Article
Pathogenic Cx31 is un/misfolded to cause skin abnormality via a Fos/JunB-mediated mechanism.
Human molecular genetics - 1 Nov 2015
Tang Chengyuan, Chen Xiang, Chi Jingwei, Yang Dawei, Liu Shu, Liu Mujun, Pan Qian, Fan Jianbing, Wang Danling, Zhang Zhuohua
Abstract excerpt
Mutations in connexin-31 (Cx31) are associated with multiple human diseases, including familial erythrokeratodermia variabilis (EKV). The pathogenic mechanism of EKV-associated Cx31 mutants remains largely elusive. Here, we show that EKV-pathogenic Cx31 mutants are un/misfolded and temperature sensitive. In Drosophila, expression of pathogenic Cx31, but not wild-type Cx31, causes depigmentation and degeneration...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.