Recessive variants in ESCRT-II component VPS25 alter vesicular transport and small extracellular vesicle processing in lethal neonatal encephalopathy.

Ioannis Isaioglou, Lama AlAbdi, Muhammad Tehseen, Yossef Lopez de Los Santos, Mansour Aldehaiman, Gloria Lopez-Madrigal, Norah Altuwaijri, Viviana Hermosilla Aguayo, Anna Pleyers, Maya Ayach, Ashraf Al-Amoudi, Jing Kai, Vlad-Stefan Raducanu, Bader Alhaddad, Edda Hofstätter, Amani Al-Amodi, Mais O Hashem, Hessa S Alsaif, Claudius Fazelnia, Firdous Abdulwahab, Amal Jaafar, Tarfa Alshidi, Rana Helaby, Adriana M Montaño, Kara C Klemp, Ellen Totten, Wesam Kurdi, Saly Eltohamy, Hadeel Abdollah E Alrukban, Bashayer Alawam, Licia Selleri, Davor Lessel, Dimitrios Kapogiannis, Samir M Hamdan, Stephen R Braddock, Fowzan S Alkuraya, Jasmeen S Merzaban

DOI: 10.1186/s13073-026-01693-z

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