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Mutations of the same conserved glutamate residue in NBD2 of the sulfonylurea receptor 1 subunit of the KATP channel can result in either hyperinsulinism or neonatal diabetes.

Abstract:

OBJECTIVE Two novel mutations (E1506D, E1506G) in the nucleotide-binding domain 2 (NBD2) of the ATP-sensitive K+ channel (KATP channel) sulfonylurea receptor 1 (SUR1) subunit were detected heterozygously in patients with neonatal diabetes. A mutation at the same residue (E1506K) was previously shown to cause congenital hyperinsulinemia. We sought to understand why mutations at the same residue can cause either neonatal diabetes or hyperinsulinemia.

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Publication status:
Published
Peer review status:
Peer reviewed
Version:
Publisher's version

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Publisher copy:
10.2337/db10-1583

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Institution:
University of Bristol
Department:
Oxford, MSD, Physiology Anatomy and Genetics
Role:
Author
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Institution:
University of Bristol
Department:
Oxford, MSD, Physiology Anatomy and Genetics
Role:
Author
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Funding agency for:
Ashcroft, FM
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Grant:
LSHM-CT-2006-518153
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Publisher:
American Diabetes Association Publisher's website
Journal:
Diabetes Journal website
Volume:
60
Issue:
6
Pages:
1813-1822
Publication date:
2011-06-05
DOI:
EISSN:
1939-327X
ISSN:
0012-1797
URN:
uuid:9206fcf2-6cf2-4e82-a0c9-fb811e078bd0
Source identifiers:
159373
Local pid:
pubs:159373

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