Article
Gap-junctional channel and hemichannel activity of two recently identified connexin 26 mutants associated with deafness.
Pflugers Archiv : European journal of physiology - 1 May 2016
Dalamon Viviana, Fiori Mariana C, Figueroa Vania A, Oliva Carolina A, Del Rio Rodrigo, Gonzalez Wendy, Canan Jonathan, Elgoyhen Ana B, Altenberg Guillermo A, Retamal Mauricio A
Abstract excerpt
Gap-junction channels (GJCs) are formed by head-to-head association of two hemichannels (HCs, connexin hexamers). HCs and GJCs are permeable to ions and hydrophilic molecules of up to Mr ~1 kDa. Hearing impairment of genetic origin is common, and mutations of connexin 26 (Cx26) are its major cause. We recently identified two novel Cx26 mutations in hearing-impaired subjects, L10P and G109V. L10P forms functional...
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