Article
Connexinopathies: a structural and functional glimpse.
BMC cell biology - 24 May 2016
García Isaac E, Prado Pavel, Pupo Amaury, Jara Oscar, Rojas-Gómez Diana, Mujica Paula, Flores-Muñoz Carolina, González-Casanova Jorge, Soto-Riveros Carolina, Pinto Bernardo I, Retamal Mauricio A, González Carlos, Martínez Agustín D
Abstract excerpt
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...
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