Jill Napierala, Ph.D.

Dr. Napierala received her BS in Biology and Chemistry from the University of Indianapolis in 2002. She earned her PhD degree in Biochemistry and Molecular Biology from Indiana University School of Medicine in 2007, then completed a postdoctoral fellowship in the laboratory of Dr. Sharon Dent at the University of Texas MD Anderson Cancer Center in 2012. Dr. Napierala held a faculty position at University of Alabama at Birmingham before returning to Texas to join the UT Southwestern faculty in 2022.

Research in the Napierala laboratory is entirely focused on the most commonly inherited ataxia in humans, Friedreich’s ataxia (FRDA). FRDA is a severe and progressive neurodegenerative disease caused by reduced levels of the mitochondrial protein, frataxin. Dr. Napierala’s research projects include specifying gene and protein expression patterns unique to FRDA in order to identify novel therapeutic targets and disease biomarkers; defining pathogenic mechanisms of frataxin missense mutations in FRDA; establishing a therapeutic window for frataxin expression using patient-derived induced pluripotent cell (iPSC) line models.

Undergraduate

University of Indianapolis (2002)

Graduate School

Indiana Univ Purdue Univ Sch M (2007)

• Chromatin and transcription regulation
• Friedreich's ataxia
• Modeling neurodegenerative diseases using induced pluripotent stem cells (iPSCs)
• Post-translational regulatory mechanisms
• Trinucleotide repeat expansions

Featured Publications

Targeting 3' and 5' untranslated regions with antisense oligonucleotides to stabilize frataxin mRNA and increase protein expression.

Li Y, Li J, Wang J, Lynch DR, Shen X, Corey DR, Parekh D, Bhat B, Woo C, Cherry JJ, Napierala JS, Napierala M, Nucleic Acids Res 2021 11 49 20 11560-11574

Mitochondrial damage and senescence phenotype of cells derived from a novel frataxin G127V point mutation mouse model of Friedreich's ataxia.

Fil D, Chacko BK, Conley R, Ouyang X, Zhang J, Darley-Usmar VM, Zuberi AR, Lutz CM, Napierala M, Napierala JS, Dis Model Mech 2020 07 13 7

Comprehensive analysis of gene expression patterns in Friedreich's ataxia fibroblasts by RNA sequencing reveals altered levels of protein synthesis factors and solute carriers.

Napierala JS, Li Y, Lu Y, Lin K, Hauser LA, Lynch DR, Napierala M, Dis Model Mech 2017 11 10 11 1353-1369

Stalled DNA Replication Forks at the Endogenous GAA Repeats Drive Repeat Expansion in Friedreich's Ataxia Cells.

Gerhardt J, Bhalla AD, Butler JS, Puckett JW, Dervan PB, Rosenwaks Z, Napierala M, Cell Rep 2016 08 16 5 1218-1227

Excision of Expanded GAA Repeats Alleviates the Molecular Phenotype of Friedreich's Ataxia.

Li Y, Polak U, Bhalla AD, Rozwadowska N, Butler JS, Lynch DR, Dent SYR, Napierala M, Mol Ther 2015 Jun 23 6 1055-1065

Reduced genomic cytosine methylation and defective cellular differentiation in embryonic stem cells lacking CpG binding protein.

Carlone DL, Lee JH, Young SR, Dobrota E, Butler JS, Ruiz J, Skalnik DG, Mol Cell Biol 2005 Jun 25 12 4881-91

Selected Histone Deacetylase Inhibitors Reverse the Frataxin Transcriptional Defect in a Novel Friedreich's Ataxia Induced Pluripotent Stem Cell-Derived Neuronal Reporter System.

Schreiber AM, Li Y, Chen YH, Napierala JS, Napierala M, Front Neurosci 2022 16 836476

Reverse Phase Protein Array Reveals Correlation of Retinoic Acid Metabolism With Cardiomyopathy in Friedreich's Ataxia.

Napierala JS, Rajapakshe K, Clark A, Chen YY, Huang S, Mesaros C, Xu P, Blair IA, Hauser LA, Farmer J, Lynch DR, Edwards DP, Coarfa C, Napierala M, Mol Cell Proteomics 2021 20 100094

A CRISPR-Cas9, Cre-lox, and Flp-FRT Cascade Strategy for the Precise and Efficient Integration of Exogenous DNA into Cellular Genomes.

Li J, Li Y, Pawlik KM, Napierala JS, Napierala M, CRISPR J 2020 12 3 6 470-486

Defining Transcription Regulatory Elements in the Human Frataxin Gene: Implications for Gene Therapy.

Li J, Li Y, Wang J, Gonzalez TJ, Asokan A, Napierala JS, Napierala M, Hum Gene Ther 2020 08 31 15-16 839-851

• Aspen Cancer Conference Fellow (2012)
  
• Research Training Fellowship in Ataxia (2017)
  American Academy of Neurology, National Ataxia Foundation and American Brain Foundation
• Young Investigator Award (2017)
  National Ataxia Foundation

• American Academy of Neurology (2016)