Gap-junctional channel and hemichannel activity of two recently identified connexin 26 mutants associated with deafness

Simple item page
dc.contributor.authorDalamon, Viviana
dc.contributor.authorFiori, Mariana
dc.contributor.authorFigueroa, Vania
dc.contributor.authorOliva, Carolina
dc.contributor.authorDel Río, Rodrigo
dc.contributor.authorGonzález, Wendy
dc.contributor.authorCanan, Jonathan
dc.contributor.authorElgoyhen, Ana
dc.contributor.authorAltenberg, Guillermo
dc.contributor.authorRetamal, Mauricio
dc.date.accessioned2017-01-03T19:08:28Z
dc.date.available2017-01-03T19:08:28Z
dc.date.issued2016
dc.descriptionCentro de Fisiología Celular e Integrativa
dc.description.abstractGap-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 GJCs with slightly altered voltage dependence and HCs with decrease ATP/cationic dye selectivity. G109V does not form functional GJCs, but forms functional HCs with enhanced extracellular Ca2+ sensitivity and subtle alterations in voltage dependence and ATP/cationic dye selectivity. Deafness associated with G109V could result from decreased GJCs activity, whereas deafness associated to L10P may have a more complex mechanism that involves changes in HC permeability.
dc.identifier.citationDalamon V, Fiori MC, Figueroa VA, Oliva CA, Del Rio R, Gonzalez W, Canan J, Elgoyhen AB, Altenberg GA, Retamal MA. Gap-junctional channel and hemichannel activity of two recently identified connexin 26 mutants associated with deafness. Pflugers Arch. 2016 May;468(5):909-18.
dc.identifier.urihttp://hdl.handle.net/11447/912
dc.identifier.urihttp://dx.doi.org/ 10.1007/s00424-016-1788-7
dc.language.isoen_US
dc.publisherSpringer
dc.subjectDeafness
dc.subjectHemichannels
dc.subjectConnexins
dc.subjectGap-junction channels
dc.subjectIon channel
dc.subjectMutation
dc.titleGap-junctional channel and hemichannel activity of two recently identified connexin 26 mutants associated with deafness
dc.typeArtículo

Files

Original bundle
Now showing 1 - 1 of 1
Thumbnail Image
Name:
Gap-junctional channel and hemichannel activity of two recently identified connexin 26 mutants associated with deafness.pdf
Size:
788.26 KB
Format:
Adobe Portable Document Format
Description:
Texto completo
Download

Collections

Artículos Medicina y Ciencias de la Salud

Implementado por OpenGeek Services