Article
ADAT3 variants disrupt the activity of the ADAT tRNA deaminase complex and impair neuronal migration.
Brain : a journal of neurology - 3 Sept 2025
Del-Pozo-Rodriguez Jordi, Tilly Peggy, Lecat Romain, Vaca Hugo Rolando, Mosser Laureline, Brivio Elena, Balla Till, Gomes Marina Vitoria, Ramos-Morales Elizabeth, Schwaller Noémie, Salinas-Giegé Thalia, VanNoy Grace, England Eleina M, Kern Lovgren Alysia, O'Leary Melanie, Chopra Maya, Meave Ojeda Naomi, Toosi Mehran Beiraghi, Eslahi Atieh, Alerasool Masoome, Mojarrad Majid, Pais Lynn S, Yeh Rebecca C, Gable Dustin L, Hashem Mais O, Abdulwahab Firdous, Rakiz Alqurashi Muath, Sbeih Loai Z, Adas Blanco Omar Abu, Khater Renad Abu, Oprea Gabriela, Rad Aboulfazl, Alzaidan Hamad, Aldhalaan Hesham, Tous Ehab, Alsagheir Afaf, Alowain Mohammed, Tamim Abdullah, Alfayez Khowlah, Alhashem Amal, Alnuzha Aisha, Kamel Mona, Al-Awam Bashayer S, Elnaggar Walaa, Almenabawy Nihal, O'Donnell-Luria Anne, Neil Jennifer E, Gleeson Joseph G, Walsh Christopher A, Alkuraya Fowzan S, AlAbdi Lama, Elkhateeb Nour, Selim Laila, Srivastava Siddharth, Nedialkova Danny D, Drouard Laurence, Romier Christophe, Bayam Efil, Godin Juliette D
Abstract excerpt
The ADAT2/ADAT3 (ADAT) complex catalyses the adenosine to inosine modification at the wobble position of eukaryotic tRNAs. Mutations in ADAT3, the catalytically inactive subunit of the ADAT2/ADAT3 complex, have been identified in patients presenting with severe neurodevelopmental disorders. Yet, the physiological function of the ADAT2/ADAT3 complex during brain development remains totally unknown. Here, we...
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