Connexinopathies: A structural and functional glimpse

Isaac E. García, Pavel Prado, Amaury Pupo, Oscar Jara, Diana Rojas-Gómez, Paula Mujica, Carolina Flores-Muñoz, Jorge González-Casanova, Carolina Soto-Riveros, Bernardo I. Pinto, Mauricio A. Retamal, Carlos González, Agustín D. Martínez

Resultado de la investigación: Contribución a una revistaArtículo de revisiónrevisión exhaustiva

25 Citas (Scopus)

Resumen

Mutations in human connexin (Cx) genes have been related to diseases, which we termed connexinopathies. Such hereditary disorders include nonsyndromic or syndromic deafness (Cx26, Cx30), Charcot Marie Tooth disease (Cx32), occulodentodigital dysplasia and cardiopathies (Cx43), and cataracts (Cx46, Cx50). Despite the clinical phenotypes of connexinopathies have been well documented, their pathogenic molecular determinants remain elusive. The purpose of this work is to identify common/uncommon patterns in channels function among Cx mutations linked to human diseases. To this end, we compiled and discussed the effect of mutations associated to Cx26, Cx32, Cx43, and Cx50 over gap junction channels and hemichannels, highlighting the function of the structural channel domains in which mutations are located and their possible role affecting oligomerization, gating and perm/selectivity processes.

Idioma originalInglés
Número de artículo17
PublicaciónBMC Cell Biology
Volumen17
N.º1
DOI
EstadoPublicada - 24 may 2016

Áreas temáticas de ASJC Scopus

  • Biología celular

Huella

Profundice en los temas de investigación de 'Connexinopathies: A structural and functional glimpse'. En conjunto forman una huella única.

Citar esto