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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Determination of biochemical properties and interaction partners of human CLPB protein - its physiological significance and role in MEGCANN syndrome pathogenesis.

2015/18/E/NZ1/00673

Keywords:

CLPB MEGCANN AAA

Descriptors:

  • NZ1_2: Biochemistry

Panel:

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

Host institution :

Uniwersytet Gdański, Międzyuczelniany Wydział Biotechnologii Uniwersytetu Gdańskiego i Gdańskiego Uniwersytetu Medycznego

woj. pomorskie

Other projects carried out by the institution 

Principal investigator (from the host institution):

dr Szymon Ziętkiewicz 

Number of co-investigators in the project: 6

Call: SONATA BIS 5 - announced on 2015-06-15

Amount awarded: 659 960 PLN

Project start date (Y-m-d): 2016-04-11

Project end date (Y-m-d): 2021-04-10

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.

Equipment purchased [PL]

  1. Urządzenie do elektrotransferu białek w metodzie Western Blot "TransBlot turbo".
  2. Zamrażarka -80 C (56 000 PLN)
  3. Wirówka z chłodzeniem (32 000 PLN)
  4. Urządzenie do ultrafiltracji dużych objętości Amicon (7 000 PLN)
  5. młyn kulowy do kriogenicznego rozbijania komórek drożdżowych.

Information in the final report

  • Publication in academic press/journals (2)
  1. NEUTROPENIA AND INTELLECTUAL DISABILITY ARE HALLMARKS OF BIALLELIC AND DE NOVO CLPB DEFICIENCY
    Authors:
    Saskia B. Wortmann*, Szymon Ziętkiewicz*, Sergio Guerrero-Castillo, René G. Feichtinger, Matias Wagner, Jacqui Russell, Carolyn Ellaway, Dagmara Mróz, Hubert Wyszkowski, Denisa Weis, Iris Hannibal, Celina von Stülpnagel, Alfredo Cabrera-Orefice, Uta Lichter-Konecki, Jenna Gaesser, Randy Windreich, Kasiani C. Myers, Robert Lorsbach, Russell C Dale, Søren Gersting, P Carlos E. Prada, John Christodoulou, Nicole I. Wolf, Hanka Venselaar, Johannes A. Mayr, Ron A. Wevers *równocenny wkład
    Academic press:
    Genetics in Medicine (rok: 2021, tom: 23(9), strony: 1705-1714), Wydawca: Springer Nature
    Status:
    Published
    DOI:
    10.1038/s41436-021-01194-x - link to the publication
  2. CLPB (caseinolytic peptidase B homolog), the first mitochondrial protein refoldase associated with human disease
    Authors:
    Dagmara Mróz, Hubert Wyszkowski, Tomasz Szablewski, Katarzyna Zawieracz, Rafał Dutkiewicz, Katarzyna Bury, Saskia B.Wortmann, Ron A.Wevers, Szymon Ziętkiewicz
    Academic press:
    Biochimica et Biophysica Acta (BBA) - General Subjects (rok: 2020, tom: 1864 (4), strony: 129512), Wydawca: Elsevier
    Status:
    Published
    DOI:
    10.1016/j.bbagen.2020.129512 - link to the publication

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