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

@article{Lin2006Kir62MA,
  title={Kir6.2 mutations associated with neonatal diabetes reduce expression of ATP-sensitive K+ channels: implications in disease mechanism and sulfonylurea therapy.},
  author={Chia-Wei Lin and Yu-Wen Lin and Fei-Fei Yan and Jillene Casey and Malini Kochhar and Emily B. Pratt and Show-Ling Shyng},
  journal={Diabetes},
  year={2006},
  volume={55 6},
  pages={
          1738-46
        }
}
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 examined. Here, we show that PNDM mutations, including Q52R, V59G, V59M, R201C, R201H… CONTINUE READING

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