Rapid Characterization of the Functional and Pharmacological Consequences of Cantú Syndrome K(ATP) Channel Mutations in Intact Cells

Gain-of-function of K(ATP) channels, resulting from mutations in either KCNJ8 (encoding inward rectifier sub-family 6 [Kir6.1]) or ABCC9 (encoding sulphonylurea receptor [SUR2]), cause Cantú syndrome (CS), a channelopathy characterized by excess hair growth, coarse facial appearance, cardiomegaly, a...

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Detalles Bibliográficos
Autores principales: Gao, Jian, McClenaghan, Conor, Matreyek, Kenneth A., Grange, Dorothy K., Nichols, Colin G.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The American Society for Pharmacology and Experimental Therapeutics 2023
Materias:
Cardiovascular
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10449099/
https://www.ncbi.nlm.nih.gov/pubmed/37527933
http://dx.doi.org/10.1124/jpet.123.001659

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10449099/
https://www.ncbi.nlm.nih.gov/pubmed/37527933
http://dx.doi.org/10.1124/jpet.123.001659

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