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Decoding genetic presisposition to rare neurodevelopmental diseases: Integration of genome, transcriptome and methylome studies with genome engineering of human induced pluripotent stem cell based neuronal model

2016/22/M/NZ2/00548

Keywords

Descriptors

  • NZ2_1: Genetyka molekularna
  • NZ2_2: Genomika, transkryptomika i epigenomika

Panel

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

Host institution

Instytut Genetyki i Hodowli Zwierząt PAN

Voivodeship: 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: 4

Call

HARMONIA 8 – announced on 2016-06-15

Amount awarded
1 474 850 PLN
Project start date
2017-05-22
Project end date
2022-05-21
Project duration
60 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.

Information in the final report

Publication in academic press/journals (5)

  1. Mutant Huntingtin impairs neurodevelopment in human brain organoids through CHCHD2-mediated neurometabolic failure

    Authors:
    Pawel Lisowski , Selene Lickfett , Dr Agnieszka Rybak-Wolf , Stephanie le , Werner Dykstra , barbara mlody , Carmen Menacho , Philipp Roth , Ms Yasmin Richter , Linda Kulka , haijia wu , David Meierhofer , Ivano Legnini , max otto , Duncan Miller , Nancy Neuendorf , Tobias Hahn , Narasimha Telegu , Dr Annett Boeddrich , Professor Ertan Mayatepek , Dr Sebastian Diecke , heidi olzscha , Professor Janine Kirstein , Dr Ralf Kuehn , sidney cambridge , Professor Nikolaus Rajewsky , Professor Erich Wanker , Dr Josef Priller , Jakob Metzger
    Academic press:
    Nature Communications (year: 2024, volume: Aug 22;15(1), pages: 7027), Publisher: Nature Publishing Group
    Status:
    Published
    DOI:
    10.1038/s41467-024-51216-w – link to the publication

  2. Mitochondria and the dynamic control of stem cell homeostasis

    Authors:
    Pawel Lisowski, Preethi Kannan, Barbara Mlody, Alessandro Prigione
    Academic press:
    EMBO Reports (year: 2018, volume: 19(5), pages: 46034), Publisher: EMBO Press (Germany)
    Status:
    Published
    DOI:
    10.15252/embr.201745432 – link to the publication

  3. Novel calcineurin A (PPP3CA) mutation associated with epilepsy, constitutive enzyme activation and downregulation of protein expression

    Authors:
    Rydzanicz M, Wachowska M, Cook EC, Lisowski P, Kuźniewska B, Szymańska K, Diecke S, Prigione A, Szczałuba K, Szybińska A, Koppolu A, Murcia Pienkowski V, Kosińska J, Wiweger M, Kostrzewa G, Brzozowska M, Domańska-Pakieła D, Jurkiewicz E, Stawiński P, Gromadka A, Zielenkiewicz P, Demkow U, Dziembowska M, Kuźnicki J, Creamer TP, Płoski R.
    Academic press:
    European Journal of Human Genetics (year: 2018, volume: 27, pages: 61-69), Publisher: Springer Nature
    Status:
    Published
    DOI:
    10.1038/s41431-018-0254-8 – link to the publication

  4. Generation of Human iPSC-derived Neural Progenitor Cells (NPCs) as Drug Discovery Model for Neurological and Mitochondrial Disorders

    Authors:
    Zink A, Lisowski P, Prigione A
    Academic press:
    Bio Protoc (year: 2021, volume: Vol 11, Iss 5, pages: U.N), Publisher: Science AAAS
    Status:
    Published
    DOI:
    10.21769/BioProtoc.3939 – link to the publication

  5. Defective metabolic programming impairs early neuronal morphogenesis in neural cultures and an organoid model of Leigh syndrome

    Authors:
    Gizem Inak, Agnieszka Rybak-Wolf, Pawel Lisowski, René Jüttner, Annika Zink, Barbara Mlody, Petar Glažar, Christopher Secker, Ummi H. Ciptasari1, Werner Stenzel, Tobias Hahn, Sebastian Diecke, Josef Priller, Michael Gotthardt, Ralf Kühn, Erich E. Wanker, Nikolaus Rajewsky, Markus Schülke, Alessandro Prigione
    Academic press:
    Nat Commun (year: 2021, volume: Mar 26;12(1):1929, pages: 1929), Publisher: Nature Publishing Group
    Status:
    Published
    DOI:
    10.1038/s41467-021-22117-z – link to the publication

Book publications / chapters in book publications (1)

  1. Engineering of Human-Induced Pluripotent Stem Cells for Precise Disease Modeling

    Authors:
    Paweł Lisowski
    Book:
    Stem Cell Genetics for Biomedical Research Past, Present, and Future (year: 2017, volume: 1, pages: 369-411), Publisher: Springer International Publishing AG
    Status:
    Published

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