Biallelic ACER3 Variants Cause Infantile- and Early-Childhood-Onset Neurodegeneration with Leukodystrophy

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Authors: Rauan B. Kaiyrzhanov, Ruijuan Xu, Mina Zamani, Robert D. Healey, Cesar Alves, Maha Zaki, Arpita Devi, Laura Planas‐Serra, Mahtab Tavasoli, Daniel G. Calame, Daniel Canals, Varunvenkat M. Srinivasan
+88 more Gergely Karsai, Cynthia J. Tifft, Zahra Firoozfar, Mohammad Yahya Vahidi Mehrjardi, Mohamed S. Abdel‐Hamid, Gözde Yeşil, Shahryar Alavi, Hüseyin Per, Hakan Gümüş, Anju Shukla, Giovanni Zifarelli, Farzad Hashemi-Gorji, Amy M. Pizzino, Agatha Schlüter, Mónica Troncoso, Kandamurugu Manickam, Dimah Saade, Sandra C. Donkervoort, Lisa T. Emrick, Yavuz Oktay, Omar A Abdul-Rahman, Lynne A. Wolfe, Emily C. Boothe, Hossein Darvish, Vahid Reza Yassaee, Toktam Moosavian, Kimberly McDonald, Mauricio J. De Castro, Marcus Lee, Meriel McEntagart, Katrina Stone, Sahar Mansour, Shane A McKee, Klaus Schmitz-Abe, Arturo García Villaseñor, Mauricio R. Delgado, Richard Chang, Warren A. Marks, James A. Bartley, Adam J. Guenzel, Jorge Carranza-del Río, Eloísa Añorve, Mohammad Miryounesi, Emrah Yücesan, Beyza Servet Göncü, Akif Ayaz, Ayça Dilruba Aslanger, Klaas J. Wierenga, Aaliya A. Ahmad, Ibrahim Moussaoui, Jona Mijalkovic, Shimriet Zeidler, Frank Sleutels, Erika E. Ward, Amelia J. Kirby, Lauren M. Baldwin, Faezeh Jamali, Majid Alfadhel, Muhammad Umair, José E. Abdenur, Rebekah Barrick, Maija Steenari, Radhakrishnan Periyasamy, Katta M. Girisha, Abdelrahim A. Sadek, Danielle DeMarzo, Melissa Napoli, Yazmin Enchautegui-Colon, Brahim M. Tabarki, Laila Selim, Nihal M. Al Menabawy, Carol Saunders, Randi N. Gadea, Ana S.A. Cohen, Jean‐Baptiste Le Pichon, Fatemeh Shirazi, Shiva Vaheb Hossinabadi, Motaharesadat Hashemi, Mohammad Mousaei Ghasroldasht, Mohammadreza Dehghani, Carsten G. Bönnemann, Rita Horváth, Hanns Lochmüller, Semra Hız Kurul, Mojtaba Movahedinia, Ali Rashidi‐Nezhad, Reza Shervin Badv, Zahra Rezaei
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Fields of Study & Subjects

Lysosomal Storage Disorders Research Sphingolipid Metabolism and Signaling Metabolism and Genetic Disorders

Publication details

Journal / source
SSRN Electronic Journal
Publication date
1 January 2026
Language
EN
Document type
Preprint