Selected Publications

Academic Article

Year Title Altmetric
2019 Excision of the expanded GAA repeats corrects cardiomyopathy phenotypes of iPSC-derived Friedreich's ataxia cardiomyocytesStem Cell Research.  40. 2019
2018 Identification of Compounds That Decrease Glioblastoma Growth and Glucose Uptake in VitroACS Chemical Biology.  13:2048-2057. 2018
2017 Somatic instability of the expanded GAA repeats in Friedreich’s ataxiaPLoS ONE.  12. 2017
2017 Comprehensive analysis of gene expression patterns in Friedreich's ataxia fibroblasts by RNA sequencing reveals altered levels of protein synthesis factors and solute carriersDisease Models & Mechanisms.  10:1353-1369. 2017
2017 Selected missense mutations impair frataxin processing in Friedreich ataxiaAnnals of Clinical and Translational Neurology.  4:575-584. 2017
2016 Alleviating GAA Repeat Induced Transcriptional Silencing of the Friedreich's Ataxia Gene During Somatic Cell ReprogrammingJournal of Hematotherapy.  25:1788-1800. 2016
2016 New reasons to pursue the therapeutic potential of synthetic nucleic acids for neurological diseasesJAMA Neurology.  73:1175-1177. 2016
2016 Stalled DNA Replication Forks at the Endogenous GAA Repeats Drive Repeat Expansion in Friedreich's Ataxia CellsCell Reports.  16:1218-1227. 2016
2016 Establishment and Maintenance of Primary Fibroblast Repositories for Rare Diseases - Friedreich's Ataxia ExampleBiopreservation and Biobanking.  14:324-329. 2016
2016 Deep sequencing of mitochondrial genomes reveals increased mutation load in Friedreich’s ataxiaAnnals of Clinical and Translational Neurology.  523-536. 2016
2015 Excision of expanded GAA repeats alleviates the molecular phenotype of friedreich's ataxiaMolecular Therapy.  23:1055-1065. 2015
2015 Friedreich's ataxia – a case of aberrant transcription termination?Transcription.  6:33-36. 2015
2015 Expanded GAA repeats impede transcription elongation through the FXN gene and induce transcriptional silencing that is restricted to the FXN locusHuman Molecular Genetics.  24:6932-6943. 2015
2014 Small molecule kinase inhibitors alleviate different molecular features of myotonic dystrophy type 1RNA Biology.  11. 2014
2013 Expanded complexity of unstable repeat diseasesBioFactors.  39:164-175. 2013
2012 Understanding the genetic and molecular pathogenesis of Friedreich's ataxia through animal and cellular modelsDisease Models & Mechanisms.  5:165-176. 2012
2012 Selecting and isolating colonies of human induced pluripotent stem cells reprogrammed from adult fibroblastsJournal of Visualized Experiments2012
2011 Hyperexpansion of GAA repeats affects post-initiation steps of FXN transcription in Friedreich's ataxiaNucleic Acids Research.  39:8366-8377. 2011
2011 Mutant CAG repeats of Huntingtin transcript fold into hairpins, form nuclear foci and are targets for RNA interferenceNucleic Acids Research.  39:3852-3863. 2011
2010 Friedreich's ataxia induced pluripotent stem cells model intergenerational GAATTC triplet repeat instabilityCell Stem Cell.  7:631-637. 2010
2010 R loops stimulate genetic instability of CTG·CAG repeatsProceedings of the National Academy of Sciences.  107:692-697. 2010
2010 New insights into repeat instability: Role of RNA•DNA hybridsRNA Biology.  7:551-558. 2010
2008 Long intronic GAA•TTC repeats induce epigenetic changes and reporter gene silencing in a molecular model of Friedreich ataxiaNucleic Acids Research.  36:6056-6065. 2008
2007 CAG and CTG repeat polymorphism in exons of human genes shows distinct features at the expandable lociHuman 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 regionsJournal of Biological Chemistry.  281:24531-24543. 2006
2005 Increased negative superhelical density in vivo enhances the genetic instability of triplet repeat sequencesJournal of Biological Chemistry.  280:37366-37376. 2005
2005 Advances in mechanisms of genetic instability related to hereditary neurological diseasesNucleic Acids Research.  33:3785-3798. 2005
2005 Facile FMR1 mRNA structure regulation by interruptions in CGG repeatsNucleic 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 2Journal 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 GeneJournal of Biological Chemistry.  279:6444-6454. 2004
2003 Structures of trinucleotide repeats in human transcripts and their functional implicationsNucleic 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 geneJournal of Biological Chemistry.  277:39217-39227. 2002
2002 Sticky DNA: Effect of the polypurine·polypyrimidine sequenceJournal of Biological Chemistry.  277:39228-39234. 2002
2002 Long CTG·CAG repeat sequences markedly stimulate intramolecular recombinationJournal of Biological Chemistry.  277:34087-34100. 2002
2002 Long CTG·CAG repeats from myotonic dystrophy are preferred sites for intermolecular recombinationJournal of Biological Chemistry.  277:34074-34086. 2002
1997 CUG repeats present in myotonin kinase RNA form metastable 'slippery' hairpinsJournal of Biological Chemistry.  272:31079-31085. 1997
1997 Novel BRCA1 mutations and more frequent intron-20 alteration found among 236 women from Western PolandOncogene.  15:1773-1779. 1997
1996 PCR - SSCP - HDX analysis of pooled DNA for more rapid detection of germline mutations in large genes. The BRCA1 exampleNucleic 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

