Associated Papers
Muscle fatigue arising intrinsically from SUR2- but not Kir6.1-dependent gain-of-function in Cantu syndrome mice.
Scala R et al.
The Journal of General Physiology, 2025
Control of neurovascular coupling by ATP-sensitive potassium channels.
Bowen RM et al.
Journal of Cerebral Blood Flow and Metabolism : Official Journal of the International Society of Cerebral Blood Flow and Metabolism, 2025
Bayliss-Starling Prize Lecture: KATP channel pathophysiology - a whole-body odyssey.
Nichols CG
The Journal of Physiology, 2025
Gain-of-function mutations in KATP channel subunits compromise colonic tight junction integrity and epithelial homeostasis in murine models of Cantú syndrome.
Maqoud F et al.
Frontiers in Medicine, 2025
Electrophysiology of Human iPSC-derived Vascular Smooth Muscle Cells and Cell-autonomous Consequences of Cantú Syndrome Mutations.
Hanson A et al.
Function (oxford, England), 2024
Mitochondrial Ca2+-coupled generation of reactive oxygen species, peroxynitrite formation, and endothelial dysfunction in Cantú syndrome.
Metwally E et al.
Jci Insight, 2024
Rapid Characterization of the Functional and Pharmacological Consequences of Cantú Syndrome KATP Channel Mutations in Intact Cells.
Gao J et al.
The Journal of Pharmacology and Experimental Therapeutics, 2023
Electrophysiology of human iPSC-derived vascular smooth muscle cells and cell autonomous consequences of Cantu Syndrome mutations.
Hanson A et al.
Biorxiv : the Preprint Server for Biology, 2023
Zoledronic Acid Blocks Overactive Kir6.1/SUR2-Dependent KATP Channels in Skeletal Muscle and Osteoblasts in a Murine Model of Cantú Syndrome.
Scala R et al.
Cells, 2023
Personalized Therapeutics for KATP-Dependent Pathologies.
Nichols CG
Annual Review of Pharmacology and Toxicology, 2023
Lymphatic contractile dysfunction in mouse models of Cantú Syndrome with KATP channel gain-of-function.
Davis MJ et al.
Function (oxford, England), 2023
Kir6.1 and SUR2B in Cantú syndrome.
McClenaghan C et al.
American Journal of Physiology. Cell Physiology, 2022
Cantù syndrome: Report of a patient with a novel variant in KCNJ8 and revision of literature.
Apuril Velgara ES et al.
American Journal of Medical Genetics. Part A, 2022
Determinants of trafficking, conduction, and disease within a K+ channel revealed through multiparametric deep mutational scanning.
Coyote-Maestas W et al.
Elife, 2022
ATP-sensitive potassium channels in zebrafish cardiac and vascular smooth muscle.
Singareddy SS et al.
The Journal of Physiology, 2022
Vascular KATP channel structural dynamics reveal regulatory mechanism by Mg-nucleotides.
Sung MW et al.
Proceedings of the National Academy of Sciences of the United States of America, 2021
Consequences of SUR2[A478V] Mutation in Skeletal Muscle of Murine Model of Cantu Syndrome.
Scala R et al.
Cells, 2021
A data-driven architecture using natural language processing to improve phenotyping efficiency and accelerate genetic diagnoses of rare disorders.
Parikh JR et al.
Hgg Advances, 2021
Complex consequences of Cantu syndrome SUR2 variant R1154Q in genetically modified mice.
Zhang H et al.
Jci Insight, 2021
Kir6.1- and SUR2-dependent KATP overactivity disrupts intestinal motility in murine models of Cantú syndrome.
York NW et al.
Jci Insight, 2020
A novel mutation in the KCNJ8 gene encoding the Kir6.1 subunit of an ATP-sensitive potassium channel in a Japanese patient with Cantú syndrome.
Chihara M et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2020
Glibenclamide reverses cardiovascular abnormalities of Cantu syndrome driven by KATP channel overactivity.
McClenaghan C et al.
The Journal of Clinical Investigation, 2020
The Mechanism of High-Output Cardiac Hypertrophy Arising From Potassium Channel Gain-of-Function in Cantú Syndrome.
McClenaghan C et al.
Function (oxford, England), 2020
Pathophysiological Consequences of KATP Channel Overactivity and Pharmacological Response to Glibenclamide in Skeletal Muscle of a Murine Model of Cantù Syndrome.
Scala R et al.
Frontiers in Pharmacology, 2020
Modeling Inherited Cardiomyopathies in Adult Zebrafish for Precision Medicine.
Ding Y et al.
Frontiers in Physiology, 2020
Effective CRISPR/Cas9-based nucleotide editing in zebrafish to model human genetic cardiovascular disorders.
Tessadori F et al.
Disease Models & Mechanisms, 2018
Cardiovascular consequences of KATP overactivity in Cantu syndrome.
Huang Y et al.
Jci Insight, 2018
Cantu syndrome-associated SUR2 (ABCC9) mutations in distinct structural domains result in KATP channel gain-of-function by differential mechanisms.
McClenaghan C et al.
The Journal of Biological Chemistry, 2018
Conserved functional consequences of disease-associated mutations in the slide helix of Kir6.1 and Kir6.2 subunits of the ATP-sensitive potassium channel.
Cooper PE et al.
The Journal of Biological Chemistry, 2017
Cantú syndrome resulting from activating mutation in the KCNJ8 gene.
Cooper PE et al.
Human Mutation, 2014
Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities - support for the role of K(ATP) channels in this condition.
Brownstein CA et al.
European Journal of Medical Genetics, 2013