Cantu syndrome–associated SUR2 (ABCC9) mutations in distinct structural domains result in K(ATP) channel gain-of-function by differential mechanisms

The complex disorder Cantu syndrome (CS) arises from gain-of-function mutations in either KCNJ8 or ABCC9, the genes encoding the Kir6.1 and SUR2 subunits of ATP-sensitive potassium (K(ATP)) channels, respectively. Recent reports indicate that such mutations can increase channel activity by multiple...

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Foilsithe in:J Biol Chem
Main Authors: McClenaghan, Conor, Hanson, Alex, Sala-Rabanal, Monica, Roessler, Helen I., Josifova, Dragana, Grange, Dorothy K., van Haaften, Gijs, Nichols, Colin G.
Formáid: Artigo
Teanga:Inglês
Foilsithe: American Society for Biochemistry and Molecular Biology 2018
Ábhair:
Membrane Biology
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC5808765/
https://ncbi.nlm.nih.gov/pubmed/29275331
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.RA117.000351
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