Complex consequences of Cantu syndrome SUR2 variant R1154Q in genetically modified mice

Cantu syndrome (CS) is caused by gain-of-function (GOF) mutations in pore-forming (Kir6.1, KCNJ8) and accessory (SUR2, ABCC9) ATP-sensitive potassium (K(ATP)) channel subunits, the most common mutations being SUR2[R1154Q] and SUR2[R1154W], carried by approximately 30% of patients. We used CRISPR/Cas...

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Опубликовано в: :JCI Insight
Главные авторы: Zhang, Haixia, Hanson, Alex, de Almeida, Tobias Scherf, Emfinger, Christopher, McClenaghan, Conor, Harter, Theresa, Yan, Zihan, Cooper, Paige E., Brown, G. Schuyler, Arakel, Eric C., Mecham, Robert P., Kovacs, Atilla, Halabi, Carmen M., Schwappach, Blanche, Remedi, Maria S., Nichols, Colin G.
Формат: Artigo
Язык:Inglês
Опубликовано: American Society for Clinical Investigation 2021
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Research Article
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC8021106/
https://ncbi.nlm.nih.gov/pubmed/33529173
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/jci.insight.145934
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