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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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Clinical Investigation 2021
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8021106/
https://www.ncbi.nlm.nih.gov/pubmed/33529173
http://dx.doi.org/10.1172/jci.insight.145934

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8021106/
https://www.ncbi.nlm.nih.gov/pubmed/33529173
http://dx.doi.org/10.1172/jci.insight.145934

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