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Identification and characterization of new genetic variants associated with disturbances in the metabolism of biogenic amine neurotransmitters

2021/43/B/NZ5/01027

Keywords:

neurotransmitters metabolism disorders the biogenic amines exome sequencing genetic variants

Descriptors:

  • NZ5_3: Pathogenesis of human diseases

Panel:

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

Host institution :

Instytut Matki i Dziecka

woj.

Other projects carried out by the institution 

Principal investigator (from the host institution):

dr hab. Agnieszka Magdalena Rygiel 

Number of co-investigators in the project: 8

Call: OPUS 22 - announced on 2021-09-15

Amount awarded: 1 410 374 PLN

Project start date (Y-m-d): 2022-11-03

Project end date (Y-m-d): 2026-11-02

Project duration:: 48 months (the same as in the proposal)

Project status: Pending project

Project description

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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 (1)
  1. Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes
    Authors:
    Nastassja Himmelreich a 1, Mariarita Bertoldi b 1, Majid Alfadhel c d, Malak Ali Alghamdi e, Yair Anikster f, Xinhua Bao g, Fahad A. Bashiri h, Bruria Ben Zeev i, Giovanni Bisello b, Ahmet Cevdet Ceylan j, Yin-Hsiu Chien k, Yew Sing Choy l, Sarah H. Elsea m, Lisa Flint n, Àngels García-Cazorla o, Charul Gijavanekar m, Emel Yılmaz Gümüş p, Muddathir H. Hamad q, Burcu Hişmi p, Tomas Honzik r, Oya Kuseyri Hübschmann s, Wuh-Liang Hwu k, Salvador Ibáñez-Micó t, Kathrin Jeltsch s, Natalia Juliá-Palacios o, Çiğdem Seher Kasapkara u, Manju A. Kurian v, Katarzyna Kusmierska w, Ning Liu m, Lock Hock Ngu x, John D. Odom m, Winnie Peitee Ong x, Thomas Opladen s, Mari Oppeboen y, Phillip L. Pearl z, Belén Pérez aa, Roser Pons ab, Agnieszka Magdalena Rygiel ac, Tan Ee Shien ad, Robert Spaull v, Jolanta Sykut-Cegielska ae, Brahim Tabarki af, Trine Tangeraas aj, Beat Thöny ag, Tessa Wassenberg ah, Yongxin Wen e, Yusnita Yakob ai, Jasmine Goh Chew Yin ad, Jiri Zeman r, Nenad Blau ag
    Academic press:
    Molecular Genetics and Metabolism (rok: 2023, tom: 139, strony: 45662), Wydawca: ELSEVIER
    Status:
    Published
    DOI:
    10.1016/j.ymgme.2023.107624. - link to the publication

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