Identification and characterization of new genetic variants associated with disturbances in the metabolism of biogenic amine neurotransmitters
2021/43/B/NZ5/01027
Keywords
Descriptors
- NZ5_003: Patogeneza chorób człowieka
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
Voivodeship: mazowieckie
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
- 2022-11-03
- Project end date
- 2027-03-02
- Project duration
- 52 months (the same as in the proposal)
- Project status
- Pending project
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 (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 (year: 2023, volume: 139, pages: 46027), Publisher: ELSEVIER
- Status:
- Published
- DOI:
- 10.1016/j.ymgme.2023.107624. – link to the publication