Article
Excess KLHL24 Impairs Skin Wound Healing through the Degradation of Vimentin.
The Journal of investigative dermatology - 1 Jul 2023
Liu Yihe, Cui Jun, Zhang Jing, Chen Zhiming, Song Zhongya, Bao Dan, Xiang Ruiyu, Li Dongqing, Yang Yong
Abstract excerpt
Start codon variants in ubiquitin ligase KLHL24 lead to a gain-of-function mutant KLHL24-ΔN28, which mediates the excessive degradation of keratin 15, desmin, and keratin 14, resulting in alopecia, cardiopathy, and epidermolysis bullosa syndrome. Patients with alopecia, cardiopathy, and epidermolysis bullosa syndrome normally present atrophic scars after wounds heal, which is rare in KRT14-related epidermolysis...
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