Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for 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
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
Retinal hypoplasia and degeneration result in vision loss in Friedreich ataxia.
Rodden LN et al.
Annals of Clinical and Translational Neurology, 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
Simultaneous Quantification of Mitochondrial Mature Frataxin and Extra-Mitochondrial Frataxin Isoform E in Friedreich's Ataxia Blood.
Wang Q 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
Expanding the genotype-phenotype correlation of childhood sensory polyneuropathy of genetic origin.
Chakravorty S et al.
Scientific Reports, 2020
Hereditary Ataxia: A Focus on Heme Metabolism and Fe-S Cluster Biogenesis.
Chiabrando D et al.
International Journal of Molecular Sciences, 2020
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
Peripheral blood gene expression reveals an inflammatory transcriptomic signature in Friedreich's ataxia patients.
Nachun D et al.
Human Molecular Genetics, 2018
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
A 7-year-old girl with hypertrophic cardiomyopathy and progressive scoliosis.
Dhamija R et al.
Seminars in Pediatric Neurology, 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
Elevation of serum cardiac troponin I in a cross-sectional cohort of asymptomatic subjects with Friedreich ataxia.
Friedman LS et al.
International Journal of Cardiology, 2013
Friedreich ataxia clinical outcome measures: natural history evaluation in 410 participants.
Regner SR 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
Impaired myocardial perfusion reserve and fibrosis in Friedreich ataxia: a mitochondrial cardiomyopathy with metabolic syndrome.
Raman SV et al.
European Heart Journal, 2011
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
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
Genotype and phenotype analysis of Friedreich's ataxia compound heterozygous patients.
De Castro M et al.
Human Genetics, 2000
Identification of a missense mutation in a Friedreich's ataxia patient: implications for diagnosis and carrier studies.
Bartolo C et al.
American Journal of Medical Genetics, 1998