Stabilizing mutations of KLHL24 ubiquitin ligase cause loss of keratin 14 and human skin fragility
2016
Xu Tan, Yong Yang and colleagues identify patients with epidermolysis bullosa harboring mutations in KLHL24, which encodes a cullin 3–RBX1 ubiquitin ligase substrate receptor. They find that truncating mutations stabilize the protein by abolishing autoubiquitination, leading to enhanced ubiquitination and degradation of KRT14, the target substrate of KLHL24.
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