Analysis of Trafficking, Stability and Function of Human Connexin 26 Gap Junction Channels with Deafness-Causing Mutations in the Fourth Transmembrane Helix

Human Connexin26 gene mutations cause hearing loss. These hereditary mutations are the leading cause of childhood deafness worldwide. Mutations in gap junction proteins (connexins) can impair intercellular communication by eliminating protein synthesis, mis-trafficking, or inducing channels that fai...

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Detalhes bibliográficos
Main Authors: Ambrosi, Cinzia, Walker, Amy E., DePriest, Adam D., Cone, Angela C., Lu, Connie, Badger, John, Skerrett, I. Martha, Sosinsky, Gina E.
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2013
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3744544/
https://ncbi.nlm.nih.gov/pubmed/23967136
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0070916
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