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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
6
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pubmed:dateCreated |
2011-5-27
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pubmed:abstractText |
Two novel mutations (E1506D, E1506G) in the nucleotide-binding domain 2 (NBD2) of the ATP-sensitive K(+) channel (K(ATP) 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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pubmed:grant |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Jun
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pubmed:issn |
1939-327X
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pubmed:author |
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pubmed:issnType |
Electronic
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pubmed:volume |
60
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1813-22
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pubmed:meshHeading |
pubmed-meshheading:21617188-ATP-Binding Cassette Transporters,
pubmed-meshheading:21617188-Animals,
pubmed-meshheading:21617188-Diabetes Mellitus,
pubmed-meshheading:21617188-Electrophysiology,
pubmed-meshheading:21617188-Glutamic Acid,
pubmed-meshheading:21617188-Humans,
pubmed-meshheading:21617188-Hyperinsulinism,
pubmed-meshheading:21617188-Infant, Newborn,
pubmed-meshheading:21617188-KATP Channels,
pubmed-meshheading:21617188-Male,
pubmed-meshheading:21617188-Mutagenesis, Site-Directed,
pubmed-meshheading:21617188-Mutation,
pubmed-meshheading:21617188-Potassium Channels, Inwardly Rectifying,
pubmed-meshheading:21617188-Protein Structure, Tertiary,
pubmed-meshheading:21617188-Rats,
pubmed-meshheading:21617188-Receptors, Drug,
pubmed-meshheading:21617188-Xenopus laevis
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pubmed:year |
2011
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pubmed:articleTitle |
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.
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pubmed:affiliation |
Henry Wellcome Centre for Gene Function, Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford, U.K.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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