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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Alternative routs of phenylalanine disposal and their potential role in prevention of brain damage in phenylketonuria

2018/29/B/NZ5/01215

Keywords:

inborn errors of metabolism population study genomic variant dietary treatment

Descriptors:

  • NZ5_3: Pathogenesis of human diseases
  • NZ4_11: Metabolism
  • NZ2_1: Molecular genetics

Panel:

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

Host institution :

Uniwersytet Jagielloński - Collegium Medicum, Collegium Medicum, Wydział Lekarski

woj. małopolskie

Other projects carried out by the institution 

Principal investigator (from the host institution):

dr hab. Mirosław Bik-Multanowski 

Number of co-investigators in the project: 4

Call: OPUS 15 - announced on 2018-03-15

Amount awarded: 1 007 400 PLN

Project start date (Y-m-d): 2019-01-21

Project end date (Y-m-d): 2023-01-20

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. Komputer typu notebook (12 000 PLN)

Information in the final report

  • Publication in academic press/journals (3)
  • Articles in post-conference publications (4)
  1. The rs113883650 variant of SLC7A5 (LAT1) gene may alter brain phenylalanine content in PKU
    Authors:
    Mirosław Bik-Multanowski, Kinga Bik-Multanowski, Iwona Betka, Anna Madetko- Talowska
    Academic press:
    Molecular Genetics and Metabolism Reports (rok: 2021, tom: 27, strony: 100751), Wydawca: Elsevier
    Status:
    Published
    DOI:
    10.1016/j.ymgmr.2021.10 - link to the publication
  2. Carriership of the rs113883650/rs2287120 haplotype of the SLC7A5 (LAT1) gene increases the risk of obesity in infants with phenylketonuria
    Authors:
    Miroslaw Bik-Multanowski, Anna Madetko-Talowska, Iwona Betka, Elzbieta Swieczka, Bozena Didycz, Karolina Orchel-Szastak, Kinga Bik-Multanowska, Ewa Starostecka, Joanna Jaglowska, Renata Mozrzymas, Joanna Zolkowska, Katarzyna Chyz, Dorota Korycinska-Chaaban
    Academic press:
    Molecular Genetics and Metabolism Reports (rok: 2020, tom: 25, strony: 100640), Wydawca: Elsevier
    Status:
    Published
    DOI:
    10.1016/j.ymgmr.2020.100640 - link to the publication
  3. Management precautions for risk of obesity are necessary among infants with PKU carrying the rs113883650 variant of the LAT1 gene: A crosssectional study.
    Authors:
    Mirosław Bik-Multanowski, Bożena Didycz, Kinga Bik- Multanowska
    Academic press:
    PLoS One (rok: 2022, tom: 17, strony: e0264084), Wydawca: Public Library of Science
    Status:
    Published
    DOI:
    10.1371/journal.pone. - link to the publication
  1. The rs113883650 variant of SLC7A5 (LAT1) gene may alter brain vulnerability to hyperphenylalaninemia
    Authors:
    M. Bik-Multanowski, K. Bik- Multanowska, I. Betka, A. Madetko- Talowska
    Conference:
    European Human Genetics Conference 2021 (rok: 2021, ), Wydawca: European Society of Human Genetics
    Data:
    konferencja 28-31.08.20 21
    Status:
    Published
  2. Phenylalanine tolerance in patients with identical PAH mutations is far from identical
    Authors:
    Miroslaw Bik-Multanowski, Elzbieta Swieczka, Karolina Orchel-Szastak, Bozena Didycz
    Conference:
    Doroczny kongres Society for the Study of Inborn Errors of Metabolism (rok: 2019, ), Wydawca: ssiem.org
    Data:
    konferencja 43711
    Status:
    Published
  3. The rs113883650 variant of the LAT1 gene is a risk factor for obesity in children with PKU
    Authors:
    Mirosław Bik - Multanowski, Bożena Didycz, Kinga Bik - Multanowska
    Conference:
    SSIEM Annual Symposium (rok: 2022, ), Wydawca: Society for the Study of Inborn Errors of Metabolism
    Data:
    konferencja 30.08.2022-2.09.2022
    Status:
    Published
  4. The rs113883650 variant of the LAT1 gene increases risk of overweight in infants with PKU
    Authors:
    Bik-Multanowski Miroslaw, Didycz Bozena, Swieczka Elzbieta
    Conference:
    35th Virtual ESPKU Conference (rok: 2021, ), Wydawca: European Society for Phenylketonuria (E.S.PKU)
    Data:
    konferencja 15-15.10.20 21
    Status:
    Published

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