Jill Napierala, Ph.D. Assistant Professor School Medical School Department Neurology Graduate Programs Neuroscience Biography Joined UT Southwestern: 2022 Research: 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. Background: 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. Education Undergraduate University of Indianapolis (2002) Graduate School Indiana Univ Purdue Univ Sch M (2007) Research Interest Chromatin and transcription regulation Friedreich's ataxia Modeling neurodegenerative diseases using induced pluripotent stem cells (iPSCs) Post-translational regulatory mechanisms Trinucleotide repeat expansions Publications Design and validation of cell-based potency assays for frataxin supplementation treatments Mukherjee S, Pereboeva L, Fil D, Saikia A, Lee J, Li J, Cotticelli MG, Soragni E, Wilson RB, Napierala M, Napierala JS Molecular Therapy Methods and Clinical Development 2024 Dec 32 Assessment of the Clinical Interactions of GAA Repeat Expansions in FGF14 and FXN Gerhart BJ, Pellerin D, Danzi MC, Zuchner S, Brais B, Matos-Rodrigues G, Nussenzweig A, Usdin K, Park CC, Napierala JS, Lynch DR, Napierala M Neurology: Genetics 2024 Nov 10 Generation of genetically modified Friedreich's ataxia induced pluripotent stem cell lines and isogenic control lines carrying an inducible neurogenin-2 expression cassette Miellet S, Maddock M, Napierala JS, Napierala M, Dottori M Stem Cell Research 2024 Sep 79 Erratum: Correction: Comparative multi-omic analyses of cardiac mitochondrial stress in three mouse models of frataxin deficiency (Disease models & mechanisms (2023) 16 10 PII: dmm050689) Sayles NM, Napierala JS, Anrather J, Diedhiou N, Li J, Napierala M, Puccio H, Manfredi G Disease models & mechanisms 2024 Jan 17 Comparative multi-omic analyses of cardiac mitochondrial stress in three mouse models of frataxin deficiency Sayles NM, Napierala JS, Anrather J, Diedhiou N, Li J, Napierala M, Puccio H, Manfredi G DMM Disease Models and Mechanisms 2023 Oct 16 Acute frataxin knockdown in induced pluripotent stem cell-derived cardiomyocytes activates a type I interferon response Cotticelli MG, Xia S, Truitt R, Doliba NM, Rozo AV, Tobias JW, Lee T, Chen J, Napierala JS, Napierala M, Yang W, Wilson RB DMM Disease Models and Mechanisms 2023 May 16 Neurobehavioral deficits of mice expressing a low level of G127V mutant frataxin Fil D, Conley RL, Zuberi AR, Lutz CM, Gemelli T, Napierala M, Napierala JS Neurobiology of Disease 2023 Feb 177 Premature transcription termination at the expanded GAA repeats and aberrant alternative polyadenylation contributes to the Frataxin transcriptional deficit in Friedreich's ataxia Li Y, Li J, Wang J, Zhang S, Giles K, Prakash TP, Rigo F, Napierala JS, Napierala M Human molecular genetics 2022 Oct 31 3539-3557 Skin fibroblast metabolomic profiling reveals that lipid dysfunction predicts the severity of Friedreich’s ataxia Wang D, Ho ES, Cotticelli MG, Xu P, Napierala JS, Hauser LA, Napierala M, Himes BE, Wilson RB, Lynch DR, Mesaros C Journal of lipid research 2022 Sep 63 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 Frontiers in Neuroscience 2022 Feb 16 Results 1-10 of 41 1 2 3 4 5 Next Last Honors & Awards 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 Professional Associations/Affiliations American Academy of Neurology (2016)
