Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
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
Diagnostic Yield and Genotype-Phenotype Correlations of Clinical Exome Sequencing in Hereditary Spastic Paraparesis: Experience From Eastern Spain.
Carretero-Vilarroig L et al.
European Journal of Neurology, 2026
Long-Read Sequencing Identifies Mosaic Sequence Variations in Friedreich's Ataxia-GAA Repeats.
Park J et al.
International Journal of Molecular Sciences, 2025
A global perspective on research advances and future challenges in Friedreich ataxia.
Indelicato E et al.
Nature Reviews. Neurology, 2025
Friedreich Ataxia: An (Almost) 30-Year History After Gene Discovery.
Pandolfo M
Neurology. Genetics, 2025
Design and validation of cell-based potency assays for frataxin supplementation treatments.
Mukherjee S et al.
Molecular Therapy. Methods & Clinical Development, 2024
A multiple animal and cellular models approach to study frataxin deficiency in Friedreich Ataxia.
Mosbach V et al.
Biochimica Et Biophysica Acta. Molecular Cell Research, 2024
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
Evaluating mFARS in pediatric Friedreich's ataxia: Insights from the FACHILD study.
Rummey C et al.
Annals of Clinical and Translational Neurology, 2024
A modified mouse model of Friedreich's ataxia with conditional Fxn allele homozygosity delays onset of cardiomyopathy.
Perfitt TL et al.
American Journal of Physiology. Heart and Circulatory Physiology, 2024
A peptide derived from TID1S rescues frataxin deficiency and mitochondrial defects in FRDA cellular models.
Dong YN et al.
Frontiers in Pharmacology, 2024
CRISPR/Cas9-based edition of frataxin gene in Dictyostelium discoideum.
Gentili HG et al.
The Biochemical Journal, 2023
Comparative multi-omic analyses of cardiac mitochondrial stress in three mouse models of frataxin deficiency.
Sayles NM et al.
Disease Models & Mechanisms, 2023
Decoding Neurodegeneration: A Comprehensive Review of Molecular Mechanisms, Genetic Influences, and Therapeutic Innovations.
Voicu V et al.
International Journal of Molecular Sciences, 2023
FXN gene methylation determines carrier status in Friedreich ataxia.
Lam C et al.
Journal of Medical Genetics, 2023
Retinal hypoplasia and degeneration result in vision loss in Friedreich ataxia.
Rodden LN et al.
Annals of Clinical and Translational Neurology, 2023
Neurobehavioral deficits of mice expressing a low level of G127V mutant frataxin.
Fil D et al.
Neurobiology of Disease, 2023
Determining the Likelihood of Disease Pathogenicity Among Incidentally Identified Genetic Variants in Rare Dilated Cardiomyopathy-Associated Genes.
Yang Q et al.
Journal of the American Heart Association, 2022
Protein Mutations and Stability, a Link with Disease: The Case Study of Frataxin.
Puglisi R
Biomedicines, 2022
Mice harboring the FXN I151F pathological point mutation present decreased frataxin levels, a Friedreich ataxia-like phenotype, and mitochondrial alterations.
Medina-Carbonero M et al.
Cellular and Molecular Life Sciences : Cmls, 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
De novo mutations in childhood cases of sudden unexplained death that disrupt intracellular Ca2+ regulation.
Halvorsen M et al.
Proceedings of the National Academy of Sciences of the United States of America, 2021
Molecular Details of the Frataxin-Scaffold Interaction during Mitochondrial Fe-S Cluster Assembly.
Campbell CJ et al.
International Journal of Molecular Sciences, 2021
The displacement of frataxin from the mitochondrial cristae correlates with abnormal respiratory supercomplexes formation and bioenergetic defects in cells of Friedreich ataxia patients.
Doni D et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2021
Recent advances in understanding hereditary spastic paraplegias and emerging therapies.
Lallemant-Dudek P et al.
Faculty Reviews, 2021
Mitochondrial damage and senescence phenotype of cells derived from a novel frataxin G127V point mutation mouse model of Friedreich's ataxia.
Fil D et al.
Disease Models & Mechanisms, 2020
Hereditary Ataxia: A Focus on Heme Metabolism and Fe-S Cluster Biogenesis.
Chiabrando D et al.
International Journal of Molecular Sciences, 2020
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
The NRF2 Signaling Network Defines Clinical Biomarkers and Therapeutic Opportunity in Friedreich's Ataxia.
La Rosa P 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
Charcot-Marie-Tooth disease and related disorders: an evolving landscape.
Laurá M et al.
Current Opinion in Neurology, 2019
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