Selected Publications

Matos-Rodrigues, G., van Wietmarschen, N., Wu, W., Tripathi, V., Koussa, N.C., Pavani, R., Nathan, W.J., Callen, E., Belinky, F., Mohammed, A., Napierala, M., Usdin, K., Ansari, A.Z., Mirkin, S.M., Nussenzweig, A. “S1-END-seq reveals DNA secondary structures in human cells” Mol Cell 2022 Oct 6;82(19):3538-3552. PMID: 36075220.

Cotticelli, M.G., Xia, S., Truitt, R., Doliba, N.M., Rozo, A.V., Tobias, J.W., Lee, T., Chen, J., Napierala, J.S., Napierala, M., Yang, W., Wilson, R.B. “Activation of a type I interferon response associated with acute frataxin knockdown in iPSC-derived cardiomyocytes” Dis Model Mech. 2023 May 1;16(5). PMID: 36107856.

Wang, D., Ho, E.S., Cotticelli, M.G., Xu, P., Napierala, J.S., Hauser, L.A., Napierala, M., Himes, B.E., Wilson, R.B., Lynch, D.R., Mesaros, C. “Skin fibroblast metabolomic profiling reveals that lipid dysfunction predicts the severity of Friedreich's ataxia. J Lipid Res. 2022 Sept 63(9):100255. PMID: 35850241.

Li, Y., Li, J., Wang, J., Zhang, S., Giles, K., Prakash, T.P., Rigo, F., Napierala, J.S., Napierala, M. “Premature transcription termination at the expanded GAA repeats and aberrant alternative polyadenylation contributes to the Frataxin transcriptional deficit in Friedreich's ataxia” Hum Mol Genet. 2022 Oct 10;31(20):3539-3557. PMID: 35708503.

Kilikevicius, A., Wang, J., Shen, X., Rigo, F., Prakash, T.P., Napierala, M., Corey, D.R. Difficulties translating antisense-mediated activation of Frataxin expression from cell culture to mice RNA Biology 2022 Jan;19(1):364-372; PMID: 35289725

Li, Y., Li, J., Wang, J., Lynch, D.R., Shen, X., Corey, D.R., Parekh, D., Bhat, B., Woo, C., Cherry, J.J., Napierala, J.S., Napierala, M. Targeting 3’ and 5’ untranslated regions with antisense oligonucelotides to stabilize frataxin mRNA and increase protein expression Nucleic Acids Research 2021 Nov 18;49: 11560-11574; PMID: 34718736

Napierala, J.S., Rajapakshe, K., Clark, A.D., Chen, Y-Y., Huang, S., Mesaros, C., Xu, P., Blair, I.A., Hauser, L.A., Farmer, J., Lynch, D.R., Edwards, D.P., Coarfa, C., Napierala, M. Reverse phase protein array reveals correlation of retinoic acid metabolism with cardiomyopathy in Friedreich’s ataxia Molecular and Cellular Proteomics 2021;20:100094; PMID: 33991687

Fil, D., Chacko, B.K., Conley R., Ouyang, X., Zhang, J., Darley-Usmar, V.M., Zuberi, A.R., Lutz, C.M., Napierala, M., and Napierala J.S. Mitochondrial damage and senescence phenotype of cells derived from a novel frataxin G127V point mutation mouse model of Friedreich’s ataxia. Disease Models and Mechanisms 2020 Jul:27;13(7). PMID: 3258683.

Li, J., Li, Y. Wang, J., Gonzalez, T.J., Asokan, A., Napierala, J.S. and Napierala, M. Defining transcription regulatory elements in the human frataxin gene: implications for gene therapy. Human Gene Therapy 2020 Aug;31(15-16):839-851. PMID: 32527155.

Li J., Rozwadowska N., Clark A., Fil D., Napierala J.S., Napierala M. Excision of the expanded GAA repeats corrects cardiomyopathy phenotypes of iPSC-derived Friedreich’s ataxia cardiomyocytes. Stem Cell Research 2019 Oct;40:101529. PMID: 31446150.

Napierala, J. S., Li, Y., Lu, Y., Lin, K., Hauser, L. A., Lynch, D. R., Napierala, M. Comprehensive analysis of gene expression patterns in Friedreich’s ataxia fibroblasts by RNA sequencing reveals altered levels of protein synthesis factors and solute carriers Disease Models and Mechanisms 2017 Nov1;10(11):1353-69. PMID: 29125828.

Gerhardt, J., Bhalla, A., Butler, J.S., Puckett, J., Dervan, P., Rosenwaks, Z., Napierala, M. Stalled DNA replication forks at the endogenous GAA repeats drive repeat expansion in Friedreich’s ataxia cells Cell Reports 2016 2;16(5):1218-27. PMID: 27425605.

Li, Y., Polak, U., Clark, A.D., Bhalla, A.D., Chen, Y.Y., Li, J., Farmer, J., Seyer, L., Lynch, D., Butler, J.S., Napierala, M. Establishment and Maintenance of Primary Fibroblast Repositories for Rare Diseases-Friedreich’s Ataxia Example Biopreservation and Biobanking 2016, Aug;14(4):324-9. PMID: 27002638.

Butler, J.S. and Napierala, M. New reASOns to pursue the therapeutic potential of synthetic nucleic acids for neurological diseases JAMA Neurology; accepted for publication 2016, 73(10):1175-1177.

Li, Y., Lu, Y, Polak, U., Lin, K., Shen, J.J., Farmer, J., Seyer, L., Bhalla, A., Rozwadowska, N., Lynch, D.R., Butler J.S. and Napierala, M. Expanded GAA repeats impede transcription elongation through the FXN gene and induce transcriptional silencing that is restricted to the FXN locus Human Molecular Genetics 2015, 15;24(24):6932-4. PMID: 26401053.

Li, Y., Polak, U., Bhalla, A., Rozwadowska, N., Butler, J.S., Lynch, D.R., Dent, S.Y.R., and Napierala, M Excision of expanded GAA repeats alleviates the molecular phenotype of Friedreich’s ataxia Molecular Therapy 2015, 23(6):1055-65. PMID: 25758173.