Advances in mechanisms of genetic instability related to hereditary neurological diseases RD Wells, R Dere, ML Hebert, M Napierala, LS Son Nucleic acids research 33 (12), 3785-3798, 2005 | 264 | 2005 |
Friedreich's ataxia induced pluripotent stem cells model intergenerational GAA⋅ TTC triplet repeat instability S Ku, E Soragni, E Campau, EA Thomas, G Altun, LC Laurent, JF Loring, ... Cell stem cell 7 (5), 631-637, 2010 | 241 | 2010 |
Mutant CAG repeats of Huntingtin transcript fold into hairpins, form nuclear foci and are targets for RNA interference M De Mezer, M Wojciechowska, M Napierala, K Sobczak, WJ Krzyzosiak Nucleic acids research 39 (9), 3852-3863, 2011 | 221 | 2011 |
R loops stimulate genetic instability of CTG· CAG repeats Y Lin, SYR Dent, JH Wilson, RD Wells, M Napierala Proceedings of the National Academy of Sciences 107 (2), 692-697, 2010 | 221 | 2010 |
CUG repeats present in myotonin kinase RNA form metastable “slippery” hairpins M Napierala, WJ Krzyzosiak Journal of Biological Chemistry 272 (49), 31079-31085, 1997 | 203 | 1997 |
DNA triplet repeat expansion and mismatch repair RR Iyer, A Pluciennik, M Napierala, RD Wells Annual review of biochemistry 84 (1), 199-226, 2015 | 134 | 2015 |
Excision of expanded GAA repeats alleviates the molecular phenotype of Friedreich's ataxia Y Li, U Polak, AD Bhalla, N Rozwadowska, JS Butler, DR Lynch, ... Molecular Therapy 23 (6), 1055-1065, 2015 | 99 | 2015 |
Long intronic GAA• TTC repeats induce epigenetic changes and reporter gene silencing in a molecular model of Friedreich ataxia E Soragni, D Herman, SYR Dent, JM Gottesfeld, RD Wells, M Napierala Nucleic acids research 36 (19), 6056-6065, 2008 | 97 | 2008 |
Structures of trinucleotide repeats in human transcripts and their functional implications A Jasinska, G Michlewski, M de Mezer, K Sobczak, P Kozlowski, ... Nucleic acids research 31 (19), 5463-5468, 2003 | 91 | 2003 |
Hyperexpansion of GAA repeats affects post-initiation steps of FXN transcription in Friedreich’s ataxia E Kim, M Napierala, SYR Dent Nucleic acids research 39 (19), 8366-8377, 2011 | 89 | 2011 |
Facile FMR1 mRNA structure regulation by interruptions in CGG repeats M Napierala, D Michalowski, M de Mezer, WJ Krzyzosiak Nucleic acids research 33 (2), 451-463, 2005 | 89 | 2005 |
Understanding the genetic and molecular pathogenesis of Friedreich’s ataxia through animal and cellular models A Martelli, M Napierala, H Puccio Disease models & mechanisms 5 (2), 165-176, 2012 | 87 | 2012 |
Sticky DNA, a long GAA· GAA· TTC triplex that is formed intramolecularly, in the sequence of intron 1 of the frataxin gene AA Vetcher, M Napierala, RR Iyer, PD Chastain, JD Griffith, RD Wells Journal of Biological Chemistry 277 (42), 39217-39227, 2002 | 86 | 2002 |
Expanded GAA repeats impede transcription elongation through the FXN gene and induce transcriptional silencing that is restricted to the FXN locus Y Li, Y Lu, U Polak, K Lin, J Shen, J Farmer, L Seyer, AD Bhalla, ... Human molecular genetics 24 (24), 6932-6943, 2015 | 80 | 2015 |
Hairpin structure-forming propensity of the (CCTG· CAGG) tetranucleotide repeats contributes to the genetic instability associated with myotonic dystrophy type 2 R Dere, M Napierala, LPW Ranum, RD Wells Journal of Biological Chemistry 279 (40), 41715-41726, 2004 | 80 | 2004 |
Structure-dependent recombination hot spot activity of GAA· TTC sequences from intron 1 of the Friedreich's ataxia gene M Napierala, R Dere, A Vetcher, RD Wells Journal of Biological Chemistry 279 (8), 6444-6454, 2004 | 77 | 2004 |
Somatic instability of the expanded GAA repeats in Friedreich’s ataxia A Long, JS Napierala, U Polak, L Hauser, AH Koeppen, DR Lynch, ... PLoS one 12 (12), e0189990, 2017 | 74 | 2017 |
Long CTG· CAG repeat sequences markedly stimulate intramolecular recombination M Napierala, P Parniewski, A Pluciennik, RD Wells Journal of Biological Chemistry 277 (37), 34087-34100, 2002 | 74 | 2002 |
Increased negative superhelical density in vivo enhances the genetic instability of triplet repeat sequences M Napierala, A Bacolla, RD Wells Journal of Biological Chemistry 280 (45), 37366-37376, 2005 | 62 | 2005 |
New insights into repeat instability: role of RNA• DNA hybrids EI McIvor, U Polak, M Napierala RNA biology 7 (5), 551-558, 2010 | 60 | 2010 |