Article
Mutations at the same residue (R50) of Kir6.2 (KCNJ11) that cause neonatal diabetes produce different functional effects.
Diabetes - 1 Jun 2006
Shimomura Kenju, Girard Christophe A J, Proks Peter, Nazim Joanna, Lippiat Jonathan D, Cerutti Franco, Lorini Renata, Ellard Sian, Hattersley Andrew T, Barbetti Fabrizio, Ashcroft Frances M
Abstract excerpt
Heterozygous mutations in the human Kir6.2 gene (KCNJ11), the pore-forming subunit of the ATP-sensitive K(+) channel (K(ATP) channel), are a common cause of neonatal diabetes. We identified a novel KCNJ11 mutation, R50Q, that causes permanent neonatal diabetes (PNDM) without neurological problems. We investigated the functional effects this mutation and another at the same residue (R50P) that led to PNDM in...
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