Projects funded by the NCN

Information on the principal investigator and host institution

Information of the project and the call

Keywords

Equipment

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Changes in cellular processes as crucial defects in pathogenesis of inherited metabolic diseases from the group of mucopolysaccharidoses

2017/25/B/NZ2/00414

Keywords:

mucopolysaccharidosis cell biology genetic diseases

Descriptors:

  • NZ2_1: Molecular genetics
  • NZ5_3: Pathogenesis of human diseases
  • NZ3_1: Cell biology

Panel:

NZ2 - Genetics, genomics: molecular genetics, genomics, proteomics, bioinformatics, systems biology, genetic epidemiology

Host institution :

Uniwersytet Gdański, Wydział Biologii

woj. pomorskie

Other projects carried out by the institution 

Principal investigator (from the host institution):

prof. Grzegorz Węgrzyn 

Number of co-investigators in the project: 6

Call: OPUS 13 - announced on 2017-03-15

Amount awarded: 2 522 800 PLN

Project start date (Y-m-d): 2018-01-15

Project end date (Y-m-d): 2022-01-14

Project duration:: 48 months (the same as in the proposal)

Project status: Project settled

Project description

Download the project description in a pdf file

Note - project descriptions were prepared by the authors of the applications themselves and placed in the system in an unchanged form.

Equipment purchased [PL]

  1. Inkubator do hodowli komórkowych (75 000 PLN)
  2. Mikroskop odwrócony do obserwacji hodowli komórkowych.
  3. System do Westen-blotting (300 000 PLN)
  4. waga analityczna.
  5. Zestaw elektroforetyczny (30 000 PLN)
  6. Łaźnia z termoregulacją (15 000 PLN)
  7. Zamrażarka medyczna z wyposażeniem.

