Trafficking Defect and Proteasomal Degradation Contribute to the Phenotype of a Novel KCNH2 Long QT Syndrome Mutation

The Kv11.1 (hERG) K(+) channel plays a fundamental role in cardiac repolarization. Missense mutations in KCNH2, the gene encoding Kv11.1, cause long QT syndrome (LQTS) and frequently cause channel trafficking-deficiencies. This study characterized the properties of a novel KCNH2 mutation discovered...

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Detalles Bibliográficos
Autores principales: Mihic, Anton, Chauhan, Vijay S., Gao, Xiaodong, Oudit, Gavin Y., Tsushima, Robert G.
Formato: Texto
Lenguaje:English
Publicado: Public Library of Science 2011
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3069070/
https://www.ncbi.nlm.nih.gov/pubmed/21483829
http://dx.doi.org/10.1371/journal.pone.0018273

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3069070/
https://www.ncbi.nlm.nih.gov/pubmed/21483829
http://dx.doi.org/10.1371/journal.pone.0018273

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