Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
Delineating the genetic landscape of Charcot-Marie-tooth disease in Türkiye: Distinct distribution, rare phenotypes, and novel variants.
Cakar A et al.
European 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
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
Mitochondrial Dynamics and Mitochondria-Lysosome Contacts in Neurogenetic Diseases.
Pijuan J et al.
Frontiers in Neuroscience, 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
A Combined Spectroscopic and In Silico Approach to Evaluate the Interaction of Human Frataxin with Mitochondrial Superoxide Dismutase.
Doni D et al.
Biomedicines, 2021
Genetic Survey of Autosomal Recessive Peripheral Neuropathy Cases Unravels High Genetic Heterogeneity in a Turkish Cohort.
Candayan A et al.
Neurology. Genetics, 2021
Molecular Details of the Frataxin-Scaffold Interaction during Mitochondrial Fe-S Cluster Assembly.
Campbell CJ et al.
International Journal of Molecular Sciences, 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
The first biallelic missense mutation in the FXN gene in a consanguineous Turkish family with Charcot-Marie-Tooth-like phenotype.
Candayan A et al.
Neurogenetics, 2020
Structure of the human frataxin-bound iron-sulfur cluster assembly complex provides insight into its activation mechanism.
Fox NG et al.
Nature Communications, 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
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
Stable isotopes and LC-MS for monitoring metabolic disturbances in Friedreich's ataxia platelets.
Worth AJ et al.
Bioanalysis, 2015
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
Neurodegeneration in Friedreich's ataxia: from defective frataxin to oxidative stress.
Gomes CM et al.
Oxidative Medicine and Cellular Longevity, 2013
Novel diagnostic paradigms for Friedreich ataxia.
Brigatti KW et al.
Journal of Child Neurology, 2012
Friedreich ataxia clinical outcome measures: natural history evaluation in 410 participants.
Regner SR et al.
Journal of Child Neurology, 2012
Unanswered questions in Friedreich ataxia.
Lynch DR 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
Blood cells from Friedreich ataxia patients harbor frataxin deficiency without a loss of mitochondrial function.
Selak MA et al.
Mitochondrion, 2011
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
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
Crystal structure of human frataxin.
Dhe-Paganon S et al.
The Journal of Biological Chemistry, 2000
Frataxin point mutations in two patients with Friedreich's ataxia and unusual clinical features.
McCormack ML et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 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