Article
Diphthamide deficiency promotes association of eEF2 with p53 to induce p21 expression and neural crest defects.
Nature communications - 26 Apr 2024
Shi Yu, Huang Daochao, Song Cui, Cao Ruixue, Wang Zhao, Wang Dan, Zhao Li, Xu Xiaolu, Lu Congyu, Xiong Feng, Zhao Haowen, Li Shuxiang, Zhou Quansheng, Luo Shuyue, Hu Dongjie, Zhang Yun, Wang Cui, Shen Yiping, Su Weiting, Wu Yili, Schmitz Karl, Wei Shuo, Song Weihong
Abstract excerpt
Diphthamide is a modified histidine residue unique for eukaryotic translation elongation factor 2 (eEF2), a key ribosomal protein. Loss of this evolutionarily conserved modification causes developmental defects through unknown mechanisms. In a patient with compound heterozygous mutations in Diphthamide Biosynthesis 1 (DPH1) and impaired eEF2 diphthamide modification, we observe multiple defects in neural crest...
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