- Abstract:
-
K(ATP) channels regulate insulin secretion from pancreatic beta-cells. Loss- and gain-of-function mutations in the genes encoding the Kir6.2 and SUR1 subunits of this channel cause hyperinsulinism of infancy and neonatal diabetes, respectively. We report two novel mutations in the gating loop of Kir6.2 which cause neonatal diabetes with developmental delay (T293N) and hyperinsulinism (T294M). These mutations increase (T293N) or decrease (T294M) whole-cell K(ATP) currents, accounting for the d...
Expand abstract - Publication status:
- Published
- Publisher copy:
- 10.1002/emmm.200900018
-
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- Journal:
- EMBO molecular medicine
- Volume:
- 1
- Issue:
- 3
- Pages:
- 166-177
- Publication date:
- 2009-06-05
- DOI:
- EISSN:
-
1757-4684
- ISSN:
-
1757-4676
- URN:
-
uuid:8f6f6cc9-0500-4e74-8bd9-1287e8f713ec
- Source identifiers:
-
113683
- Local pid:
- pubs:113683
- Copyright date:
- 2009
Journal article
Adjacent mutations in the gating loop of Kir6.2 produce neonatal diabetes and hyperinsulinism.
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