Article
The G53D mutation in Kir6.2 (KCNJ11) is associated with neonatal diabetes and motor dysfunction in adulthood that is improved with sulfonylurea therapy.
The Journal of clinical endocrinology and metabolism - 1 Mar 2008
Koster Joseph C, Cadario Francesco, Peruzzi Cinzia, Colombo Carlo, Nichols Colin G, Barbetti Fabrizio
Abstract excerpt
CONTEXT: Mutations in the Kir6.2 subunit (KCNJ11) of the ATP-sensitive potassium channel (KATP) 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 KATP, which is predicted to suppress electrical activity in neurons (peripheral and central), muscle, and pancreas....
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.