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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Detalles Bibliográficos
Autores principales: Ambrosi, Cinzia, Walker, Amy E., DePriest, Adam D., Cone, Angela C., Lu, Connie, Badger, John, Skerrett, I. Martha, Sosinsky, Gina E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3744544/
https://www.ncbi.nlm.nih.gov/pubmed/23967136
http://dx.doi.org/10.1371/journal.pone.0070916

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3744544/
https://www.ncbi.nlm.nih.gov/pubmed/23967136
http://dx.doi.org/10.1371/journal.pone.0070916

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