Connexinopathies: a structural and functional glimpse View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2016-12

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

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. More... »

PAGES

s17

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  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1186/s12860-016-0092-x

    DOI

    http://dx.doi.org/10.1186/s12860-016-0092-x

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1000463234

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/27228968


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