Mukherjee, S., Pereboeva, L., Fil, D., Saikia, A., Lee, J., Li, J., Cotticelli, G.M., Soragni, E., Wilson, R.B., Napierala, M., and Napierala, J.S. Design and validation of cell-based potency assays for frataxin supplementation treatments. Mol Ther Methods Clin Dev. 2024 Dec 12; 32(4) doi: 10.1016/j.omtm.2024.101347.
Gerhart, B.J., Pellerin, D., Danzi, M.C., Zuchner, S., Brais, B., Matos-Rodrigues, G., Nussenzweig, A., Usdin, K., Park, C.C., Napierala, J.S., Lynch, D.R., and Napierala, M. Assessment of the clinical interactions of GAA repeat expansions in FGF14 and FXN. Neurol Genet. 2024 Nov 20;10(6):e200210. doi: 10.1212/NXG.0000000000200210. eCollection 2024 Dec. PMID: 39574782.
Pellerin, D., Méreaux, J.L., Boluda, S., Danzi, M.C., Dicaire, M.J., Davoine, C.S., Genis, D., Spurdens, G., Ashton, C., Hammond, J.M., Gerhart, B.J., Chelban, V., Le, P.U., Safisamghabadi, M., Yanick, C., Lee, H., Nageshwaran, S.K., Matos-Rodrigues, G., Jaunmuktane, Z., Petrecca, K., Akbarian, S., Nussenzweig, A., Usdin, K., Renaud, M., Bonnet, C., Ravenscroft, G., Saporta, M.A., Napierala, J.S., Houlden, H., Deveson, I.W., Napierala, M., Brice, A., Porcel, L.M., Seilhean, D., Zuchner, S., Durr, A., and Brais, B. Somatic instability of the FGF14-SCA27B GAA•TTC repeat reveals a marked expansion bias in the cerebellum. Brain. 2024 Oct 8:awae312. doi: 10.1093/brain/awae312. PMID: 39378335.
Miellet, S., Maddock, M., Napierala, J.S., Napierala, M., and Dottori, M. Generation of genetically modified Friedreich's ataxia induced pluripotent stem cell lines and isogenic control lines carrying an inducible neurogenin-2 expression cassette. Stem Cell Res. 2024 Sep:79:103477. doi: 10.1016/j.scr.2024.103477. Epub 2024 Jun 21. PMID: 38936158.
Pellerin, D., Del Gobbo, G.F., Couse, M., Dolzhenko, E., Nageshwaran, S.K., Cheung, W.A., Xu, I.R.L., Dicaire, M.J., Spurdens, G., Matos-Rodrigues, G., Stevanovski, I., Scriba, C.K., Rebelo, A., Roth, V., Wandzel, M., Bonnet, C., Ashton, C., Agarwal, A., Peter, C., Hasson, D., Tsankova, N.M., Dewar, K., Lamont, P.J., Laing, N.G., Renaud, M., Houlden, H., Synofzik, M., Usdin, K., Nussenzweig, A., Napierala, M., Chen, Z., Jiang, H., Deveson, I.W., Ravenscroft, G., Akbarian, S., Eberle, M.A., Boycott, K.M., Pastinen, T.; All of Us Research Program Long Read Working Group; Brais, B., Zuchner, S., and Danzi, M.C. A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus. Nat Genet. 2024 Jul;56(7):1366-1370. doi: 10.1038/s41588-024-01808-5. Epub 2024 Jun 27. PMID: 38937606.
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., and 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):dmm049497. doi: 10.1242/dmm.049497. Epub 2022 Oct 26. PMID: 36107856.
Fil, D., Conley, R.L., Zuberi, A.R., Lutz, C.M., Gemelli, T., Napierala, M., and Napierala, J.S. Neurobehavioral deficits of mice expressing a low level of G127V mutant frataxin. Neurobiol Dis. 2023 Feb:177:105996. doi: 10.1016/j.nbd.2023.105996. Epub 2023 Jan 10. PMID: 36638893.
Li, Y., Li, J., Wang, J., Zhang, S., Giles, K., Prakash, T.P., Rigo, F., Napierala, J.S., and 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. doi: 10.1093/hmg/ddac134. PMID: 35708503.
