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Loss of RUBCN causes autophagy overdrive in a neurodevelopmental disorder with age-dependent neurodegeneration.
Efthymiou S, Tabata K, Dafsari HS, Schober E, Latza C, Isaoğlu M, Abuelrub A, Rad A, Firoozfar Z, Turchetti V, Lin RQ, Maroofian R, Wiethoff S, Afzal E, Zafar F, Rana N, McRae AM, Kaiyrzhanov R, Guliyeva U, Gulieva S, Melikishvili G, Lespinasse J, Vitobello A, Denommé-Pichon AS, Wentzensen IM, Mefford HC, Briere LC, Walker MA, High FA, Sweetser DA, Kendall M, Franchi M, Brown M, Latner D, Joset P, Ivanovski I, Alfadhel M, Alluhaydan I, Frederiksen AS, Arriens V, Hanker B, Mankad K, Guerin JB, Durdağı S, Vona B, Jungbluth H, Antebi A, Yoshimori T, Houlden H
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Document Title Loss of RUBCN causes autophagy overdrive in a neurodevelopmental disorder with age-dependent neurodegeneration.
Author / Organization Efthymiou S, Tabata K, Dafsari HS, Schober E, Latza C, Isaoğlu M, Abuelrub A, Rad A, Firoozfar Z, Turchetti V, Lin RQ, Maroofian R, Wiethoff S, Afzal E, Zafar F, Rana N, McRae AM, Kaiyrzhanov R, Guliyeva U, Gulieva S, Melikishvili G, Lespinasse J, Vitobello A, Denommé-Pichon AS, Wentzensen IM, Mefford HC, Briere LC, Walker MA, High FA, Sweetser DA, Kendall M, Franchi M, Brown M, Latner D, Joset P, Ivanovski I, Alfadhel M, Alluhaydan I, Frederiksen AS, Arriens V, Hanker B, Mankad K, Guerin JB, Durdağı S, Vona B, Jungbluth H, Antebi A, Yoshimori T, Houlden H
Subject & Discipline medRxiv
Categories Medicine & Health
Publication Year 2026
License / Rights Open Access / Creative Commons
Resource Verification Listed PDF (Verification Pending)
Original Host Website PubMed Central (pmc.ncbi.nlm.nih.gov)
File Format application/pdf (Portable Document Format)
Language EN
Catalog ID DOC-76371
Original Source Link Visit Source Page on pmc.ncbi.nlm.nih.gov »