Kir6.2 mutations associated with neonatal diabetes reduce expression of ATP-sensitive K+ channels: implications in disease mechanism and sulfonylurea therapy.

Abstract excerpt

Heterozygous missense mutations in the pore-forming subunit Kir6.2 of ATP-sensitive K(+) channels (K(ATP) channels) have recently been shown to cause permanent neonatal diabetes mellitus (PNDM). Functional studies demonstrated that PNDM mutations reduce K(ATP) channel sensitivity to ATP inhibition, resulting in gain of channel function. However, the impact of these mutations on channel expression has not been...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Adenosine Triphosphate
• Share to Chlorocebus aethiops