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., and Nussenzweig, A. S1-END-seq reveals DNA secondary structures in human cells. Mol Cell. 2022 Oct 6;82(19):3538-3552.e5. doi: 10.1016/j.molcel.2022.08.007. Epub 2022 Sep 7. PMID: 36075220.
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., and Mesaros, C. Skin fibroblast metabolomic profiling reveals that lipid dysfunction predicts the severity of Friedreich's ataxia. J Lipid Res. 2022 Sep;63(9):100255. doi: 10.1016/j.jlr.2022.100255. Epub 2022 Jul 16. PMID: 35850241.
Kilikevicius, A., Wang, J., Shen, X., Rigo, F., Prakash, T.P., Napierala, M., and Corey, D.R. Difficulties translating antisense-mediated activation of Frataxin expression from cell culture to mice. RNA Biol. 2022;19(1):364-372. doi: 10.1080/15476286.2022.2043650. Epub 2021 Dec 31. 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., and Napierala, M. Targeting 3’ and 5’ untranslated regions with antisense oligonucelotides to stabilize frataxin mRNA and increase protein expression. Nucleic Acids Res. 2021 Nov 18;49(20):11560-11574. doi: 10.1093/nar/gkab954. 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., and Napierala, M. Reverse phase protein array reveals correlation of retinoic acid metabolism with cardiomyopathy in Friedreich’s ataxia. Mol Cell Proteomics. 2021:20:100094. doi: 10.1016/j.mcpro.2021.100094. Epub 2021 May 13. PMID: 33991687.
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. Hum Gene Ther. 2020 Aug;31(15-16):839-851. doi: 10.1089/hum.2020.053. Epub 2020 Jul 13. PMID: 32527155.
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. Dis Model Mech. 2020 Jul 27;13(7):dmm045229. doi: 10.1242/dmm.045229. PMID: 32586831.
Li, J., Rozwadowska, N., Clark, A., Fil, D., Napierala, J.S., and Napierala, M. Excision of the expanded GAA repeats corrects cardiomyopathy phenotypes of iPSC-derived Friedreich’s ataxia cardiomyocytes. Stem Cell Res. 2019 Oct:40:101529. doi: 10.1016/j.scr.2019.101529. Epub 2019 Aug 7. PMID: 31446150.
Napierala, J.S., Li, Y., Lu, Y., Lin, K., Hauser, L.A., Lynch, D.R., and 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. Dis Model Mech. 2017 Nov 1;10(11):1353-1369. doi: 10.1242/dmm.030536. PMID: 29125828.
Butler, J.S. and Napierala, M. New reASOns to pursue the therapeutic potential of synthetic nucleic acids for neurological diseases. JAMA Neurol. 2016 Oct 1;73(10):1175-1177. doi: 10.1001/jamaneurol.2016.2571. PMID: 27479734.
Li, Y., Polak, U., Clark, A.D., Bhalla, A.D., Chen, Y.Y., Li, J., Farmer, J., Seyer, L., Lynch, D., Butler, J.S., and Napierala, M. Establishment and maintenance of primary fibroblast repositories for rare diseases-Friedreich’s ataxia example. Biopreserv Biobank. 2016 Aug;14(4):324-9. doi: 10.1089/bio.2015.0117. Epub 2016 Mar 22. PMID: 27002638.
Gerhardt, J., Bhalla, A., Butler, J.S., Puckett, J., Dervan, P., Rosenwaks, Z., and Napierala, M. Stalled DNA replication forks at the endogenous GAA repeats drive repeat expansion in Friedreich’s ataxia cells. Cell Rep. 2016 Aug 2;16(5):1218-1227. doi: 10.1016/j.celrep.2016.06.075. Epub 2016 Jul 14. PMID: 27425605.
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. Hum Mol Genet. 2015 Dec 15;24(24):6932-43. doi: 10.1093/hmg/ddv397. Epub 2015 Sep 23. 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. Mol. Ther. 2015 Jun;23(6):1055-1065. doi: 10.1038/mt.2015.41. Epub 2015 Mar 11. PMID: 25758173.