Projects funded by the NCN

Information on the principal investigator and host institution

Information of the project and the call

Keywords

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Molecular bases of a therapy of rare genetic diseases caused by impaired activity of nucleotide sugar transporters

2016/21/B/NZ5/00144

Keywords:

glycosylation nucleotide sugar transporters CDG II monosugar supplementation

Descriptors:

  • NZ5_7:
  • NZ3_1:
  • NZ1_7:

Panel:

NZ5 - Human and animal noninfectious diseases: etiology, mechanisms, diagnosis and treatment of diseases, poisonings and injuries (without neurological diseases)

Host institution :

Uniwersytet Wrocławski, Wydział Biotechnologii

woj. dolnośląskie

Other projects carried out by the institution 

Principal investigator (from the host institution):

prof. Mariusz Olczak 

Number of co-investigators in the project: 6

Call: OPUS 11 - announced on 2016-03-15

Amount awarded: 787 000 PLN

Project start date (Y-m-d): 2017-01-18

Project end date (Y-m-d): 2020-01-17

Project duration:: 36 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. Incorporation of fucose into glycans independent of the GDP-fucose transporter SLC35C1 preferentially utilizes salvaged over de novo GDP-fucose
    Authors:
    Edyta Skurska, Bożena Szulc, Dorota Maszczak-Seneczko, Maciej Wiktor, Wojciech Wiertelak, Mariusz Olczak
    Academic press:
    Journal of Biological Chemistry (rok: 2022, tom: 298(8), strony: 102206), Wydawca: American Society for Biochemistry and Moiecular Biology
    Status:
    Published
    DOI:
    10.1016/j.jbc.2022.102206 - link to the publication
  2. SLC35A2-CDG: Functional Characterization, Expanded Molecular, Clinical, and Biochemical Phenotypes of 30 Unreported Individuals.
    Authors:
    Bobby G. Ng, Paulina Sosicka, Satish Agadi, Mohammed Almannai, Carlos A. Bacino, Rita Barone, Lorenzo D. Botto, Jennifer E. Burton, Colleen Carlston, Brian Hon-Yin Chung, Julie S. Cohen, David Coman, Katrina M. Dipple, Naghmeh Dorrani, William B. Dobyns, Abdallah F. Elias, Leon Epstein, William A. Gahl, Domenico Garozzo, Trine Bjørg Hammer, Jaclyn Haven, Delphine Héron, Matthew Herzog, George E. Hoganson, Jesse M. Hunter, Mahim Jain, Jane Juusola, Shenela Lakhani, Hane Lee, Joy Lee, Katherine Lewis, Nicola Longo, Charles Marques Lourenço, Christopher C.Y. Mak, Dianalee McKnight, Bryce A. Mendelsohn, Cyril Mignot, Ghayda Mirzaa, Wendy Mitchell, Hiltrud Muhle, Stanley F. Nelson, Mariusz Olczak, Christina G.S. Palmer, Arthur Partikian, Marc C. Patterson, Tyler M. Pierson, Shane C. Quinonez, Brigid M. Regan, M. Elizabeth Ross, Maria J. Guillen Sacoto, Fernando Scaglia, Ingrid E. Scheffer, Devorah Segal, Nilika Shah Singhal, Pasquale Striano, Luisa Sturiale , Joseph D. Symonds, Sha Tang, Eric Vilain, Mary Willis, Lynne A. Wolfe, Hui Yang, Shoji Yano, Undiagnosed Disease Network, Zöe Powis, Sharon F. Suchy, Jill A. Rosenfeld , Andrew C. Edmondson, Stephanie Grunewald, Hudson H. Freeze
    Academic press:
    Human Mutation (rok: 2019, tom: 40(7), strony: 908-925), Wydawca: Wiley
    Status:
    Published
    DOI:
    10.1002/humu.23731 - link to the publication
  3. Modified secreted alkaline phosphatase - improved reporter protein for N-glycosylation analysis
    Authors:
    Mariusz Olczak, Bożena Szulc
    Academic press:
    PLOS One (rok: 2021, tom: 16(5), strony: e0251805), Wydawca: PLOS
    Status:
    Published
    DOI:
    10.1371/ - link to the publication
  4. Mutations in the SLC35C1 gene, contributing to significant differences in fucosylation patterns, may underlie the diverse phenotypic manifestations observed in leukocyte adhesion deficiency type II patients
    Authors:
    Edyta Skurska, Bożena Szulc, Karol Kreczko, Mariusz Olczak
    Academic press:
    International Journal of Biochemistry and Cell Biology (rok: 2024, tom: 173, strony: 106602), Wydawca: Elsevier
    Status:
    Published
    DOI:
    10.1016/j.biocel.2024.106602 - link to the publication
  5. Novel Insights into Selected Disease-Causing Mutations within the SLC35A1 Gene Encoding the CMP-Sialic Acid Transporter
    Authors:
    Bozena Szulc, Yelyzaveta Zadorozhna, Mariusz Olczak , Wojciech Wiertelak, Dorota Maszczak-Seneczko
    Academic press:
    International Journal of Molecular Sciences (rok: 2021, tom: 22, strony: 304-327), Wydawca: MDPI
    Status:
    Published
    DOI:
    10.3390/ - link to the publication

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