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Functional effects of mutations at F35 in the NH2-terminus of Kir6.2 (KCNJ11), causing neonatal diabetes, and response to sulfonylurea therapy.

Abstract:

Heterozygous mutations in the human Kir6.2 gene (KCNJ11), the pore-forming subunit of the ATP-sensitive K(+) channel (K(ATP) channel), cause neonatal diabetes. To date, all mutations increase whole-cell K(ATP) channel currents by reducing channel inhibition by MgATP. Here, we provide functional characterization of two mutations (F35L and F35V) at residue F35 of Kir6.2, which lies within the NH(2)-terminus. We further show that the F35V patient can be successfully transferred from insulin to s...

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Publication status:
Published

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Publisher copy:
10.2337/db05-1420

Authors


Njølstad, PR More by this author
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Institution:
University of Oxford
Department:
Oxford, MSD, Physiology Anatomy and Genetics
Journal:
Diabetes
Volume:
55
Issue:
6
Pages:
1731-1737
Publication date:
2006-06-05
DOI:
EISSN:
1939-327X
ISSN:
0012-1797
URN:
uuid:74ec3683-7595-46e9-835f-6e51ca7be88e
Source identifiers:
113917
Local pid:
pubs:113917

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