Selected Publications

Academic Article

Year Title Altmetric
2018 Identification of Compounds That Decrease Glioblastoma Growth and Glucose Uptake in Vitro.ACS Chemical Biology.  13:2048-2057. 2018
2017 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 & Mechanisms.  10:1353-1369. 2017
2017 Selected missense mutations impair frataxin processing in Friedreich ataxia.Annals of Clinical and Translational Neurology.  4:575-584. 2017
2017 Somatic instability of the expanded GAA repeats in Friedreich's ataxia.PLoS ONE.  12:e0189990. 2017
2016 Alleviating GAA Repeat Induced Transcriptional Silencing of the Friedreich's Ataxia Gene During Somatic Cell Reprogramming.Journal of Hematotherapy.  25:1788-1800. 2016
2016 New Reasons to Pursue the Therapeutic Potential of Synthetic Nucleic Acids for Neurological Diseases.JAMA Neurology.  73:1175-1177. 2016
2016 Stalled DNA Replication Forks at the Endogenous GAA Repeats Drive Repeat Expansion in Friedreich's Ataxia Cells.Cell Reports.  16:1218-1227. 2016
2016 Establishment and Maintenance of Primary Fibroblast Repositories for Rare Diseases-Friedreich's Ataxia Example.Biopreservation and Biobanking.  14:324-329. 2016
2016 Deep sequencing of mitochondrial genomes reveals increased mutation load in Friedreich's ataxia.Annals of Clinical and Translational Neurology.  3:523-536. 2016
2015 Expanded GAA repeats impede transcription elongation through the FXN gene and induce transcriptional silencing that is restricted to the FXN locus.Human Molecular Genetics.  24:6932-6943. 2015
2015 Excision of Expanded GAA Repeats Alleviates the Molecular Phenotype of Friedreich's Ataxia.Molecular Therapy.  23:1055-1065. 2015
2015 Friedreich's ataxia--a case of aberrant transcription termination?Transcription.  6:33-36. 2015
2014 Small molecule kinase inhibitors alleviate different molecular features of myotonic dystrophy type 1.RNA Biology.  11:742-754. 2014
2013 Expanded complexity of unstable repeat diseases.BioFactors.  39:164-175. 2013
2012 Understanding the genetic and molecular pathogenesis of Friedreich's ataxia through animal and cellular models.Disease Models & Mechanisms.  5:165-176. 2012
2012 Selecting and isolating colonies of human induced pluripotent stem cells reprogrammed from adult fibroblasts.Journal of Visualized Experiments2012
2011 Hyperexpansion of GAA repeats affects post-initiation steps of FXN transcription in Friedreich's ataxia.Nucleic Acids Research.  39:8366-8377. 2011
2011 Mutant CAG repeats of Huntingtin transcript fold into hairpins, form nuclear foci and are targets for RNA interference.Nucleic Acids Research.  39:3852-3863. 2011
2010 Friedreich's ataxia induced pluripotent stem cells model intergenerational GAA⋅TTC triplet repeat instability.Cell Stem Cell.  7:631-637. 2010
2010 New insights into repeat instability: role of RNA•DNA hybrids.RNA Biology.  7:551-558. 2010
2010 R loops stimulate genetic instability of CTG.CAG repeats.Proceedings of the National Academy of Sciences.  107:692-697. 2010
2008 Long intronic GAA*TTC repeats induce epigenetic changes and reporter gene silencing in a molecular model of Friedreich ataxia.Nucleic Acids Research.  36:6056-6065. 2008
2007 CAG and CTG repeat polymorphism in exons of human genes shows distinct features at the expandable loci.Human Mutation.  28:451-458. 2007
2006 Non-B DNA conformations formed by long repeating tracts of myotonic dystrophy type 1, myotonic dystrophy type 2, and Friedreich's ataxia genes, not the sequences per se, promote mutagenesis in flanking regions.Journal of Biological Chemistry.  281:24531-24543. 2006
2005 Increased negative superhelical density in vivo enhances the genetic instability of triplet repeat sequences.Journal of Biological Chemistry.  280:37366-37376. 2005
2005 Advances in mechanisms of genetic instability related to hereditary neurological diseases.Nucleic Acids Research.  33:3785-3798. 2005
2005 Facile FMR1 mRNA structure regulation by interruptions in CGG repeats.Nucleic Acids Research.  33:451-463. 2005
2004 Hairpin structure-forming propensity of the (CCTG.CAGG) tetranucleotide repeats contributes to the genetic instability associated with myotonic dystrophy type 2.Journal of Biological Chemistry.  279:41715-41726. 2004
2004 Structure-dependent recombination hot spot activity of GAA.TTC sequences from intron 1 of the Friedreich's ataxia gene.Journal of Biological Chemistry.  279:6444-6454. 2004
2003 Structures of trinucleotide repeats in human transcripts and their functional implications.Nucleic Acids Research.  31:5463-5468. 2003
2002 Sticky DNA, a long GAA.GAA.TTC triplex that is formed intramolecularly, in the sequence of intron 1 of the frataxin gene.Journal of Biological Chemistry.  277:39217-39227. 2002
2002 Sticky DNA: effect of the polypurine.polypyrimidine sequence.Journal of Biological Chemistry.  277:39228-39234. 2002
2002 Long CTG.CAG repeat sequences markedly stimulate intramolecular recombination.Journal of Biological Chemistry.  277:34087-34100. 2002
2002 Long CTG.CAG repeats from myotonic dystrophy are preferred sites for intermolecular recombination.Journal of Biological Chemistry.  277:34074-34086. 2002
1997 CUG repeats present in myotonin kinase RNA form metastable "slippery" hairpins.Journal of Biological Chemistry.  272:31079-31085. 1997
1997 Novel BRCA1 mutations and more frequent intron-20 alteration found among 236 women from Western Poland.Oncogene.  15:1773-1779. 1997
1996 PCR-SSCP-HDX analysis of pooled DNA for more rapid detection of germline mutations in large genes. The BRCA1 example.Nucleic Acids Research.  24:1177-1178. 1996


Year Title Altmetric
2015 DNA triplet repeat expansion and mismatch repair..  Ed. 84.  2015


Year Title Altmetric
2008 Toxic RNA in pathogenesis of human neuromuscular disorders.  325-353. 2008
2006 Involvement of genetic recombination in microsatellite instability.  597-615. 2006
2006 Structural characteristics of trinucleotide repeats in transcripts.  705-713. 2006

Education And Training

  • Doctor of Philosophy in Biochemistry, Institution Not Available in List
  • Full Name

  • Marek Napierala
  • Blazerid

  • mnapiera