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Gene · 2395

Papers2,919

Newest first. Swiss-Prot's references are curated; PubTator's text mining finds papers that name the gene, not always ones about it.

TitleJournalYearPMIDFound bySource
Calcium dysregulation amplifies fibrotic responses to TGFβ in human Friedreich's ataxia fibroblasts.bioRxiv202642818031PubTator, text miningPubMed
Large-scale genetic profiling of hereditary ataxias in China: implications for a stepwise molecular diagnostic strategy.Transl Neurodegener202642806408PubTator, text miningPubMed
Mitochondrial Quality Control in Inherited Mitochondrial Cardiomyopathy: Convergent Pathobiology and a Testable Therapeutic Framework.Int J Mol Sci202642794697PubTator, text miningPubMed
Friedreich Ataxia: From Genetics to Mechanism to Clinical Features.Annu Rev Pathol202642754241PubTator, text miningPubMed
Serial assessment of echocardiographic measures in Friedreich ataxia.Am Heart J Plus202642733758PubTator, text miningPubMed
Ferroptosis, immune activation and MASH-related HCC.Gut202642722415PubTator, text miningPubMed
Directional information flow in human frataxin defines allosteric pathways connecting the hydrophobic core to the iron-binding ridge.FEBS J202642593048PubTator, text miningPubMed
BRD4 recruitment into HP1 condensates desilences transcription without erasure of repressive chromatin.Nat Cell Biol202642557413PubTator, text miningPubMed
Multi-omics Mendelian randomization integrating GWAS, eQTL, mQTL and pQTL data prioritizes mitochondrial gene FXN as a hypothesis-generating candidate for nephrolithiasis.Front Immunol202642548648PubTator, text miningPubMed
Evolution of Friedreich's Ataxia Management Across Established and Emerging Therapies-Systematic Review and Meta-Analysis.J Clin Med202642513621PubTator, text miningPubMed
Unlocking Sulforaphane's Potential in Friedreich Ataxia: Further Evidence from Preclinical Investigations Using Induced Pluripotent Stem Cell-Derived Sensory Neurons.Antioxid Redox Signal202642473835PubTator, text miningPubMed
Dysregulation of sphingolipid-metabolizing enzymes in Friedreich's ataxia: In vitro and in vivo insights into therapeutic targeting.iScience202642383006PubTator, text miningPubMed
Advances in Gene and Cellular Therapy in Friedreich Ataxia.Mol Diagn Ther202642373844PubTator, text miningPubMed
Frataxin deficiency drives cardiac dysfunction and transcriptional dysregulation in Friedreich ataxia iPSC model.Cell Death Dis202642331777PubTator, text miningPubMed
AAVrh.10hFXN Gene Therapy for the Cardiomyopathy of Friedreich Ataxia: A Nonrandomized Clinical Trial.JAMA Cardiol202642307907PubTator, text miningPubMed
Epigenetic reactivation in Friedreich's ataxia from benzamides to gene‑targeted chimeras.Expert Opin Drug Discov202642295329PubTator, text miningPubMed
FXN protomutations are the source of pathogenic expanded GAA alleles in Friedreich ataxia and explain its unequal population distribution.Hum Mol Genet202642262226PubTator, text miningPubMed
Assessing airway clearance dysfunction in Friedreich's ataxia: A focus on peak cough flow.J Neuromuscul Dis202642253100PubTator, text miningPubMed
Compound Heterozygote Friedreich Ataxia Patients With Covert Proximal FXN Gene Deletions.Ann Clin Transl Neurol202642227166PubTator, text miningPubMed
Development of a secretable frataxin for enhanced efficacy in treating Friedreich's Ataxia.Mol Ther Adv202642157962PubTator, text miningPubMed

gene-search-2026-11-11-0.2.0

Sources 12

  • ClinicalTrials.gov's posted results, through CTTI's AACTFreely available. Acknowledgement requested
  • ChEMBL, through Open TargetsCC BY-SA 3.0
  • ClinicalTrials.govNo license stated
  • EMBL-EBI's patent proteinsNo added restrictions. Attribution expected
  • GenBank's patent filesNo restrictions from NCBI. Submitters may hold rights
  • HGNCCC0
  • NCBI GenePublic domain (US government)
  • NIH's project files and grant-paper linksPublic domain
  • Open TargetsCC0 1.0
  • PubMedNLM's terms
  • PubTator 3Public domain
  • UniProtCC BY 4.0
Each source's terms
  • ClinicalTrials.gov's posted results, through CTTI's AACTClinicalTrials.gov data via Aggregate Analysis of ClinicalTrials.gov (AACT), CTTI. CTTI makes its materials freely available and requests acknowledgement. https://aact.ctti-clinicaltrials.org/documentation/299
  • ChEMBL, through Open TargetsCC BY-SA 3.0, for the parts from ChEMBL. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
  • ClinicalTrials.govnone stated
  • EMBL-EBI's patent proteinsEMBL-EBI's patent protein files from the EPO, JPO, KIPO and USPTO. EMBL-EBI: "EMBL-EBI itself places no additional restrictions on the use or redistribution of the data available via its Data Resources and Tools other than those provided by the original data owners" and "EMBL-EBI expects attribution (e.g. in publications, services or products) for the use of any of its Data Resources and Tools." Read on 11 Nov 2026 at https://www.ebi.ac.uk/about/terms-of-use
  • GenBank's patent filesGenBank's patent files. NCBI: "NCBI places no restrictions on the use or distribution of the GenBank data. However, some submitters may claim patent, copyright, or other intellectual property rights in all or a portion of the data they have submitted." Read on 11 Nov 2026 at https://www.ncbi.nlm.nih.gov/genbank/about/
  • HGNCCC0: https://www.genenames.org/about/license/
  • NCBI GeneNone named for the file. NCBI says information created by or for the US government on its site is in the public domain, and asks that NLM be acknowledged: https://www.ncbi.nlm.nih.gov/home/about/policies/
  • NIH's project files and grant-paper linksPublic domain (NIH RePORTER)
  • Open TargetsCC0 1.0. Open Targets asks that users cite its latest paper: Buniello et al. 2025, Open Targets Platform: facilitating therapeutic hypotheses building in drug discovery, Nucleic Acids Research 53(D1):D1467, PMID 39657122. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
  • PubMedNLM's terms
  • PubTator 3Public domain
  • UniProtCC BY 4.0. UniProt's licence file: "All databases and documents in the UniProt FTP directory may be copied and redistributed freely, without advance permission, provided that this copyright statement is reproduced with each copy." UniProt asks that users cite its latest paper: The UniProt Consortium, UniProt: the Universal Protein Knowledgebase in 2025, Nucleic Acids Research 53:D609-D617, https://doi.org/10.1093/nar/gkae1010. Read on 9 Nov 2026 at https://www.uniprot.org/help/license

ClinicalTrials.gov's data carry an international copyright outside the United States: https://clinicaltrials.gov/about-site/terms-conditions.

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