Publication: Large-scale expansions of Friedreich's ataxia GAA•TTC repeats in an experimental human system: role of DNA replication and prevention by LNA-DNA oligonucleotides and PNA oligomers
Large-scale expansions of Friedreich's ataxia GAA•TTC repeats in an experimental human system: role of DNA replication and prevention by LNA-DNA oligonucleotides and PNA oligomers
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Rastokina, A., Cebrián, J., Mozafari, N., Mandel, N. H., Smith, C. I. E., Lopes, M., Zain, R., & Mirkin, S. M. (2023). Large-scale expansions of Friedreich’s ataxia GAA•TTC repeats in an experimental human system: role of DNA replication and prevention by LNA-DNA oligonucleotides and PNA oligomers. Nucleic Acids Research, 51(16), 8532–8549. https://doi.org/10.1093/nar/gkad441
Abstract
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Abstract
Friedreich's ataxia (FRDA) is caused by expansions of GAA•TTC repeats in the first intron of the human FXN gene that occur during both intergenerational transmissions and in somatic cells. Here we describe an experimental system to analyze large-scale repeat expansions in cultured human cells. It employs a shuttle plasmid that can replicate from the SV40 origin in human cells or be stably maintained in S. cerevisiae utilizing ARS4-CEN6. It also contains a selectable cassette allowing us to detect repeat expansions that accumulated in
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- Rastokina, Anastasia
- Cebrián, Jorge
- Mozafari, Negin
- Mandel, Nicholas H
- Smith, C I Edvard
- Lopes, Massimo
- Zain, Rula
- Mirkin, Sergei M
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Citations
Rastokina, A., Cebrián, J., Mozafari, N., Mandel, N. H., Smith, C. I. E., Lopes, M., Zain, R., & Mirkin, S. M. (2023). Large-scale expansions of Friedreich’s ataxia GAA•TTC repeats in an experimental human system: role of DNA replication and prevention by LNA-DNA oligonucleotides and PNA oligomers. Nucleic Acids Research, 51(16), 8532–8549. https://doi.org/10.1093/nar/gkad441