Information in the final report

  • Publication in academic press/journals (21)
  1. Complex changes in efficiency of expression of many genes in monogenic diseases, mucopolysaccharidoses, may arise from significant disturbances in levels of factors involved in the gene expression regulation processes
    Authors:
    Zuzanna Cyske, Lidia Gaffke, Karolina Pierzynowska, Grzegorz Węgrzyn
    Academic press:
    Genes (rok: 2022, tom: -, strony: -), Wydawca: MDPI
    Status:
    Submitted
    DOI:
    Brak - link to the publication
  2. Changes in cellular processes occurring in mucopolysaccharidoses as underestimated pathomechanisms of these diseases
    Authors:
    Lidia Gaffke Karolina Pierzynowska Magdalena Podlacha Joanna Brokowska Grzegorz Węgrzyn
    Academic press:
    Cell Biology International (rok: 2021, tom: 45, strony: 498-506), Wydawca: Wiley
    Status:
    Published
    DOI:
    10.1002/cbin.11275 - link to the publication
  3. Potencjał autofagii indukowanej przez genisteinę w leczeniu chorób neurodegeneracyjnych
    Authors:
    Karolina Pierzynowska, Zuzanna Cyske, Lidia Gaffke, Estera Rintz, Jagoda Mantej, Magdalena Podlacha, Karolina Wiśniewska, Magdalena Żabińska, Maja Sochocka, Patryk Lorenc, Patrycja Bielańska, Izabela Giecewicz, Grzegorz Węgrzyn
    Academic press:
    Postępy Biochemii (rok: 2021, tom: 67, strony: 117-129), Wydawca: Polskie Towarzystwo Biochemiczne
    Status:
    Published
    DOI:
    10.18388/pb.2021_380 - link to the publication
  4. Proteasome Composition and Activity Changes in Cultured Fibroblasts Derived From Mucopolysaccharidoses Patients and Their Modulation by Genistein
    Authors:
    Karolina Pierzynowska, Lidia Gaffke, Elżbieta Jankowska, Estera Rintz, Julia Witkowska, Ewa Wieczerzak, Magdalena Podlacha, Grzegorz Węgrzyn
    Academic press:
    Frontiers in Cell and Developmental Biology (rok: 2020, tom: 8, strony: 540726), Wydawca: Frontiers
    Status:
    Published
    DOI:
    10.3389/fcell.2020.540726 - link to the publication
  5. Highly diverse phenotypes of mucopolysaccharidosis type IIIB sibling patients
    Authors:
    Paulina Anikiej-Wiczenbach, Arkadiusz Mański, Katarzyna Milska-Musa, Monika Limanówka, Jolanta Wierzba, Aleksander Jamsheer, Zuzanna Cyske, Lidia Gaffke, Karolina Pierzynowska, Grzegorz Węgrzyn
    Academic press:
    Journal of Applied Genetics , Wydawca: Springer-Nature
    Status:
    Submitted
    DOI:
    Brak - link to the publication
  6. Changes in expressions of genes involved in the regulation of cellular processes in mucopolysaccharidoses as assessed by fibroblast culture-based transcriptomic analyses
    Authors:
    Lidia Gaffke, Karolina Pierzynowska, Karolina Krzelowska, Ewa Piotrowska & Grzegorz Węgrzyn
    Academic press:
    Metabolic Brain Disease (rok: 2020, tom: 35, strony: 1353-1360), Wydawca: Springer-Nature
    Status:
    Published
    DOI:
    10.1007/s11011-020-00614-2 - link to the publication
  7. Differences in gene expression patterns, revealed by RNA-seq analysis, between various Sanfilippo and Morquio disease subtypes
    Authors:
    Karolina Wiśniewska, Lidia Gaffke, Karolina Krzelowska, Grzegorz Węgrzyn, Karolina Pierzynowska
    Academic press:
    Gene (rok: 2022, tom: 812, strony: 146090), Wydawca: Elsevier
    Status:
    Published
    DOI:
    10.1016/j.gene.2021.146090 - link to the publication
  8. Gene expression-related changes in morphologies of organelles and cellular component organization in mucopolysaccharidoses.
    Authors:
    Lidia Gaffke, Karolina Pierzynowska, Estera Rintz, Zuzanna Cyske, Izabela Giecewicz, Grzegorz Węgrzyn
    Academic press:
    International Journal of Molecular Sciences (rok: 2021, tom: 22, strony: 2766), Wydawca: MDPI
    Status:
    Published
    DOI:
    10.3390/ijms22052766 - link to the publication
  9. Impaired ion homeostasis as a possible associate factor in mucopolysaccharidosis pathogenesis: transcriptomic, cellular and animal studies
    Authors:
    Lidia Gaffke, Zuzanna Szczudło, Magdalena Podlacha, Zuzanna Cyske, Estera Rintz, Jagoda Mantej, Karolina Krzelowska, Grzegorz Węgrzyn, Karolina Pierzynowska
    Academic press:
    Metabolic Brain Disease (rok: 2022, tom: 37, strony: 299-310), Wydawca: Springer-Nature
    Status:
    Published
    DOI:
    10.1007/s11011-021-00892-4 - link to the publication
  10. Molekularne mechanizmy działania genisteiny w świetle terapii chorób genetycznych i immunologicznych
    Authors:
    Karolina Pierzynowska, Magdalena Podlacha, Joanna Brokowska, Lidia Gaffke, Jagoda Mantej, Zuzanna Cyske, Estera Rintz, Marta Osiadły, Michał Bartkowski, Michał Puchalski, Michał Grabski, Michał Pierzynowski, Dominika Pankanin, Ewa Piotrowska, Stefan Tukaj, Grzegorz Węgrzyn
    Academic press:
    Postępy Biochemii (rok: 2018, tom: 64, strony: 262-275), Wydawca: Polskie Towarzystwo Biochemiczne
