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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...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | J Biol Chem |
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| Κύριοι συγγραφείς: | , , , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
American Society for Biochemistry and Molecular Biology
2018
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| Θέματα: | |
| Διαθέσιμο Online: | 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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