Associated Papers
Pathological frataxin deficiency in mice causes tissue-specific alterations in iron homeostasis.
Pazos-Gil M et al.
Iscience, 2026
Integration of Evolutionary Analysis With RFdiffusion for De Novo Design of Aggregation-Resistant Frataxin.
Kırboğa KK et al.
Proteins, 2026
Partial Bypass of Frataxin Deficiency by ISCU M141I Restores Cytosolic and Nuclear Fe-S Cluster Assembly.
Mosbach V et al.
Biorxiv : the Preprint Server for Biology, 2025
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
Deciphering the ferroptosis pathways in dorsal root ganglia of Friedreich ataxia models. The role of LKB1/AMPK, KEAP1, and GSK3β in the impairment of the NRF2 response.
Sanz-Alcázar A et al.
Redox Biology, 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
Mitochondrial impairment, decreased sirtuin activity and protein acetylation in dorsal root ganglia in Friedreich Ataxia models.
Sanz-Alcázar A et al.
Cellular and Molecular Life Sciences : Cmls, 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
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
Molecular Details of the Frataxin-Scaffold Interaction during Mitochondrial Fe-S Cluster Assembly.
Campbell CJ et al.
International Journal of Molecular Sciences, 2021
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
GRP75 overexpression rescues frataxin deficiency and mitochondrial phenotypes in Friedreich ataxia cellular models.
Dong YN et al.
Human Molecular Genetics, 2019
Ferroptosis as a Novel Therapeutic Target for Friedreich's Ataxia.
Cotticelli MG et al.
The Journal of Pharmacology and Experimental Therapeutics, 2019
Peripheral blood gene expression reveals an inflammatory transcriptomic signature in Friedreich's ataxia patients.
Nachun D et al.
Human Molecular Genetics, 2018
Interactions of iron-bound frataxin with ISCU and ferredoxin on the cysteine desulfurase complex leading to Fe-S cluster assembly.
Cai K et al.
Journal of Inorganic Biochemistry, 2018
Friedreich's Ataxia: Clinical Presentation of a Compound Heterozygote Child with a Rare Nonsense Mutation and Comparison with Previously Published Cases.
Rao VK et al.
Case Reports in Neurological Medicine, 2018
Insights on the conformational dynamics of human frataxin through modifications of loop-1.
Noguera ME et al.
Archives of Biochemistry and Biophysics, 2017
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
Analyzing the Effects of a G137V Mutation in the FXN Gene.
Faggianelli N et al.
Frontiers in Molecular Neuroscience, 2015
Probing the kinetic stabilities of Friedreich's ataxia clinical variants using a solid phase GroEL chaperonin capture platform.
Correia AR et al.
Biomolecules, 2014
Human frataxin activates Fe-S cluster biosynthesis by facilitating sulfur transfer chemistry.
Bridwell-Rabb J et al.
Biochemistry, 2014
The alteration of the C-terminal region of human frataxin distorts its structural dynamics and function.
Faraj SE et al.
The Febs Journal, 2014
Pathophysiogical and therapeutic progress in Friedreich ataxia.
Puccio H et al.
Revue Neurologique, 2014
Missense mutations linked to friedreich ataxia have different but synergistic effects on mitochondrial frataxin isoforms.
Li H et al.
The Journal of Biological Chemistry, 2013
Neurodegeneration in Friedreich's ataxia: from defective frataxin to oxidative stress.
Gomes CM et al.
Oxidative Medicine and Cellular Longevity, 2013
Insights into the role of oxidative stress in the pathology of Friedreich ataxia using peroxidation resistant polyunsaturated fatty acids.
Cotticelli MG et al.
Redox Biology, 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
Structure-function analysis of Friedreich's ataxia mutants reveals determinants of frataxin binding and activation of the Fe-S assembly complex.
Bridwell-Rabb J et al.
Biochemistry, 2011
Friedreich's ataxia variants I154F and W155R diminish frataxin-based activation of the iron-sulfur cluster assembly complex.
Tsai CL et al.
Biochemistry, 2011
Friedreich's ataxia: past, present and future.
Marmolino D
Brain Research Reviews, 2011
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
Key players and their role during mitochondrial iron-sulfur cluster biosynthesis.
Rawat S et al.
Chemistry (weinheim an Der Bergstrasse, Germany), 2011