Selected Publications

Academic Article

Year Title Altmetric
2020 Defining Transcription Regulatory Elements in the Human Frataxin Gene: Implications for Gene TherapyHuman Gene Therapy.  31:839-851. 2020
2020 Mitochondrial damage and senescence phenotype of cells derived from a novel frataxin G127V point mutation mouse model of Friedreich's ataxia 2020
2020 Progress towards drug discovery for Friedreich's Ataxia: Identifying synthetic oligonucleotides that more potently activate expression of human frataxin protein.Bioorganic and Medicinal Chemistry.  28:115472. 2020
2019 Progress in understanding Friedreich’s ataxia using human induced pluripotent stem cellsExpert Opinion on Orphan Drugs.  7:81-90. 2019
2019 The current state of biomarker research for Friedreich's ataxia: A report from the 2018 FARA biomarker meetingFuture Science OA.  5. 2019
2018 Identification of Compounds That Decrease Glioblastoma Growth and Glucose Uptake in VitroACS 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 2017
2017 Selected missense mutations impair frataxin processing in Friedreich ataxiaAnnals of Clinical and Translational Neurology.  4:575-584. 2017
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 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
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 models 2012
2010 Friedreich's ataxia induced pluripotent stem cells model intergenerational GAATTC triplet repeat instabilityCell Stem Cell.  7:631-637. 2010
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
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
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


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
  • Friedreich's Ataxia Induced Pluripotent Stem Cells (iPSCs) Repository.  awarded by Friedreich's Ataxia Research Alliance 2019 - 2021
  • Testing GAA Specific Oligos in FRDA Cell Lines  awarded by Friedreich's Ataxia Research Alliance 2018 - 2020
  • Private Grant  awarded by BIOMARIN PHARMACEUTICAL, INC. 2017 - 2020
  • Private Grant  awarded by CRISPR THERAPEUTICS AG 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
  • 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