbances in Friedreich's ataxia platelets.
Worth AJ et al.
Bioanalysis, 2015
Neurodegeneration in Friedreich's ataxia: from defective frataxin to oxidative stress.
Gomes CM et al.
Oxidative Medicine and Cellular Longevity, 2013
A combined nucleic acid and protein analysis in Friedreich ataxia: implications for diagnosis, pathogenesis and clinical trial design.
Saccà F et al.
Plos One, 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
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
Frataxin gene point mutations in Italian Friedreich ataxia patients.
Gellera C et al.
Neurogenetics, 2007
Mitochondrial frataxin interacts with ISD11 of the NFS1/ISCU complex and multiple mitochondrial chaperones.
Shan Y et al.
Human Molecular Genetics, 2007
Decreased expression of genes involved in sulfur amino acid metabolism in frataxin-deficient cells.
Tan G et al.
Human Molecular Genetics, 2003
The mitochondrial protein frataxin prevents nuclear damage.
Karthikeyan G et al.
Human Molecular Genetics, 2002
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
Distinct roles for two N-terminal cleaved domains in mitochondrial import of the yeast frataxin homolog, Yfh1p.
Gordon DM et al.
Human Molecular Genetics, 2001
Identification of three novel frameshift mutations in patients with Friedreich's ataxia.
Pook MA et al.
Journal of Medical Genetics, 2000
Accuracy of clinical diagnostic criteria for Friedreich's ataxia.
Filla A et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2000
Human frataxin maintains mitochondrial iron homeostasis in Saccharomyces cerevisiae.
Cavadini P et al.
Human Molecular Genetics, 2000
Crystal structure of human frataxin.
Dhe-Paganon S et al.
The Journal of Biological Chemistry, 2000
Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes.
Cossée M et al.
Annals of Neurology, 1999