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Journal article

Molecular basis of Kir6.2 mutations associated with neonatal diabetes or neonatal diabetes plus neurological features.

Abstract:

Inwardly rectifying potassium channels (Kir channels) control cell membrane K(+) fluxes and electrical signaling 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 (PNDM). For some mutations, PNDM is accompanied by marked developmental delay, muscle weakness, and epilepsy (severe disease). To determine the molecular basis of these different phenotypes, we ex...

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Publication status:
Published

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Publisher copy:
10.1073/pnas.0404756101

Authors


Antcliff, JF More by this author
Lippiat, J More by this author
More by this author
Institution:
University of Oxford
Department:
Oxford, MSD, RDM, OCDEM
Hattersley, AT More by this author
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Journal:
Proceedings of the National Academy of Sciences of the United States of America
Volume:
101
Issue:
50
Pages:
17539-17544
Publication date:
2004-12-05
DOI:
EISSN:
1091-6490
ISSN:
0027-8424
URN:
uuid:02115729-47fb-4169-84c3-ff49db08e762
Source identifiers:
27047
Local pid:
pubs:27047

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