Article
Neonatal diabetes caused by mutations in sulfonylurea receptor 1: interplay between expression and Mg-nucleotide gating defects of ATP-sensitive potassium channels.
The Journal of clinical endocrinology and metabolism - 1 Dec 2010
Zhou Qing, Garin Intza, Castaño Luis, Argente Jesús, Muñoz-Calvo Ma Teresa, Perez de Nanclares Guiomar, Shyng Show-Ling
Abstract excerpt
CONTEXT: ATP-sensitive potassium (KATP) channels regulate insulin secretion by coupling glucose metabolism to β-cell membrane potential. Gain-of-function mutations in the sulfonylurea receptor 1 (SUR1) or Kir6.2 channel subunit underlie neonatal diabetes. OBJECTIVE: The objective of the study was to determine the mechanisms by which two SUR1 mutations, E208K and V324M, associated with transient neonatal diabetes...
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