Associated Papers
Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.
Zech M et al.
Brain : a Journal of 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
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
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
Friedreich ataxia in Norway - an epidemiological, molecular and clinical study.
Wedding IM et al.
Orphanet Journal of Rare Diseases, 2015
Frataxin levels in peripheral tissue in Friedreich ataxia.
Lazaropoulos M et al.
Annals of Clinical and Translational Neurology, 2015
Neurodegeneration in Friedreich's ataxia: from defective frataxin to oxidative stress.
Gomes CM et al.
Oxidative Medicine and Cellular Longevity, 2013
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
Mitochondrial frataxin interacts with ISD11 of the NFS1/ISCU complex and multiple mitochondrial chaperones.
Shan Y et al.
Human Molecular Genetics, 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
Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes.
Cossée M et al.
Annals of Neurology, 1999