Article
Stabilizing mutations of KLHL24 ubiquitin ligase cause loss of keratin 14 and human skin fragility.
Nature genetics - 1 Dec 2016
Lin Zhimiao, Li Shuo, Feng Cheng, Yang Shang, Wang Huijun, Ma Danhui, Zhang Jing, Gou Mengting, Bu Dingfang, Zhang Tengjiang, Kong Xiaohui, Wang Xintong, Sarig Ofer, Ren Yali, Dai Lanlan, Liu Hankui, Zhang Jianguo, Li Fei, Hu Yongyan, Padalon-Brauch Gilly, Vodo Dan, Zhou Feng, Chen Ting, Deng Haiteng, Sprecher Eli, Yang Yong, Tan Xu
Abstract excerpt
Skin integrity is essential for protection from external stress and trauma. Defects in structural proteins such as keratins cause skin fragility, epitomized by epidermolysis bullosa (EB), a life-threatening disorder. Here we show that dominant mutations of KLHL24, encoding a cullin 3-RBX1 ubiquitin ligase substrate receptor, cause EB. We have identified start-codon mutations in the KLHL24 gene in five patients...
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