Functional effects of KCNJ11 mutations causing neonatal diabetes: enhanced activation by MgATP.

Journal article

Recent studies have shown that heterozygous mutations in KCNJ11, which encodes Kir6.2, the pore-forming subunit of the ATP-sensitive potassium (K(ATP)) channel, cause permanent neonatal diabetes either alone (R201C, R201H) or in association with developmental delay, muscle weakness and epilepsy (V59G,V59M). Functional analysis in the absence of Mg2+, to isolate the inhibitory effects of ATP on Kir6.2, showed that both types of mutation reduce channel inhibition by ATP. However, in pancreatic ...

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Authors: Proks, P; Girard, C; Ashcroft, F

• Publication status: Published
• Journal: Human molecular genetics
• Volume: 14
• Issue: 18
• Pages: 2717-2726
• Publication date: 2005-09-01
• DOI: 10.1093/hmg/ddi305
• EISSN: 1460-2083
• ISSN: 0964-6906
• Language: English
• Keywords: Oocytes; Mutation; Humans; ATP-Binding Cassette Transporters; Animals; Potassium Channels; Mutagenesis, Site-Directed; Xenopus laevis; Potassium Channels, Inwardly Rectifying; Adenosine Triphosphate; Diabetes Mellitus, Type 1; Patch-Clamp Techniques; Receptors, Drug