    Status:
    Published
    DOI:
    Brak - link to the publication
  11. Oxidative stress in mucopolysaccharidoses: pharmacological implications
    Authors:
    Karolina Pierzynowska, Lidia Gaffke, Zuzanna Cyske, Grzegorz Węgrzyn, Brigitta Buttari, Elisabetta Profumo, Luciano Saso
    Academic press:
    Molecules (rok: 2021, tom: 26, strony: 5616), Wydawca: MDPI
    Status:
    Published
    DOI:
    10.3390/molecules26185616 - link to the publication
  12. Transcriptomic Changes Related to Cellular Processes with Particular Emphasis on Cell Activation in Lysosomal Storage Diseases from the Group of Mucopolysaccharidoses
    Authors:
    Estera Rintz , Lidia Gaffke, Magdalena Podlacha, Joanna Brokowska, Zuzanna Cyske, Grzegorz Węgrzyn, Karolina Pierzynowska
    Academic press:
    International Journal of Molecular Sciences (rok: 2020, tom: 21, strony: 3194), Wydawca: MDPI
    Status:
    Published
    DOI:
    10.3390/ijms21093194 - link to the publication
  13. Untypically mild phenotype of a patient suffering from Sanfilippo syndrome B with the c.638C>T/c.889C>T (p.Pro213Leu/p.Arg297Ter) mutations in the NAGLU gene
    Authors:
    Karolina Pierzynowska Arkadiusz Mański Monika Limanówka Jolanta Wierzba Lidia Gaffke Paulina Anikiej Grzegorz Węgrzyn
    Academic press:
    Molecular Genetic and Genomic Medicine (rok: 2020, tom: 8, strony: 1356), Wydawca: Wiley
    Status:
    Published
    DOI:
    10.1002/mgg3.1356 - link to the publication
  14. Separating gene clustering in the rare mucopolysaccharidosis disease
    Authors:
    Leon Bobrowski, Tomasz Łukaszuk, Lida Gaffke, Zuzanna Cyske, Mariusz Ferenc, Karolina Pierzynowska, Grzegorz Węgrzyn
    Academic press:
    Journal of Applied Genetics , Wydawca: Springer-Nature
    Status:
    Accepted for publication
    DOI:
    10.1007/s13353-022-00691-2 - link to the publication
  15. One drug to treat many diseases: unlocking the economic trap of rare diseases
    Authors:
    Karolina Pierzynowska, Teresa Kamińska, Grzegorz Węgrzyn
    Academic press:
    Matabolic Brain Disease (rok: 2020, tom: 35, strony: 1237-1240), Wydawca: Springer-Nature
    Status:
    Published
    DOI:
    10.1007/s11011-020-00617-z - link to the publication
  16. Transcriptomic analyses suggest that mucopolysaccharidosis patients may be less susceptible to COVID-19
    Authors:
    Karolina Pierzynowska , Lidia Gaffke, Grzegorz Węgrzyn
    Academic press:
    FEBS Letters (rok: 2020, tom: 594, strony: 3363-3370), Wydawca: Wiley
    Status:
    Published
    DOI:
    10.1002/1873-3468.13908 - link to the publication
  17. Underestimated aspect of mucopolysaccharidosis pathogenesis: global changes in cellular processes revealed by transcriptomic studies
    Authors:
    Lidia Gaffke, Karolina Pierzynowska, Magdalena Podlacha, Dżesika Hoinkis, Estera Rintz, Joanna Brokowska, Zuzanna Cyske, Grzegorz Węgrzyn
    Academic press:
    International Journal of Molecular Sciences (rok: 2020, tom: 21, strony: 1204), Wydawca: MDPI
    Status:
    Published
    DOI:
    10.3390/ijms21041204 - link to the publication
  18. Changes in expression of signal transduction-related genes, and formation of aggregates of GPER1 and OXTR receptors in mucopolysaccharidosis cells
    Authors:
    Karolina Pierzynowska, Magdalena Żabińska, Lidia Gaffke, Zuzanna Cyske, Grzegorz Węgrzyn
    Academic press:
    European Journal of Cell Biology (rok: 2022, tom: -, strony: -), Wydawca: Elsevier
    Status:
    Submitted
    DOI:
    brak - link to the publication
  19. Expression of genes involved in apoptosis is dysregulated in mucopolysaccharidoses as revealed by pilot transcriptomic analyses
    Authors:
    Joanna Brokowska Karolina Pierzynowska Lidia Gaffke Estera Rintz Grzegorz Węgrzyn
    Academic press:
    Cell Biology International (rok: 2021, tom: 45, strony: 549-557), Wydawca: Wiley
    Status:
    Published
    DOI:
    10.1002/cbin.11332 - link to the publication
  20. Genetic base of behavioral disorders in mucopolysaccharidoses: transcriptomic studies
    Authors:
    Karolina Pierzynowska, Lidia Gaffke, Magdalena Podlacha, Grzegorz Węgrzyn
    Academic press:
    International Journal of Molecular Sciences (rok: 2020, tom: 21, strony: 1156), Wydawca: MDPI
    Status:
    Published
    DOI:
    10.3390/ijms21031156 - link to the publication
  21. Mucopolysaccharidosis and autophagy: controversies on the contribution of the process to the pathogenesis and possible therapeutic applications
    Authors:
    Karolina Pierzynowska, Lidia Gaffke, Magdalena Podlacha, Joanna Brokowska, Grzegorz Węgrzyn
    Academic press:
    Neuromolecular Medicine (rok: 2020, tom: 22, strony: 25-30), Wydawca: Springer-Nature
    Status:
    Published
    DOI:
    10.1007/s12017-019-08559-1 - link to the publication

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