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Pathogenic CANVAS (AAGGG)n repeats stall DNA replication due to the formation of alternative DNA structures.
Nucleic Acids Res. 2024 May 8;52(8):4361-4374. doi: 10.1093/nar/gkae124.
Nucleic Acids Res. 2024.
PMID: 38381906
Free PMC article.
Detection of alternative DNA structures and its implications for human disease.
Matos-Rodrigues G, Hisey JA, Nussenzweig A, Mirkin SM.
Matos-Rodrigues G, et al. Among authors: hisey ja.
Mol Cell. 2023 Oct 19;83(20):3622-3641. doi: 10.1016/j.molcel.2023.08.018.
Mol Cell. 2023.
PMID: 37863029
Review.
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Pathogenic CANVAS (AAGGG)n repeats stall DNA replication due to the formation of alternative DNA structures.
Hisey JA, Radchenko EA, Ceschi S, Rastokina A, Mandel NH, McGinty RJ, Matos-Rodrigues G, Hernandez A, Nussenzweig A, Mirkin SM.
Hisey JA, et al.
bioRxiv [Preprint]. 2023 Jul 26:2023.07.25.550509. doi: 10.1101/2023.07.25.550509.
bioRxiv. 2023.
PMID: 37546920
Free PMC article.
Updated.
Preprint.
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Replication-independent instability of Friedreich's ataxia GAA repeats during chronological aging.
Neil AJ, Hisey JA, Quasem I, McGinty RJ, Hitczenko M, Khristich AN, Mirkin SM.
Neil AJ, et al. Among authors: hisey ja.
Proc Natl Acad Sci U S A. 2021 Feb 2;118(5):e2013080118. doi: 10.1073/pnas.2013080118.
Proc Natl Acad Sci U S A. 2021.
PMID: 33495349
Free PMC article.
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A Defective mRNA Cleavage and Polyadenylation Complex Facilitates Expansions of Transcribed (GAA)n Repeats Associated with Friedreich's Ataxia.
McGinty RJ, Puleo F, Aksenova AY, Hisey JA, Shishkin AA, Pearson EL, Wang ET, Housman DE, Moore C, Mirkin SM.
McGinty RJ, et al. Among authors: hisey ja.
Cell Rep. 2017 Sep 5;20(10):2490-2500. doi: 10.1016/j.celrep.2017.08.051.
Cell Rep. 2017.
PMID: 28877480
Free PMC article.
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