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Authors
Valtorta, Beatrice
Polackova, Zuzana
Maroofian, Reza
Herold, Aveeva
Karagoz, Irem
Zaki, Maha S
Bronisova, Denisa
Liao, Meijiang
Zamani, Mina
Scardamaglia, Annarita
Collomb, Nine
Lopez-Jimenez, Lidia
Barrero, Maria J
Schröter, Julian
Syrbe, Steffen
Vallanger, Marion Heidi
Houge, Sofia Douzgou
Alanay, Yasemin
Akgun-Dogan, Ozlem
Vogt, Julie
Muriello, Michael
Hendriks, Yvonne M C
Afenjar, Alexandra
Damseh, Nadirah
Kaiyrzhanov, Rauan
Niceta, Marcello
Tartaglia, Marco
Kurian, Manju A
Di Donato, Nataliya
Yoon, Grace
Houlden, Henry
Samarut, Éric
Hanzlikova, Hana
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Funding
Funding for this research was provided by:
Přírodovědecká Fakulta, Univerzita Karlova (324525)
Akademie Věd České Republiky (L200522301)
Norwegian National Reference Centre on Rare Diagnoses (43066)
Norges Forskningsråd (358387)
Ministero della Salute (PNRR-MR1-2022-12376811)
Santé
Grantová Agentura České Republiky (25-15199S)
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Article History
Received: 4 November 2025
Accepted: 6 May 2026
First Online: 12 May 2026
Declarations
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: The use of patient-derived samples was approved by the Ethics Committee of the Institute of Molecular Genetics of the Czech Academy of Sciences and conducted in accordance with the institutional ethical guidelines (Genome dynamics – 1–2021) and the Declaration of Helsinki. Written informed consent was obtained from all participants or their legal guardians at the time of sample collection for the derivation and use of cell lines in research. All zebrafish experiments were conducted in accordance with institutional animal care guidelines at the Centre de recherche du CHUM and the Canadian Council for Animal Care. All procedures were approved by the Comité interinstitutionnel de protection des animaux (protocol number N25022ESpz).
: Not applicable.
: Éric Samarut is a co-founder of DanioDesign Inc. (Qc, Canada) and of Osta Therapeutics (France). These commercial affiliations did not play any role in investigational design, data collection and analysis, the decision to publish or the preparation of the manuscript. The remaining authors declare no competing interests.
