Associated Papers
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
Decoding Neurodegeneration: A Comprehensive Review of Molecular Mechanisms, Genetic Influences, and Therapeutic Innovations.
Voicu V et al.
International Journal of Molecular Sciences, 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
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
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
Neurodegeneration in Friedreich's ataxia: from defective frataxin to oxidative stress.
Gomes CM et al.
Oxidative Medicine and Cellular Longevity, 2013
Friedreich ataxia clinical outcome measures: natural history evaluation in 410 participants.
Regner SR et al.
Journal of Child Neurology, 2012
Friedreich ataxia: molecular mechanisms, redox considerations, and therapeutic opportunities.
Santos R et al.
Antioxidants & Redox Signaling, 2010
Frataxin gene point mutations in Italian Friedreich ataxia patients.
Gellera C et al.
Neurogenetics, 2007
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 the molecular pathogenesis of Friedreich ataxia.
Puccio H et al.
Human Molecular Genetics, 2000
The correlation of clinical phenotype in Friedreich ataxia with the site of point mutations in the FRDA gene.
Forrest SM et al.
Neurogenetics, 1998