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Article

Rapid Characterization of the Functional and Pharmacological Consequences of Cantú Syndrome KATP Channel Mutations in Intact Cells.

The Journal of pharmacology and experimental therapeutics - 1 Sept 2023

Gao Jian, McClenaghan Conor, Matreyek Kenneth A, Grange Dorothy K, Nichols Colin G

Abstract excerpt

Gain-of-function of KATP channels, resulting from mutations in either KCNJ8 (encoding inward rectifier sub-family 6 [Kir6.1]) or ABCC9 (encoding sulphonylurea receptor [SUR2]), cause Cantú syndrome (CS), a channelopathy characterized by excess hair growth, coarse facial appearance, cardiomegaly, and lymphedema. Here, we established a pipeline for rapid analysis of CS mutation consequences in Landing pad HEK 293...

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Identifiers

PMID: 37527933
DOI: 10.1124/jpet.123.001659
PMCID: PMC10449099

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Rapid Characterization of the Functional and Pharmacological Consequences of Cantú Syndrome KATP Channel Mutations in Intact Cells.PMID 37527933Read ↗

Cantú syndrome resulting from activating mutation in the KCNJ8 gene.Semantic proximity Read ↗

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

Cantu syndrome–associated SUR2 (ABCC9) mutations in distinct structural domains result in KATP channel gain-of-function by differential mechanismsSemantic proximity Read ↗

Kir6.1 and SUR2B in Cantú syndromeSemantic proximity Read ↗

Methods for Characterizing Disease-Associated ATP-Sensitive Potassium Channel Mutations.Semantic proximity Read ↗

Cantu syndrome-associated SUR2 ( <i>ABCC9</i> ) mutations in distinct structural domains result in K <sub>ATP</sub> channel gain-of-function by differential mechanismsSemantic proximity Read ↗

Dominant missense mutations in ABCC9 cause Cantú syndrome.Semantic proximity Read ↗

A novel ABCC9 variant in a Greek family with Cantu syndrome affecting multiple generations highlights the functional role of the SUR2B NBD1.Semantic proximity Read ↗

The Shifting Landscape of K<sub>Atp</sub>Channelopathies and the Need for ‘Sharper’ TherapeuticsSemantic proximity Read ↗

Cantú syndrome is caused by mutations in ABCC9.Semantic proximity Read ↗

Consequences of SUR2[A478V] Mutation in Skeletal Muscle of Murine Model of Cantu Syndrome.Semantic proximity Read ↗

ABCC9-related Intellectual disability Myopathy Syndrome is a KATP channelopathy with loss-of-function mutations in ABCC9Semantic proximity Read ↗

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