Stabilizing mutations of KLHL24 ubiquitin ligase cause loss of keratin 14 and human skin fragility

被引：0

作者：

Zhimiao Lin

Shuo Li

Cheng Feng

Shang Yang

Huijun Wang

Danhui Ma

Jing Zhang

Mengting Gou

Dingfang Bu

Tengjiang Zhang

Xiaohui Kong

Xintong Wang

Ofer Sarig

Yali Ren

Lanlan Dai

Hankui Liu

Jianguo Zhang

Fei Li

Yongyan Hu

Gilly Padalon-Brauch

Dan Vodo

Feng Zhou

Ting Chen

Haiteng Deng

Eli Sprecher

Yong Yang

Xu Tan

机构：

[1] Peking University First Hospital,Department of Dermatology

[2] Beijing Key Laboratory of Molecular Diagnosis on Dermatoses,Department of Dermatology, Department of Human Molecular Genetics and Biochemistry

[3] School of Pharmaceutical Sciences,undefined

[4] Center for Infectious Disease Research,undefined

[5] School of Medicine,undefined

[6] Tsinghua University,undefined

[7] Tsinghua-Peking Center for Life Sciences,undefined

[8] Peking-Tsinghua Center for Life Sciences,undefined

[9] Tel Aviv Sourasky Medical Centre,undefined

[10] Sackler Faculty of Medicine,undefined

[11] Tel Aviv University,undefined

[12] Laboratory of Electron Microscopy,undefined

[13] Peking University First Hospital,undefined

[14] BGI-Shenzhen,undefined

[15] National Institute of Biological Sciences,undefined

[16] Laboratory Animal Facility,undefined

[17] Peking University First Hospital,undefined

[18] Institutes of Biomedical Sciences,undefined

[19] Shanghai Medical College of Fudan University,undefined

[20] MOE Key Laboratory of Bioinformatics,undefined

[21] School of Life Sciences and Centre of Biomedical Analysis,undefined

[22] Tsinghua University,undefined

来源：

Nature Genetics | 2016年 / 48卷

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摘要：

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.

引用

页码：1508 / 1516

页数：8

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