Projects funded by the NCN

Information on the principal investigator and host institution

Information of the project and the call

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Functional study of a nonsense mutation in the IRF2BPL gene - an attempt to characterise a novel neurodegenerative human disease

2017/27/B/NZ1/02401

Keywords:

disease modeling induced pluripotent stem cells genome engineering neuronal differentiation IRF2BPL

Descriptors:

  • NZ1_5: Genetic engineering
  • NZ1_1: Molecular biology

Panel:

NZ1 - Molecular biology, structural biology, biotechnology: molecular biology, structural biology, biotechnology

Host institution :

Warszawski Uniwersytet Medyczny, Wydział Lekarski

woj. mazowieckie

Other projects carried out by the institution 

Principal investigator (from the host institution):

dr hab. Paweł Lisowski 

Number of co-investigators in the project: 5

Call: OPUS 14 - announced on 2017-09-15

Amount awarded: 1 995 800 PLN

Project start date (Y-m-d): 2018-08-14

Project end date (Y-m-d): 2024-08-13

Project duration:: 36 months (the same as in the proposal)

Project status: Project completed

Project description

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

Information in the final report

  • Publication in academic press/journals (4)
  1. Mechanisms of IRF2BPL-related disorders and identification of a potential therapeutic strategy
    Authors:
    Sinha Ray S, Dutta D, Dennys C, Powers S, Roussel F, Lisowski P, Glažar P, Zhang X, Biswas P, Caporale JR, Rajewsky N, Bickle M, Wein N, Bellen HJ, Likhite S, Marcogliese PC, Meyer KC.
    Academic press:
    Cell Reports (rok: 2022, tom: 6;41(10), strony: 111751), Wydawca: Cell Press
    Status:
    Published
    DOI:
    10.1016/j.celrep.2022.111751 - link to the publication
  2. Neurodevelopmental disorder associated with IRF2BPL gene mutation: Expanding the phenotype?
    Authors:
    Skorvanek M, Dusek P, Rydzanicz M, Walczak A, Kosinska J, Kostrzewa G, Brzozowska M, Han V, Dosekova P, Gdovinova Z, Lehotska Z, Lisowski P, Ploski R.
    Academic press:
    Parkinsonism & Related Disorders (rok: 2019, tom: 62, strony: 239-241), Wydawca: ELSEVIER
    Status:
    Published
    DOI:
    10.1016/j.parkreldis.2019.01.017 - link to the publication
  3. Generation of Human iPSC-derived Neural Progenitor Cells (NPCs) as Drug Discovery Model for Neurological and Mitochondrial Disorders
    Authors:
    Annika Zink, Pawel Lisowski, Alessandro Prigione
    Academic press:
    bio-protocol (rok: 2021, tom: 11, strony: e3939), Wydawca: bio-protocol
    Status:
    Published
    DOI:
    10.21769/BioProtoc.3939 - link to the publication
  4. Generation of induced pluripotent stem cells from three individuals with Huntington's disease
    Authors:
    Miller DC, Lisowski P, Lickfett S, Mlody B, Bünning M, Genehr C, Ulrich C, Wanker EE, Diecke S, Priller J, Prigione A.
    Academic press:
    Stem Cell Res . (rok: 2022, tom: 2022 Dec;65:102976, strony: 2022 Dec;65:102976), Wydawca: Elsevier
    Status:
    Published
    DOI:
    10.1016/j.scr.2022.102976 - link to the publication

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