A gating mutation at the internal mouth of the Kir6.2 pore is associated with DEND syndrome.

A gating mutation at the internal mouth of the Kir6.2 pore is associated with DEND syndrome.

Inwardly rectifying potassium (Kir) channels control cell membrane K+ fluxes and electrical signalling in diverse cell types. Heterozygous mutations in the human Kir6.2 gene (KCNJ11), the pore-forming subunit of the ATP-sensitive (K(ATP)) channel, cause permanent neonatal diabetes mellitus. However,...

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Detalhes bibliográficos
Main Authors: Proks, P, Girard, C, Haider, S, Gloyn, A, Hattersley, A, Sansom, MS, Ashcroft, F
Formato: Journal article
Idioma:English
Publicado em: 2005

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