Mutations of the Same Conserved Glutamate Residue in NBD2 of the Sulfonylurea Receptor 1 Subunit of the K(ATP) Channel Can Result in Either Hyperinsulinism or Neonatal Diabetes

OBJECTIVE: Two novel mutations (E1506D, E1506G) in the nucleotide-binding domain 2 (NBD2) of the ATP-sensitive K(+) channel (K(ATP) channel) sulfonylurea receptor 1 (SUR1) subunit were detected heterozygously in patients with neonatal diabetes. A mutation at the same residue (E1506K) was previously...

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Bibliographic Details
Main Authors:	Männikkö, Roope, Flanagan, Sarah E., Sim, Xiuli, Segal, David, Hussain, Khalid, Ellard, Sian, Hattersley, Andrew T., Ashcroft, Frances M.
Format:	Artigo
Language:	Inglês
Published:	American Diabetes Association 2011
Subjects:	Genetics
Online Access:	https://ncbi.nlm.nih.gov/pmc/articles/PMC3114383/ https://ncbi.nlm.nih.gov/pubmed/21617188 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2337/db10-1583
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Mutations of the Same Conserved Glutamate Residue in NBD2 of the Sulfonylurea Receptor 1 Subunit of the K(ATP) Channel Can Result in Either Hyperinsulinism or Neonatal Diabetes

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