Kir6.1- and SUR2-dependent KATP overactivity disrupts intestinal motility in murine models of Cantú syndrome

Kir6.1- and SUR2-dependent KATP overactivity disrupts intestinal motility in murine models of Cantú syndrome

Cantú syndrome (CS), caused by gain-of-function (GOF) mutations in pore-forming (Kir6.1, KCNJ8) and accessory (SUR2, ABCC9) ATP-sensitive potassium (KATP) channel subunit genes, is frequently accompanied by gastrointestinal (GI) dysmotility, and we describe 1 CS patient who required an implanted int...

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Bibliographic Details
Main Authors: Nathaniel W. York, Helen Parker, Zili Xie, David Tyus, Maham Akbar Waheed, Zihan Yan, Dorothy K. Grange, Maria Sara Remedi, Sarah K. England, Hongzhen Hu, Colin G. Nichols
Format: Article
Language:English
Published: American Society for Clinical investigation 2020-12-01
Series:JCI Insight
Subjects:
Gastroenterology
Muscle biology
Online Access:https://doi.org/10.1172/jci.insight.141443

Internet

https://doi.org/10.1172/jci.insight.141443

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