Article
Connexin 26 (GJB2) mutations, causing KID Syndrome, are associated with cell death due to calcium gating deregulation.
Biochemical and biophysical research communications - 16 Apr 2010
Terrinoni Alessandro, Codispoti Andrea, Serra Valeria, Didona Biagio, Bruno Ernesto, Nisticò Robert, Giustizieri Michela, Alessandrini Marco, Campione Elena, Melino Gerry
Abstract excerpt
The autosomic dominant KID Syndrome (MIM 148210), due to mutations in GJB2 (connexin 26, Cx26), is an ectodermal dysplasia with erythematous scaly skin lesions, keratitis and severe bilateral sensorineural deafness. The Cx26 protein is a component of gap junction channels in epithelia, including the cochlea, which coordinates the exchange of molecules and ions. Here, we demonstrate that different Cx26 mutants...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.