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The G53D Mutation in Kir6.2 (KCNJ11) Is Associated with Neonatal Diabetes and Motor Dysfunction in Adulthood that Is Improved with Sulfonylurea Therapy
Context: Mutations in the Kir6.2 subunit (KCNJ11) of the ATP-sensitive potassium channel (K(ATP)) underlie neonatal diabetes mellitus. In severe cases, Kir6.2 mutations underlie developmental delay, epilepsy, and neonatal diabetes (DEND). All Kir6.2 mutations examined decrease the ATP inhibition of...
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| Glavni autori: | , , , , , |
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| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
The Endocrine Society
2008
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| Teme: | |
| Online pristup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2266958/ https://ncbi.nlm.nih.gov/pubmed/18073297 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2007-1826 |
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