| 概要 |
Li-Campeau syndrome (LICAS) is a neurodevelopmental syndrome with epilepsy, ptosis, and hypothyroidism. Mutations in UBR7 cause this disease. UBR7 is an E3 ligase protein with recognizable UBR-box and PHD domains. It has been suggested UBR7 is a potential negative regulator of the N-degron N-end rule pathway.
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| 著者 |
Li C, Beauregard-Lacroix E, Kondratev C, Rousseau J, Heo AJ, Neas K, Graham BH, Rosenfeld JA, Bacino CA, Wagner M, Wenzel M, Al Mutairi F, Al Deiab H, Gleeson JG, Stanley V, Zaki MS, Kwon YT, Leroux MR, Campeau PM |
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