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Article

Consequences of SUR2[A478V] Mutation in Skeletal Muscle of Murine Model of Cantu Syndrome.

Cells - 15 Jul 2021

Scala Rosa, Maqoud Fatima, Zizzo Nicola, Passantino Giuseppe, Mele Antonietta, Camerino Giulia Maria, McClenaghan Conor, Harter Theresa M, Nichols Colin G, Tricarico Domenico

Abstract excerpt

(1) Background: Cantu syndrome (CS) arises from gain-of-function (GOF) mutations in the ABCC9 and KCNJ8 genes, which encode ATP-sensitive K+ (KATP) channel subunits SUR2 and Kir6.1, respectively. Most CS patients have mutations in SUR2, the major component of skeletal muscle KATP, but the consequences of SUR2 GOF in skeletal muscle are unknown. (2) Methods: We performed in vivo and ex vivo characterization of...

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Identifiers

PMID: 34359961
DOI: 10.3390/cells10071791
PMCID: PMC8307364

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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