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Article

A Cantú syndrome mutation produces dual effects on KATP channels by disrupting ankyrin B regulation.

The Journal of general physiology - 2 Jan 2023

Crespo-García Teresa, Rubio-Alarcón Marcos, Cámara-Checa Anabel, Dago María, Rapún Josu, Nieto-Marín Paloma, Marín María, Cebrián Jorge, Tamargo Juan, Delpón Eva, Caballero Ricardo

Abstract excerpt

ATP-sensitive potassium (KATP) channels composed of Kir6.x and sulfonylurea receptor (SURs) subunits couple cellular metabolism to electrical activity. Cantú syndrome (CS) is a rare disease caused by mutations in the genes encoding Kir6.1 (KCNJ8) and SUR2A (ABCC9) that produce KATP channel hyperactivity due to a reduced channel block by physiological ATP concentrations. We functionally characterized the p.S1054Y...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 36287534
DOI: 10.1085/jgp.202112995
PMCID: PMC9614705

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A Cantú syndrome mutation produces dual effects on KATP channels by disrupting ankyrin B regulation.PMID 36287534Read ↗

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