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Journal article

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

Abstract:

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, the I296L mutation also results in developmental delay, muscle weakness and epilepsy. We investigated the functional effects of the I296L mutation by expressing wild-type or mutant Kir6.2/SUR1 cha...

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Publication status:
Published

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Publisher copy:
10.1038/sj.embor.7400393

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Institution:
University of Oxford
Department:
Oxford, MSD, RDM, OCDEM
Hattersley, AT More by this author
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Journal:
EMBO reports
Volume:
6
Issue:
5
Pages:
470-475
Publication date:
2005-05-05
DOI:
EISSN:
1469-3178
ISSN:
1469-221X
URN:
uuid:b0ef7b68-b0ac-45c1-aba5-41e0db07b977
Source identifiers:
4716
Local pid:
pubs:4716

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