Projects funded by the NCN

Information on the principal investigator and host institution

Information of the project and the call

Keywords

Equipment

Delete all

Pathomechanism of the Charcot-Marie-Tooth disease type 4A - searching for teraphy

2016/23/B/NZ3/02035

Keywords:

neuropathy GDAP1 pathomechanism

Descriptors:

  • NZ3_1: Cell biology
  • NZ3_2: Cell physiology
  • NZ3_6: Cell neurobiology

Panel:

NZ3 - Cellular and developmental biology: cell biology, developmental biology, ageing biology, neurobiology

Host institution :

Instytut Medycyny Doświadczalnej i Klinicznej im. Mirosława Mossakowskiego Polskiej Akademii Nauk

woj. mazowieckie

Other projects carried out by the institution 

Principal investigator (from the host institution):

prof. Andrzej Kochański 

Number of co-investigators in the project: 6

Call: OPUS 12 - announced on 2016-09-15

Amount awarded: 1 448 700 PLN

Project start date (Y-m-d): 2017-07-20

Project end date (Y-m-d): 2021-07-19

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 z wytrząsaniem i opcją chłodzenia z akcesoriami (50 000 PLN)
  2. mikrowirówka.
  3. wirówka uniwersalna.
  4. Termocykler z gradientem (37 000 PLN)
  5. pojemnik do przechowywania komórek.
  6. Inkubator CO2 (50 000 PLN)
  7. mieszadło magnetyczne.
  8. urzadzenie do analizy western blot 2.
  9. wytrząsarka.
  10. urządzenie do Western blot.

