Visualizing Mutation-Specific Differences in the Trafficking-Deficient Phenotype of Kv11.1 Proteins Linked to Long QT Syndrome Type 2

KCNH2 encodes the Kv11.1 α-subunit that underlies the rapidly activating delayed-rectifier K(+) current in the heart. Loss-of-function KCNH2 mutations cause long QT syndrome type 2 (LQT2), and most LQT2-linked missense mutations inhibit the trafficking of Kv11.1 channel protein to the cell surface m...

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Publicado en:Front Physiol
Autores principales: Hall, Allison R., Anderson, Corey L., Smith, Jennifer L., Mirshahi, Tooraj, Elayi, Claude S., January, Craig T., Delisle, Brian P.
Formato: Artigo
Lenguaje:Inglês
Publicado: Frontiers Media S.A. 2018
Materias:
Physiology
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC5974211/
https://ncbi.nlm.nih.gov/pubmed/29875689
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fphys.2018.00584
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