Principal Investigator On

  • Private Grant  awarded by PTC THERAPEUTICS, INC. 2019 - 2024
  • GAA Repeats Induced Epigenetic Silencing in Friedreich's Ataxia  awarded by National Institute of Neurological Disorders and Stroke/NIH/DHHS 2017 - 2022
  • Private Grant  awarded by CRISPR THERAPEUTICS AG 2017 - 2020
  • Friedreich's Ataxia Induced Pluripotent Stem Cells (iPSCs) Repository.  awarded by Friedreich's Ataxia Research Alliance 2019 - 2020
  • Private Grant  awarded by BIOMARIN PHARMACEUTICAL, INC. 2017 - 2020
  • New GAA Expansion Mouse for Efficacy Studies of Treatments for Friedreich Ataxia  awarded by National Institute of Neurological Disorders and Stroke/NIH/DHHS 2017 - 2020
  • Testing GAA Specific Oligos in FRDA Cell Lines  awarded by Friedreich's Ataxia Research Alliance 2018 - 2020
  • Oligonucleotide-Mediated Therapy of Friedreich’s Ataxia  awarded by Muscular Dystrophy Association 2016 - 2019
  • Isolation of Friedreich's Ataxia Fibroblast Cell Lines  awarded by CHILDREN'S HOSPITAL (PHILADELPHIA) 2013 - 2018
  • Defining The Molecular Signature of Friedreich's Ataxia to Identify Novel Biomarkers  awarded by Friedreich's Ataxia Research Alliance 2015 - 2018
  • Private Grant  awarded by RANA THERAPEUTICS 2014 - 2017
  • GAA Repeats Induced Epigenetic Silencing in Friedrich's Ataxia  awarded by National Institute of Neurological Disorders and Stroke/NIH/DHHS 2013 - 2017
  • Correction of the Friederich's Ataxia Gene Defect Using Zinc Finger Nucleases  awarded by Muscular Dystrophy Association 2013 - 2016
  • The Role of Mitochondrial DNA Mutations in Neuronal Degeneration in Friedreich's Ataxia  awarded by National Ataxia Foundation 2015
  • Education And Training

  • Doctor of Philosophy in Biochemistry, 1999
  • Full Name

  • Marek Napierala