Information in the final report

  • Publication in academic press/journals (9)
  1. A role for the GDAP1 gene in the molecular pathogenesis of Charcot-Marie-Tooth disease
    Authors:
    Weronika Rzepnikowska, Andrzej Kochański
    Academic press:
    Acta Neurobiologiae Experimentalis (rok: 2018, tom: 78, strony: 45304), Wydawca: Exeley
    Status:
    Published
    DOI:
    10.21307/ane-2018-002 - link to the publication
  2. A Yeast-Based Model for Hereditary Motor and Sensory Neuropathies: A Simple System for Complex, Heterogeneous Diseases
    Authors:
    Weronika Rzepnikowska, Joanna Kamińska, Dagmara Kabzińska, Katarzyna Binięda, Andrzej Kochański
    Academic press:
    International Journal of Molecular Sciences (rok: 2020, tom: 21(12):4277, strony: 45314), Wydawca: MDPI
    Status:
    Published
    DOI:
    10.3390/ijms21124277 - link to the publication
  3. Mutations in GDAP1 Influence Structure and Function of the Trans-Golgi Network
    Authors:
    Katarzyna Binięda , Weronika Rzepnikowska , Damian Kolakowski , Joanna Kaminska , Andrzej Antoni Szczepankiewicz , Hanna Nieznańska , Andrzej Kochański , Dagmara Kabzińska
    Academic press:
    International Journal of Molecular Sciences (rok: 2021, tom: 22(2):914, strony: 45309), Wydawca: MDPI
    Status:
    Published
    DOI:
    10.3390/ijms22020914 - link to the publication
  4. Pathogenic Effect of GDAP1 gene mutations in a Yeast Model
    Authors:
    Weronika Rzepnikowska, Joanna Kamińska, Dagmara Kabzińska, Andrzej Kochański
    Academic press:
    Genes (rok: 2020, tom: 11, strony: 45305), Wydawca: MDPI
    Status:
    Published
    DOI:
    10.3390/genes11030310 - link to the publication
  5. Perspektywy terapii w polineuropatiach genetycznie uwarunkowanych
    Authors:
    Dagmara Kabzińska, Weronika Rzepnikowska, Katarzyna Binięda, Artur Kiepura, Andrzej Kochański
    Academic press:
    Postępy Biochemii (rok: 2018, tom: 64, strony: 288-299), Wydawca: Polskie Towarzystwo Biochemiczne
    Status:
    Published
    DOI:
    brak - link to the publication
  6. The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on MME
    Authors:
    Jan Senderek1*, Petra Lassuthova2, Dagmara Kabzińska3, Lisa Abreu4, Jonathan Baets5,6,7, Christian Beetz8, Geir J. Braathen9, David Brenner10, Lois Dankwa11, Tine Deconinck5,6, Peter De Jonghe5,6,7, Bianca Dräger12, Katja Eggermann13, Melina Ellis14, Carina Fischer15, Tanya Stojkovic16, David N. Herrmann17, Sarah Hilbert18, Rita Horvath19, Helle Høyer,9, Stephan Iglseder20, Marina Kennerson14, Katharina Kinslechner15,21, Jennefer Kohler22, Ingo Kurth13, Nigel G. Laing23,24, Phillipa J. Lamont25, Wolfgang Löscher26, Albert Ludolph10, Wilson Marques Jr.27, Garth Nicholson14, Royston Ong23,24, Susanne Petri28, Gianina Ravenscroft23,24, Adriana Rebelo4, Giulia Ricci29, Sabine Rudnik-Schöneborn30, Steven S. Scherer11, Anja Schirmacher12, Beate Schlotter-Weigel1, Ludger Schoels31,32, Rebecca Schüle31,32, Bruno Francou33, Tim M. Strom34,35, Undiagnosed Diseases Network36, Johannes Wagner37, David Walk18, Julia Wanschitz26, Daniela Weinmann15,21, Jochen Weishaupt10, Manuela Wiessner1, Reinhard Windhager15, Pitt Young12, Stephan Züchner4, Stefan Toegel15,21, Pavel Seeman2, Andrzej Kochański3, Michaela Auer-Grumbach1
    Academic press:
    Neurology (rok: 2020, tom: 95(24), strony: 3163-3179), Wydawca: American Association of Neurology
    Status:
    Published
    DOI:
    10.1212/WNL.0000000000011132. - link to the publication
  7. Characterization o HNRNPA1 mutations defines diversity in pathogenic mechanisms and clinical presentation
    Authors:
    Danique Beijer (University of Antwerp) Hong Joo Kim (St. Jude Children's Research Hospital) Guo Lin (University of Pennsylvania) Kevin O'Donovan (St. Jude Children's Research Hospital) Ines Mademan (University of Antwerp) Tine Deconinck (University of Antwerp) Kristof Van Schil (University of Antwerp) Charlotte M Fare (University of Pennsylvania) Lauren E Drake (University of Pennsylvania) Alice F Ford (University of Pennsylvania) Andrzej Kochanski (Polish Academy of Sciences) Dagmara Kabzinska (Polish Academy of Sciences) Nicolas Dubuisson (University Hospitals St-Luc) Peter van den Bergh (University Hospitals St-Luc) Nicol Voermans (Radboud University Medical Centre) Richard JLF Lemmers (Leiden University Medical Center) Silvere van der Maarel (Leiden University Medical Center) Devon Bonner (Stanford University) Jacinda B Sampson (Stanford University) Matthew T Wheeler (Stanford University) Anahit Mehrabyan (University of North Carolina at Chapel Hill) Steven Palmer (University of North Carolina at Chapel Hill) Peter de Jonghe (University of Antwerp) James Shorter (Perelman School of Medicine at The University of Pennsylvania , PA) J. Paul Taylor (St. Jude Children's Research Hospital) Jonathan Baets (University of Antwerp)
    Academic press:
    JCI Insight (rok: 2021, tom: 6(14), strony: 45309), Wydawca: ASCI
    Status:
    Published
    DOI:
    10.1172/jci.insight.148363 - link to the publication
  8. Demyelinating Charcot Marie Tooth neuropathy associated with FBLN5 mutations
    Authors:
    Dana Šafka Brožková, Tanya Stojkovic, Jana Haberlová, Radim Mazanec, Reinhard Windhager, Paloma Fernandes Rosenegger, Sandra Hacker, Stephan Züchner, Andrzej Kochański, Sarah Leonard-Louis, Bruno Francou, Philippe Latour, Jan Senderek, Pavel Seeman, Michaela Auer-Grumbach
    Academic press:
    European Journal of Neurology (rok: 2020, tom: 27(12), strony: 2568-2574), Wydawca: Wiley
    Status:
    Published
    DOI:
    10.1111/ene.14463 - link to the publication
  9. Charcot-Marie-Tooth type1A drug therapies: role of adenyl cyclase activity and G-protein coupled receptors in disease pathomechanism
    Authors:
    Artur Kiepura, Andrzej Kochański
    Academic press:
    Acta Neurobiologiae Experimentalis (rok: 2018, tom: 78, strony: 198-209), Wydawca: Exeley
    Status:
    Published
    DOI:
    10.21307/ane-2018-018 - link to the publication

O Narodowym Centrum Nauki

Finansowanie nauki

Współpraca zagraniczna

Centrum prasowe

Deklaracja dostępności
Przetwarzanie danych osobowych
Polityka cookies

Partnerzy