Article
Trafficking abnormality and ER stress underlie functional deficiency of hearing impairment-associated connexin-31 mutants.
Protein & cell - 1 Oct 2010
Xia Kun, Ma Hong, Xiong Hui, Pan Qian, Huang Liangqun, Wang Danling, Zhang Zhuohua
Abstract excerpt
Hearing impairment (HI) affects 1/1000 children and over 2% of the aged population. We have previously reported that mutations in the gene encoding gap junction protein connexin-31 (C×31) are associated with HI. The pathological mechanism of the disease mutations remains unknown. Here, we show that expression of C×31 in the mouse inner ear is developmentally regulated with a high level in adult inner hair cells...
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