Department of Molecular Biomedicine


 Prof.  Włodzimierz Krzyżosiak

Memories of Professor W.Krzyżosiak

acting Head:

Prof. Agnieszka Fiszer





Dr. Adam Ciesiołka,

Dr. Magdalena Jazurek-Ciesiołka,

Dr. Emilia Kozłowska,

Dr. Julia Misiorek,

Prof. Marek Napierała,

Dr. Paweł Świtoński - Departments of Neurology, Neurobiology, and Cell Biology; Duke Center for Neurodegeneration and Neurotherapeutics; Duke University School of Medicine, Durham, USA

Dr. Magdalena Woźna-Wysocka,

Teresa Dymarek-Babś MSc,

Paula Sobieszczańska MSc


PhD Students:

Agata Ciołak MSc,

Paweł Joachimiak MSc


 Scheme 1












Key words

triplet repeat expansion diseases, pathogenesis of polyglutamine diseases, RNA and protein toxicity, experimental treatment, RNA interference technology, microRNA biogenesis and function, cellular models, mouse models, iPSC technology.

Research area

Research performed in our Department has been focusing on trinucleotide repeats sequences and their expansion related to human neurological diseases. This group of diseases includes: myotonic dystrophy type 1 (DM1), Friedreich’s ataxia (FRDA) and polyglutamine (polyQ) diseases: Huntington’s disease and several spinocerebellar ataxias. Main research topics carried out in our Department are:

  • screening for RNA and protein toxicity markers in polyQ diseases,
  • establishment and characteristics of new cellular and mouse models for polyQ diseases,
  • investigation of proteins interaction with trinucleotide repeats tracts present in RNA,
  • testing of therapeutic strategies targeting CAG repeats regions in neuronal cells and mouse models,
  • investigation of non-canonical translation at CAG repeats,
  • unravelling mechanisms responsible for siRNA and miRNA silencing of gene expression,
  • evaluation of the miRNA role in pathogenesis of diseases caused by repeat expansion.


Ongoing research projects:

  • Mechanisms underlying the targeting of coding sequence repeats by microRNA-like inhibitors (NCN, OPUS)
  • Identification of CAG repeat-binding proteins and imaging RNA-protein interactions in cells (NCN, OPUS)
  • The role of microRNA in iron metabolism of Friedreich's ataxia (NCN, OPUS)
  • RNA toxicity in pathogenesis of polyglutamine diseases (NCN, MAESTRO)
  • Comprehensive analysis of the therapeutic potential of oligonucleotides for the treatment of polyglutamine diseases (NCN, SONATA)
  • RAN translation at CAG repeats in spinocerebellar ataxia type 3 (NCN, SONATA)
  • MicroRNA profiling in cellular models of Huntington’s disease generated using iPSC technology (NCN, PRELUDIUM)


Selected publications from the last three years:

Schreiber AM, Misiorek J, Napierala JS, Napierala M.
Progress in understanding Friedreich’s ataxia using human induced pluripotent stem cells.
Expert Opin Orphan Drugs. 7(2):81-90 (2019)

Ward JM, Stoyas CA, Switonski PM, Ichou F, Fan W, Collins B, Wall CE, Adanyeguh I, Niu C, Sopher BL, Kinoshita C, Morrison RS, Durr A, Muotri AR, Evans RM, Mochel F, La Spada AR.
Metabolic and Organelle Morphology Defects in Mice and Human Patients Define Spinocerebellar Ataxia Type 7 as a Mitochondrial Disease.
Cell Rep. Jan 29;26(5):1189-1202.e6 (2019)

Witkos T, Krzyzosiak WJ, Fiszer A, Koscianska E.
A potential role of extended simple sequence repeats in competing endogenous RNA crosstalk.
RNA Biol. 15(11):1399-1409 (2018)

Urbanek-Trzeciak MO, Jaworska E, Krzyzosiak WJ.
miRNAmotif – A Tool for the Prediction of Pre-miRNA – Protein Interactions.
Int J Mol Sci. 19(12), 4075 (2018)

Galganski L, Urbanek MO, Krzyzosiak WJ.
Nuclear speckles: molecular organization, biological function and role in disease.
Nucleic Acids Res. 45(18):10350-10368 (2017)

Urbanek MO, Krzyzosiak WJ.
Discriminating RNA variants with single-molecule allele-specific FISH.
Mutat Res. 773:230-241 (2017)

Ciesiolka A, Jazurek M, Drazkowska K, Krzyzosiak WJ.
Structural Characteristics of Simple RNA Repeats Associated with Disease and their Deleterious. Protein Interactions
Front Cell Neurosci. 11, 97 (2017)

Urbanek MO, Michalak M, Krzyzosiak WJ.
2D and 3D FISH of expanded repeat RNAs in human lymphoblasts.
Methods. 120, 49-57 (2017)

Urbanek MO, Fiszer A, Krzyzosiak WJ.
Reduction of Huntington's Disease RNA Foci by CAG Repeat-Targeting Reagents.
Front Cell Neurosci. 11, 82 (2017)

Napierala JS, Li YJ, Lu Y, Lin K, Hauser LA, Lynch DR, Napierala M.
Comprehensive analysis of gene expression patterns in Friedreich's ataxia fibroblasts by RNA sequencing reveals altered levels of protein synthesis factors and solute carriers.
Dis Model Mech. 10(11):1353-1369 (2017)

Jazurek M, Ciesiolka A, Starega-Roslan J, Bilinska K, Krzyzosiak WJ.
Identifying proteins that bind to specific RNAs - focus on simple repeat expansion diseases.
Nucleic Acids Res. 44(19):9050-9070 (2016)

Fiszer A, Ellison-Klimontowicz ME, Krzyzosiak WJ.
Silencing of genes responsible for polyQ diseases using chemically modified single-stranded siRNAs.
Acta Biochim Pol. 63(4):759-64 (2016)

Jaworska E, Kozlowska E, Switonski PM, Krzyzosiak WJ.
Modeling simple repeat expansion diseases with iPSC technology.
Cell Mol Life Sci. 73(21):4085-100 (2016)

Urbanek MO, Jazurek M, Switonski PM, Figura G, Krzyzosiak WJ.
Nuclear speckles are detention centers for transcripts containing expanded CAG repeats.
Biochim Biophys Acta. 1862(9):1513-20 (2016)

Galka-Marciniak P, Olejniczak M, Starega-Roslan J, Szczesniak MW, Makalowska I, Krzyzosiak WJ.
siRNA release from pri-miRNA scaffolds is controlled by the sequence and structure of RNA.
Biochim Biophys Acta. 1859(4):639-49 (2016)

Urbanek MO, Krzyzosiak WJ.
RNA FISH for detecting expanded repeats in human diseases.
Methods. 98:115-23 (2016)