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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Auteurs principaux: Koster, Joseph C., Cadario, Francesco, Peruzzi, Cinzia, Colombo, Carlo, Nichols, Colin G., Barbetti, Fabrizio
Format: Artigo
Langue:Inglês
Publié: The Endocrine Society 2008
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Original Article
Accès en ligne: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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