Positions

Selected Publications

Academic Article

Year Title Altmetric
2020 Defining Transcription Regulatory Elements in the Human Frataxin Gene: Implications for Gene TherapyHuman Gene Therapy.  31:839-851. 2020
2020 Mitochondrial damage and senescence phenotype of cells derived from a novel frataxin G127V point mutation mouse model of Friedreich's ataxia 2020
2020 A Comprehensive Transcriptome Analysis Identifies FXN and BDNF as Novel Targets of miRNAs in Friedreich’s Ataxia PatientsMolecular Neurobiology.  57:2639-2653. 2020
2019 Excision of the expanded GAA repeats corrects cardiomyopathy phenotypes of iPSC-derived Friedreich's ataxia cardiomyocytesStem Cell Research.  40. 2019
2019 Therapeutic Prospects for Friedreich's AtaxiaTrends in Pharmacological Sciences.  40:229-233. 2019
2019 Progress in understanding Friedreich’s ataxia using human induced pluripotent stem cellsExpert Opinion on Orphan Drugs.  7:81-90. 2019
2019 Potential biomarker identification for Friedreich's ataxia using overlapping gene expression patterns in patient cells and mouse dorsal root ganglionPLoS ONE.  14. 2019
2019 The current state of biomarker research for Friedreich's ataxia: A report from the 2018 FARA biomarker meetingFuture Science OA.  5. 2019
2017 Somatic instability of the expanded GAA repeats in Friedreich’s ataxiaPLoS ONE.  12. 2017
2017 Comprehensive analysis of gene expression patterns in Friedreich's ataxia fibroblasts by RNA sequencing reveals altered levels of protein synthesis factors and solute carriers 2017
2017 Selected missense mutations impair frataxin processing in Friedreich ataxiaAnnals of Clinical and Translational Neurology.  4:575-584. 2017
2017 Low expression of ASH2L protein correlates with a favorable outcome in acute myeloid leukemia 2017
2016 Alleviating GAA Repeat Induced Transcriptional Silencing of the Friedreich's Ataxia Gene During Somatic Cell Reprogramming 2016
2016 New reasons to pursue the therapeutic potential of synthetic nucleic acids for neurological diseasesJAMA Neurology.  73:1175-1177. 2016
2016 Stalled DNA Replication Forks at the Endogenous GAA Repeats Drive Repeat Expansion in Friedreich's Ataxia CellsCell Reports.  16:1218-1227. 2016
2016 Establishment and Maintenance of Primary Fibroblast Repositories for Rare Diseases - Friedreich's Ataxia ExampleBiopreservation and Biobanking.  14:324-329. 2016
2015 Excision of expanded GAA repeats alleviates the molecular phenotype of friedreich's ataxiaMolecular Therapy.  23:1055-1065. 2015
2015 Friedreich's ataxia – a case of aberrant transcription termination?Transcription.  6:33-36. 2015
2015 Expanded GAA repeats impede transcription elongation through the FXN gene and induce transcriptional silencing that is restricted to the FXN locusHuman Molecular Genetics.  24:6932-6943. 2015
2015 Loss of the N-terminal methyltransferase NRMT1 increases sensitivity to DNA damage and promotes mammary oncogenesisOncotarget.  6:12248-12263. 2015
2013 The role of chromatin modifiers in normal and malignant hematopoiesisBlood.  121:3076-3084. 2013
2012 Chromatin 'resetting' during transcription elongation: A central role for methylated H3K36 2012
2012 Histone-modifying enzymes: Regulators of developmental decisions and drivers of human diseaseEpigenomics.  4:163-177. 2012
2011 Protein-arginine methyltransferase 1 (PRMT1) methylates Ash2L, a shared component of mammalian histone H3K4 methyltransferase complexesJournal of Biological Chemistry.  286:12234-12244. 2011
2009 DNA methyltransferase protein synthesis is reduced in CXXC finger protein 1 deficient embryonic stem cells 2009
2008 CFP1 interacts with DNMT1 independently of association with the Setd1 histone H3K4 methyltransferase complexes 2008
2006 PAGE separation of hemi-methylated or unmethylated oligonucleotide substrates to distinguish between maintenance and de novo DNA methyltranferase activity 2006
2005 Reduced genomic cytosine methylation and defective cellular differentiation in embryonic stem cells lacking CpG binding proteinMolecular and Cellular Biology.  25:4881-4891. 2005
2004 Identification of a genomic fragment that directs hematopoietic-specific expression of Rac2 and analysis of the DNA methylation profile of the gene locusGene.  341:323-333. 2004

Education And Training

  • University of Texas MD Anderson Cancer Center, Postdoctoral Fellowship
  • Doctor of Philosophy in Biochemistry, Indiana University-Purdue University Indianapolis 2007
  • Full Name

  • Jill Napierala