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

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 <i>ABCC9</i> and <i>KCNJ8</i> genes, which encode ATP-sensitive K<sup>+</sup> (KATP) channel subunits SUR2 and Kir6.1, respectively. Most CS patients have mutations in SUR2, th...

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Bibliographic Details
Main Authors: Rosa Scala, Fatima Maqoud, Nicola Zizzo, Giuseppe Passantino, Antonietta Mele, Giulia Maria Camerino, Conor McClenaghan, Theresa M. Harter, Colin G. Nichols, Domenico Tricarico
Format: Article
Language:English
Published: MDPI AG 2021-07-01
Series:Cells
Subjects:
ATP-sensitive potassium channel
Cantu syndrome
glibenclamide
histopathology
patch-clamp
rare disease
Online Access:https://www.mdpi.com/2073-4409/10/7/1791

Internet

https://www.mdpi.com/2073-4409/10/7/1791

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