Evolutionary coupling analysis guides identification of mistrafficking-sensitive variants in cardiac K(+) channels: Validation with hERG

Loss of function (LOF) mutations of voltage sensitive K(+) channel proteins hERG (Kv11.1) and KCNQ1 (Kv7.1) account for the majority of instances of congenital Long QT Syndrome (cLQTS) with the dominant molecular phenotype being a mistrafficking one resulting from protein misfolding. We explored the...

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Detalles Bibliográficos
Autores principales: Zhang, Yihong, Grimwood, Amy L., Hancox, Jules C., Harmer, Stephen C., Dempsey, Christopher E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Pharmacology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9632996/
https://www.ncbi.nlm.nih.gov/pubmed/36339618
http://dx.doi.org/10.3389/fphar.2022.1010119

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9632996/
https://www.ncbi.nlm.nih.gov/pubmed/36339618
http://dx.doi.org/10.3389/fphar.2022.1010119

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