Patient-derived models of UBA5-associated encephalopathy identify defects in neurodevelopment and highlight potential therapeutic avenues

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DOI:10.1126/scitranslmed.adn8417
作者：Helen Chen, Christy W. LaFlamme, Yong-Dong Wang, Aidan W. Blan, Nikki Koehler, Renata Mendonca Moraes, Athena R. Olszewski, Edith P. Almanza Fuerte, Emily S. Bo
文献类型：期刊论文
补充材料：只需要正文
文献链接：https://doi.org/10.1126/scitranslmed.adn8417

American Association for the Advancement of Science (AAAS)

Abstract：UBA5 encodes for the E1 enzyme of the UFMylation cascade, which plays an essential role in endoplasmic reticulum (ER) homeostasis. The clinical phenotypes of UBA5-associated encephalopathy i

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