García, Isaac EPrado, PavelPupo, AmauryJara, OscarRojas-Gómez, DianaMujica, PaulaFlores-Muñoz, CarolinaGonzález-Casanova, JorgeSoto-Riveros, CarolinaPinto, Bernardo IRetamal, Mauricio A.González, CarlosMartínez, Agustín D2021-12-282021-12-282016García IE, Prado P, Pupo A, Jara O, Rojas-Gómez D, Mujica P, Flores-Muñoz C, González-Casanova J, Soto-Riveros C, Pinto BI, Retamal MA, González C, Martínez AD. Connexinopathies: a structural and functional glimpse. BMC Cell Biol. 2016 May 24;17 Suppl 1(Suppl 1):17http://dx.doi.org/10.1186/s12860-016-0092-xhttp://hdl.handle.net/11447/5300Mutations 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.en-USConnexinsHemichannelsGap junction channelsSstructure and functionHuman genetic diseaseArticle