title: Connexinopathies: a structural and functional glimpse.
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.
authors.affiliation: Centro Interdisciplinario de Neurociencia de Valparaíso, Instituto de Neurociencia, Facultad de Ciencias, Universidad de Valparaíso, Valparaíso, Chile.
authors.forename: Isaac E
authors.initials: IE
authors.lastname: García
authors.affiliation: Centro Interdisciplinario de Neurociencia de Valparaíso, Instituto de Neurociencia, Facultad de Ciencias, Universidad de Valparaíso, Valparaíso, Chile.
authors.forename: Pavel
authors.initials: P
authors.lastname: Prado
authors.affiliation: Centro Interdisciplinario de Neurociencia de Valparaíso, Instituto de Neurociencia, Facultad de Ciencias, Universidad de Valparaíso, Valparaíso, Chile.
authors.forename: Amaury
authors.initials: A
authors.lastname: Pupo
authors.affiliation: Centro Interdisciplinario de Neurociencia de Valparaíso, Instituto de Neurociencia, Facultad de Ciencias, Universidad de Valparaíso, Valparaíso, Chile.
authors.forename: Oscar
authors.initials: O
authors.lastname: Jara
authors.affiliation: Centro Interdisciplinario de Neurociencia de Valparaíso, Instituto de Neurociencia, Facultad de Ciencias, Universidad de Valparaíso, Valparaíso, Chile.
authors.forename: Diana
authors.initials: D
authors.lastname: Rojas-Gómez
authors.affiliation: Centro Interdisciplinario de Neurociencia de Valparaíso, Instituto de Neurociencia, Facultad de Ciencias, Universidad de Valparaíso, Valparaíso, Chile.
authors.forename: Paula
authors.initials: P
authors.lastname: Mujica
authors.affiliation: Centro Interdisciplinario de Neurociencia de Valparaíso, Instituto de Neurociencia, Facultad de Ciencias, Universidad de Valparaíso, Valparaíso, Chile.
authors.forename: Carolina
authors.initials: C
authors.lastname: Flores-Muñoz
authors.affiliation: Centro Interdisciplinario de Neurociencia de Valparaíso, Instituto de Neurociencia, Facultad de Ciencias, Universidad de Valparaíso, Valparaíso, Chile.
authors.forename: Jorge
authors.initials: J
authors.lastname: González-Casanova
authors.affiliation: Centro Interdisciplinario de Neurociencia de Valparaíso, Instituto de Neurociencia, Facultad de Ciencias, Universidad de Valparaíso, Valparaíso, Chile.
authors.forename: Carolina
authors.initials: C
authors.lastname: Soto-Riveros
authors.affiliation: Centro Interdisciplinario de Neurociencia de Valparaíso, Instituto de Neurociencia, Facultad de Ciencias, Universidad de Valparaíso, Valparaíso, Chile.
authors.forename: Bernardo I
authors.initials: BI
authors.lastname: Pinto
authors.affiliation: Centro de Fisiología Celular e Integrativa, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago, Chile.
authors.forename: Mauricio A
authors.initials: MA
authors.lastname: Retamal
authors.affiliation: Centro Interdisciplinario de Neurociencia de Valparaíso, Instituto de Neurociencia, Facultad de Ciencias, Universidad de Valparaíso, Valparaíso, Chile.
authors.forename: Carlos
authors.initials: C
authors.lastname: González
authors.affiliation: Centro Interdisciplinario de Neurociencia de Valparaíso, Instituto de Neurociencia, Facultad de Ciencias, Universidad de Valparaíso, Valparaíso, Chile. agustin.martinez@uv.cl.
authors.forename: Agustín D
authors.initials: AD
authors.lastname: Martínez
mesh_terms: D000818:Animals; D053447:Channelopathies / Q000235:genetics / Q000378:metabolism*; D017630:Connexins / Q000737:chemistry* / Q000235:genetics / Q000378:metabolism*; D017629:Gap Junctions / Q000378:metabolism; D006801:Humans; D015640:Ion Channel Gating; D008958:Models, Molecular; D009154:Mutation / Q000235:genetics
chemical_list: D017630:Connexins
keywords: Connexins; gap junction channels; hemichannels; human genetic disease; structure and function