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

(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 conseque...

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Bibliografiset tiedot
Julkaisussa:Cells
Päätekijät: Scala, Rosa, Maqoud, Fatima, Zizzo, Nicola, Passantino, Giuseppe, Mele, Antonietta, Camerino, Giulia Maria, McClenaghan, Conor, Harter, Theresa M., Nichols, Colin G., Tricarico, Domenico
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: MDPI 2021
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Article
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC8307364/
https://ncbi.nlm.nih.gov/pubmed/34359961
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/cells10071791
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