Marek Napierala, Ph.D. Titles and Appointments Professor School Medical School Department Neurology | Peter O'Donnell Jr. Brain Institute Graduate Programs Neuroscience Biography Joined UT Southwestern: 2022 Research: Dr. Napierala has more than 25 years of experience studying molecular mechanisms associated with human diseases caused by the expansion of repeat sequences. Work in his group is focused predominantly on pathogenic GAA repeat sequences expanded in Friedreich’s ataxia (FRDA). His laboratory is interested in basic questions related to molecular mechanisms of FRDA as well as in the development of therapeutic strategies for this disease with a long-term research goal of uncovering pathways that are involved in the pathogenesis of FRDA. The Napierala lab utilizes both cellular (induced pluripotent stem cell-derived) and mouse models of this disease. Dr. Napierala established the Friedreich’s Ataxia Cell Line Repository, the world’s largest bank of primary FRDA fibroblasts and induced pluripotent stem cell lines that currently holds more than 100 lines derived from different FRDA patients. Dr. Napierala is involved in the FRDA patient community. His laboratory hosts yearly meetings with FRDA patients and their caregivers and participates in rideATAXIA events. He is also a member of the Scientific Advisory Board of Friedreich’s Ataxia Research Alliance (FARA). Background: Dr. Marek Napierala obtained his Ph.D. degree in 1999 from the Institute of Bioorganic Chemistry, Polish Academy of Sciences in Poznan, Poland. His dissertation was focused on RNA structure of trinucleotide repeat sequences mutated in repeat expansion diseases. He continued his interest in repeat sequences during postdoctoral studies at the Center for Genome Research, Institute of Biosciences and Technology at Texas A&M University in Houston, Texas and subsequently as a research faculty member of the Department of Biochemistry at University of Texas MD Anderson Cancer Center. In 2013 he joined the full-time faculty at the Department of Biochemistry and Molecular Genetics, University of Alabama at Birmingham. In 2017 he was promoted to the rank of associate professor. Dr. Napierala moved his research program to University of Texas Southwestern Medical Center in Dallas in 2022. He is a faculty member of the Department of Neurology and Peter O’Donnell Junior Brain Institute. Education: M.S. in Biotechnology; Adam Mickiewicz University, Poznan, Poland Ph.D. in Biochemistry, Institute of Bioorganic Chemistry Polish Academy of Sciences, Poznan, Poland Research Interest Chromatin and transcription regulation Friedreich's ataxia Mechanisms of repeat instability Modeling neurodegenerative diseases using induced pluripotent stem cells (iPSCs) Repeat expansion diseases 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 A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus Author Collaboration Ao, Pellerin D, Del Gobbo GF, Couse M, Dolzhenko E, Nageshwaran SK, Cheung WA, Xu IR, Dicaire MJ, Spurdens G, Matos-Rodrigues G, Stevanovski I, Scriba CK, Rebelo A, Roth V, Wandzel M, Bonnet C, Ashton C, Agarwal A, Peter C, Hasson D, Tsankova NM, Dewar K, Lamont PJ, Laing NG, Renaud M, Houlden H, Synofzik M, Usdin K, Nussenzweig A, Napierala M, Chen Z, Jiang H, Deveson IW, Ravenscroft G, Akbarian S, Eberle MA, Boycott KM, Pastinen T, Brais B, Zuchner S, Danzi MC, Bateman E, Berngruber C, Cunial F, Davis CP, Dinh H, Doddapaneni H, Doheny K, Dugan-Perez S, Dutka T Nature genetics 2024 Jul 56 1366-1370 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 S1-END-seq reveals DNA secondary structures in human cells Matos-Rodrigues G, van Wietmarschen N, Wu W, Tripathi V, Koussa NC, Pavani R, Nathan WJ, Callen E, Belinky F, Mohammed A, Napierala M, Usdin K, Ansari AZ, Mirkin SM, Nussenzweig A Molecular cell 2022 Oct 82 3538-3552.e5 Results 1-10 of 69 1 2 3 4 5 Next Last Professional Associations/Affiliations Friedreich's Ataxia Research Alliance (FARA) (2017)
