Marek Napierala, Ph.D.

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).

Education:

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

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

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

Cellular pathophysiology of Friedreich's ataxia cardiomyopathy

Lees JG, Napierala M, Pébay A, Dottori M, Lim SY International Journal of Cardiology 2022 Jan 346 71-78

Difficulties translating antisense-mediated activation of Frataxin expression from cell culture to mice

Kilikevicius A, Wang J, Shen X, Rigo F, Prakash TP, Napierala M, Corey DR RNA Biology 2022 19 364-372

• Friedreich's Ataxia Research Alliance (FARA) (2017)