Jill Napierala

Jill Napierala
Assistant Professor

Assistant Professor (P), Biochemistry & Molecular Genetics , Academic Joint Departments 2014 -

Overview

Dr. Jill Sergesketter Napierala obtained her Ph.D. in Biochemistry and Molecular Biology from Indiana University in the laboratory of Dr. David Skalnik. During her doctoral studies, she focused on defining interplay between histone modifying complexes and DNA cytosine methyltransferases. Dr. Napierala then joined the laboratory of Dr. Sharon Dent as a postdoctoral fellow at the University of Texas MD Anderson Cancer Center. Her work centered on post-translational mechanisms that regulate chromatin modifying enzyme activities in leukemia models. She has since joined the laboratory of Dr. Marek Napierala where their research program is devoted to defining molecular mechanisms underlying the neurodegenerative disorder, Friedreich’s ataxia (FRDA).

Selected Publications

Academic Article

Year	Title	Altmetric
2020	Defining Transcription Regulatory Elements in the Human Frataxin Gene: Implications for Gene Therapy. Human 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 Patients. Molecular Neurobiology. 57:2639-2653. 2020
2019	Excision of the expanded GAA repeats corrects cardiomyopathy phenotypes of iPSC-derived Friedreich's ataxia cardiomyocytes. Stem Cell Research. 40. 2019
2019	Progress in understanding Friedreich’s ataxia using human induced pluripotent stem cells. Expert 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 ganglion. PLoS ONE. 14:e0223209. 2019
2019	The current state of biomarker research for Friedreich's ataxia: A report from the 2018 FARA biomarker meeting. Future Science OA. 5. 2019
2017	Somatic instability of the expanded GAA repeats in Friedreich’s ataxia. PLoS 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 ataxia. Annals 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 diseases. JAMA Neurology. 73:1175-1177. 2016
2016	Stalled DNA Replication Forks at the Endogenous GAA Repeats Drive Repeat Expansion in Friedreich's Ataxia Cells. Cell Reports. 16:1218-1227. 2016
2016	Establishment and Maintenance of Primary Fibroblast Repositories for Rare Diseases - Friedreich's Ataxia Example. Biopreservation and Biobanking. 14:324-329. 2016
2015	Excision of expanded GAA repeats alleviates the molecular phenotype of friedreich's ataxia. Molecular Therapy. 23:1055-1065. 2015
2015	Expanded GAA repeats impede transcription elongation through the FXN gene and induce transcriptional silencing that is restricted to the FXN locus. Human Molecular Genetics. 24:6932-6943. 2015
2015	Loss of the N-terminal methyltransferase NRMT1 increases sensitivity to DNA damage and promotes mammary oncogenesis. Oncotarget. 6:12248-12263. 2015
2013	The role of chromatin modifiers in normal and malignant hematopoiesis. Blood. 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 disease. Epigenomics. 4:163-177. 2012
2011	Protein-arginine methyltransferase 1 (PRMT1) methylates Ash2L, a shared component of mammalian histone H3K4 methyltransferase complexes. Journal 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 protein. Molecular 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 locus. Gene. 341:323-333. 2004

Research Overview

Dr. Napierala's current research interests cover several aspects of FRDA molecular pathogenesis, including identification of gene expression biomarkers, defining the pathogenic impact of Frataxin point mutant proteins in cell and animal models, and determining the role of mitochondrial aldehyde dehydrogenases in mitigating oxidative stress in FRDA neuronal cell models.