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.
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).
M.S. in Biotechnology; Adam Mickiewicz University, Poznan, Poland
Ph.D. in Biochemistry, Institute of Bioorganic Chemistry Polish Academy of Sciences, Poznan, Poland
- Chromatin and transcription regulation
- Friedreich's ataxia
- Mechanisms of repeat instability
- Modeling neurodegenerative diseases using induced pluripotent stem cells (iPSCs)
- Repeat expansion diseases
- 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, Mol Cell 2022 Aug
- 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, Hum Mol Genet 2022 Jun
- 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
- 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
- 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
- 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
- Excision of the expanded GAA repeats corrects cardiomyopathy phenotypes of iPSC-derived Friedreich's ataxia cardiomyocytes.
- Li J, Rozwadowska N, Clark A, Fil D, Napierala JS, Napierala M, Stem Cell Res 2019 10 40 101529
- Therapeutic Prospects for Friedreich's Ataxia.
- Zhang S, Napierala M, Napierala JS, Trends Pharmacol Sci 2019 04 40 4 229-233
- 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
- Expanded GAA repeats impede transcription elongation through the FXN gene and induce transcriptional silencing that is restricted to the FXN locus.
- Li Y, Lu Y, Polak U, Lin K, Shen J, Farmer J, Seyer L, Bhalla AD, Rozwadowska N, Lynch DR, Butler JS, Napierala M, Hum Mol Genet 2015 Dec 24 24 6932-43
- Friedreich's Ataxia Research Alliance (FARA) (2017)