Connexinopathies: a structural and functional glimpse |
| |
Authors: | 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 |
| |
Institution: | 1.Centro Interdisciplinario de Neurociencia de Valparaíso,Instituto de Neurociencia, Facultad de Ciencias, Universidad de Valparaíso,Valparaíso,Chile;2.Centro de Fisiología Celular e Integrativa, Facultad de Medicina,Clínica Alemana Universidad del Desarrollo,Santiago,Chile |
| |
Abstract: | 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. |
| |
Keywords: | |
本文献已被 SpringerLink 等数据库收录! |
|